The University of Queensland

Tissue specific regulation of transcription in endometrium and association with disease

Mortlock, Sally, Kendarsari, Raden I., Fung, Jenny N., Gibson, Greg, Yang, Fei, Restuadi, Restuadi, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Lukowski, Samuel W., Healey, Martin, Qi, Ting, Rogers, Peter A. W., Yang, Jian, McKinnon, Brett and Montgomery, Grant W. (2020). Tissue specific regulation of transcription in endometrium and association with disease. Human Reproduction, 35 (2), 377-393. doi: 10.1093/humrep/dez279

Genotype-free demultiplexing of pooled single-cell RNA-seq

Xu, Jun, Falconer, Caitlin, Nguyen, Quan, Crawford, Joanna, McKinnon, Brett D., Mortlock, Sally, Senabouth, Anne, Andersen, Stacey, Chiu, Han Sheng, Jiang, Longda, Palpant, Nathan J., Yang, Jian, Mueller, Michael D., Hewitt, Alex W., Pébay, Alice, Montgomery, Grant W., Powell, Joseph E. and Coin, Lachlan J. M. (2019). Genotype-free demultiplexing of pooled single-cell RNA-seq. Genome Biology, 20 (1) 290, 290. doi: 10.1186/s13059-019-1852-7

Should genetics now be considered the pre-eminent etiologic factor in endometriosis?

Montgomery, Grant W., Mortlock, Sally and Giudice, Linda C. (2019). Should genetics now be considered the pre-eminent etiologic factor in endometriosis?. Journal of Minimally Invasive Gynecology, 27 (2), 280-286. doi: 10.1016/j.jmig.2019.10.020

Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

Gallagher, C. S., Mäkinen, N., Harris, H. R., Rahmioglu, N., Uimari, O., Cook, J. P., Shigesi, N., Ferreira, T., Velez-Edwards, D. R., Edwards, T. L., Mortlock, S., Ruhioglu, Z., Day, F., Becker, C. M., Karhunen, V., Martikainen, H., Järvelin, M.-R., Cantor, R. M., Ridker, P. M., Terry, K. L., Buring, J. E., Gordon, S. D., Medland, S. E., Montgomery, G. W., Nyholt, D. R., Hinds, D. A., Tung, J. Y., Perry, J. R. B., Lind, P. A. ... Morton, C. C. (2019). Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. Nature Communications, 10 (1) 4857, 4857. doi: 10.1038/s41467-019-12536-4

Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases

Mortlock, Sally, Restuadi, Restuadi, Levien, Rupert, Girling, Jane E., Holdsworth-Carson, Sarah J., Healey, Martin, Zhu, Zhihong, Qi, Ting, Wu, Yang, Lukowski, Samuel W., Rogers, Peter A. W., Yang, Jian, McRae, Allan F., Fung, Jenny N. and Montgomery, Grant W. (2019). Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases. Clinical Epigenetics, 11 (1) 49, 49. doi: 10.1186/s13148-019-0648-7

Molecular support for heterogonesis resulting in sesquizygotic twinning

Gabbett, Michael T., Laporte, Johanna, Sekar, Renuka, Nandini, Adayapalam, McGrath, Pauline, Sapkota, Yadav, Jiang, Peiyong, Zhang, Haiqiang, Burgess, Trent, Montgomery, Grant W., Chiu, Rossa and Fisk, Nicholas M. (2019). Molecular support for heterogonesis resulting in sesquizygotic twinning. New England Journal of Medicine, 380 (9), 842-849. doi: 10.1056/nejmoa1701313

Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2019). Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 10 (1) 299, 299. doi: 10.1038/s41467-018-08078-w

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Lui, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, Arfan M., Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2018). Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 9 (1) 4774, 4774. doi: 10.1038/s41467-018-06649-5

Complex genetics of female fertility

Gajbhiye, Rahul, Fung, Jenny N. and Montgomery, Grant W. (2018). Complex genetics of female fertility. npj Genomic Medicine, 3 (1) 29, 29. doi: 10.1038/s41525-018-0068-1

Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome

Fung, Jenny N., Mortlock, Sally, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Zhu, Zhihong, Lukowski, Samuel W., McKinnon, Brett D., McRae, Allan, Yang, Jian, Healey, Martin, Powell, Joseph E., Rogers, Peter A. W. and Montgomery, Grant W (2018). Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome. Scientific Reports, 8 (1) 11424, 11424. doi: 10.1038/s41598-018-29462-y

Genetics of endometriosis: state of the art on genetic risk factors for endometriosis

Fung, Jenny N. and Montgomery, Grant W. (2018). Genetics of endometriosis: state of the art on genetic risk factors for endometriosis. Best Practice & Research: Clinical Obstetrics & Gynaecology, 50, 61-71. doi: 10.1016/j.bpobgyn.2018.01.012

The genetic regulation of transcription in human endometrial tissue

Fung, Jenny N., Girling, Jane E., Lukowski, Samuel W., Sapkota, Yadav, Wallace, Leanne, Holdsworth-Carson, Sarah J., Henders, Anjali K., Healey, Martin, Rogers, Peter A. W., Powell, Joseph E. and Montgomery, Grant W. (2017). The genetic regulation of transcription in human endometrial tissue. Human Reproduction, 32 (4), 893-904. doi: 10.1093/humrep/dex006

The genetic architecture of gene expression in peripheral blood

Lloyd-Jones, Luke R., Holloway, Alexander, McRae, Allan, Yang, Jian, Small, Kerrin, Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Dermitzakis, Manolis, Gibson, Greg, Spector, Tim, Montgomery, Grant, Esko, Tonu, Visscher, Peter M. and Powell, Joseph E. (2017). The genetic architecture of gene expression in peripheral blood. American Journal of Human Genetics, 100 (2), 228-237. doi: 10.1016/j.ajhg.2016.12.008

Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339

Powell, Joseph E., Fung, Jenny N., Shakhbazov, Konstantin, Sapkota, Yadav, Cloonan, Nicole, Hemani, Gibran, Hillman, Kristine M., Kaufmann, Susanne, Luong, Hien T., Bowdler, Lisa, Painter, Jodie N., Holdsworth-Carson, Sarah J., Visscher, Peter M., Dinger, Marcel E., Healey, Martin, Nyholt, Dale R., French, Juliet D., Edwards, Stacey L., Rogers, Peter A. W. and Montgomery, Grant W. (2016). Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339. Human Molecular Genetics, 25 (22), 5046-5058. doi: 10.1093/hmg/ddw320

Five endometrial cancer risk loci identified through genome-wide association analysis

Cheng, Timothy H. T., Thompson, Deborah J., O'Mara, Tracy A., Painter, Jodie N., Glubb, Dylan M., Flach, Susanne, Lewis, Annabelle, French, Juliet D., Freeman-Mills, Luke, Church, David, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Webb, Penelope M., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W., Nyholt, Dale R., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Dennis, Joe, Fasching, Peter A., Beckmann, Matthias W., Hein, Alexander ... Spurdle, Amanda B. (2016). Five endometrial cancer risk loci identified through genome-wide association analysis. Nature Genetics, 48 (6), 667-674. doi: 10.1038/ng.3562

Identification of common genetic variants influencing spontaneous dizygotic twinning and female fertility

Mbarek, Hamdi, Steinberg, Stacy, Nyholt, Dale R., Gordon, Scott D., Miller, Michael B., McRae, Allan F, Hottenga, Jouke Jan, Day, Felix R., Willemsen, Gonneke, de Geus, Eco J., Davies, Gareth E, Martin, Hilary C, Penninx, Brenda W, Jansen, Rick, McAloney, Kerrie, Vink, Jacqueline M., Kaprio, Jaakko, Plomin, Robert, Spector, Tim D., Magnusson, Patrik K., Reversade, Bruno, Harris, R. Alan, Aagaard, Kjersti, Kristjansson, Ragnar P., Olafsson, Isleifur, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Iacono, William G., Lambalk, Cornelis B ... Boomsman, Dorret I. (2016). Identification of common genetic variants influencing spontaneous dizygotic twinning and female fertility. American Journal of Human Genetics, 98 (5), 898-908. doi: 10.1016/j.ajhg.2016.03.008

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

Zhu, Zhihong, Zhang, Futao, Hu, Han, Bakshi, Andrew, Robinson, Matthew R., Powell, Joseph E., Montgomery,Grant W., Goddard, Michael E., Wray, Naomi R., Visscher, Peter M. and Yang, Jian (2016). Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nature Genetics, 48 (5), 481-487. doi: 10.1038/ng.3538

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Day, Felix R., Ruth, Katherine S., Thompson, Deborah J., Lunetta, Kathryn L., Pervjakova, Natalia, Chasman, Daniel I., Stolk, Lisette, Finucane, Hilary K., Sulem, Patrick, Bulik-Sullivan, Brendan, Esko, Tonu, Johnson, Andrew D., Elks, Cathy E., Franceschini, Nora, He, Chunyan, Altmaier, Elisabeth, Brody, Jennifer A., Franke, Lude L., Huffman, Jennifer E., Keller, Margaux F., McArdle, Patrick F., Nutile, Teresa, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Smith, Jennifer A., Teumer, Alexander, Traglia, Michela ... Murray, Anna (2015). Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nature Genetics, 47 (11), 1294-1305. doi: 10.1038/ng.3412

Functional evaluation of genetic variants associated with endometriosis near GREB1

Fung, Jenny N., Holdsworth-Carson, Sarah J., Sapkota, Yadav, Zhao, Zhen Zhen, Jones, Lincoln, Girling, Jane E., Paiva, Premila, Healey, Martin, Nyholt, Dale R., Rogers, Peter A. W. and Montgomery, Grant W. (2015). Functional evaluation of genetic variants associated with endometriosis near GREB1. Human Reproduction, 30 (5), 1263-1275. doi: 10.1093/humrep/dev051

Identifying the biological basis of GWAS hits for endometriosis

Fung, Jenny N., Rogers, Peter A. W. and Montgomery, Grant W. (2015). Identifying the biological basis of GWAS hits for endometriosis. Biology of Reproduction, 92 (4) 87. doi: 10.1095/biolreprod.114.126458

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

Painter J.N., O'Mara T.A., Batra J., Cheng T., Lose F.A., Dennis J., Michailidou K., Tyrer J.P., Ahmed S., Ferguson K., Healey C.S., Kaufmann S., Hillman K.M., Walpole C., Moya L., Pollock P., Jones A., Howarth K., Martin L., Gorman M., Hodgson S., De Polanco M.M.E., Sans M., Carracedo A., Castellvi-Bel S., Rojas-Martinez A., Santos E., Teixeira M.R., Carvajal-Carmona L. ... Spurdle A.B. (2015). Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. Human Molecular Genetics, 24 (5), 1478-1492. doi: 10.1093/hmg/ddu552

Genetic and environmental exposures constrain epigenetic drift over the human life course

Shah, Sonia, McRae, Allan F., Marioni, Riccardo E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Redmond, Paul, Cox, Simon R., Pattie, Alison, Corley, Janie, Murphy, Lee, Martin, Nicholas G., Montgomery, Grant W., Starr, John M., Wray, Naomi R., Deary, Ian J. and Visscher, Peter M. (2014). Genetic and environmental exposures constrain epigenetic drift over the human life course. Genome Research, 24 (11), 1725-1733. doi: 10.1101/gr.176933.114

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Perry, John R. B., Day, Felix, Elks, Cathy E., Sulem, Patrick, Thompson, Deborah J., Ferreira, Teresa, He, Chunyan, Chasman, Daniel I., Esko, Toenu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q., Corre, Tanguy, Cousminer, Diana L., Feenstra, Bjarke, Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D., Kjellqvist, Sanela, Lunetta, Kathryn L., McMahon, George, Nolte, Ilja M., Paternoster, Lavinia, Porcu, Eleonora, Smith, Albert V., Stolk, Lisette, Teumer, Alexander, Tsernikova, Natalia, Tikkanen, Emmi ... Middeldorp, Christel (2014). Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature, 514 (7520), 92-97. doi: 10.1038/nature13545

Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets

Rahmioglu, Nilufer, Nyholt, Dale R., Morris, Andrew P., Missmer, Stacey A., Montgomery, Grant W. and Zondervan, Krina T. (2014). Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets. Human Reproduction Update, 20 (5) dmu015, 702-716. doi: 10.1093/humupd/dmu015

Contribution of genetic variation to transgenerational inheritance of DNA methylation

McRae, Allan F., Powell, Joseph E., Henders, Anjali K., Bowdler, Lisa, Hemani, Gibran, Shah, Sonia, Painter, Jodie N., Martin, Nicholas G., Visscher, Peter M. and Montgomery, Grant W. (2014). Contribution of genetic variation to transgenerational inheritance of DNA methylation. Genome Biology, 15 (5), 1-10. doi: 10.1186/gb-2014-15-5-r73

Systematic identification of trans eQTLs as putative drivers of known disease associations

Westra, Harm-Jan, Peters, Marjolein J., Esko, Tonu, Yaghootkar, Hanieh, Schurmann, Claudia, Kettunen, Johannes, Christiansen, Mark W., Fairfax, Benjamin P., Schramm, Katharina, Powell, Joseph E., Zhernakova, Alexandra, Zhernakova, Daria V., Veldink, Jan H., Van den Berg, Leonard H., Karjalainen, Juha, Withoff, Sebo, Uitterlinden, Andre G., Hofman, Albert, Rivadeneira, Fernando, Hoen, Peter A. C't, Reinmaa, Eva, Fischer, Krista, Nelis, Mari, Milani, Lili, Melzer, David, Ferrucci, Luigi, Singleton, Andrew B., Hernandez, Dena G., Nalls, Michael A. ... Franke, Lude (2013). Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genetics, 45 (10), 1238-U195. doi: 10.1038/ng.2756

Genome-wide association meta-analysis identifies new endometriosis risk loci

Nyholt, Dale R., Low, Siew-Kee, Anderson, Carl A., Painter, Jodie N., Uno, Satoko, Morris, Andrew P., MacGregor, Stuart, Gordon, Scott D., Henders, Anjali K., Martin, Nicholas G., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Kennedy, Stephen H., Treloar, Susan A., Missmer, Stacey A., Adachi, Sosuke, Tanaka, Kenichi, Nakamura, Yusuke, Zondervan, Krina T., Zembutsu, Hitoshi and Montgomery, Grant W. (2012). Genome-wide association meta-analysis identifies new endometriosis risk loci. Nature Genetics, 44 (12), 1355-1359. doi: 10.1038/ng.2445

Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent

Powell, Joseph E., Henders, Anjali K., McRae, Allan F., Wright, Margaret J., Martin, Nicholas G., Dermitzakis, Emmanouil T., Montgomery, Grant W. and Visscher, Peter M. (2012). Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. Genome Research, 22 (3), 456-466. doi: 10.1101/gr.126540.111

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Stolk L., Perry J.R.B., Chasman D.I., He C., Mangino M., Sulem P., Barbalic M., Broer L., Byrne E.M., Ernst F., Esko T., Franceschini N., Gudbjartsson D.F., Hottenga J.-J., Kraft P., McArdle P.F., Porcu E., Shin S.-Y., Smith A.V., Van Wingerden S., Zhai G., Zhuang W.V., Albrecht E., Alizadeh B.Z., Aspelund T., Bandinelli S., Lauc L.B., Beckmann J.S., Boban M. ... Lunetta K.L. (2012). Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nature Genetics, 44 (3), 260-268. doi: 10.1038/ng.1051

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis

Painter, JN, Anderson, CA, Nyholt, DR, Macgregor, S, Lin, JH, Lee, SH, Lambert, A, Zhao, ZZ, Roseman, F, Guo, Q, Gordon, SD, Wallace, L, Henders, AK, Visscher, PM, Kraft, P, Martin, NG, Morris, AP, Treloar, SA, Kennedy, SH, Missmer, SA, Montgomery, GW and Zondervan, KT (2011). Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nature Genetics, 43 (1), 51-54. doi: 10.1038/ng.731

A life course approach to endometriosis

Mishra, Gita D., Rowlands, Ingrid J., Chan, Hsiu-Wen and Montgomery, Grant W. (2023). A life course approach to endometriosis. A life course approach to women's health. (pp. 33-C3P147) Oxford, United Kingdom: Oxford University Press. doi: 10.1093/oso/9780192864642.003.0003

Genetics and genomics of endometriosis

Giudice, Linda C., Burney, Richard O., Becker, Christian M., Missmer, Stacey A., Montgomery, Grant, Rahmioglu, Nilufer, Rogers, Peter A.W. and Zondervan, Krina (2023). Genetics and genomics of endometriosis. Human reproductive and prenatal genetics. (pp. 599-631) edited by Peter C. K. Leung and Jie Qiao. London, United Kingdom: Academic Press. doi: 10.1016/B978-0-323-91380-5.00018-6

Genetics and genomics of endometriosis

Giudice, Linda C., Burney, Richard O., Becker, Christian, Missmer, Stacey, Montgomery, Grant, Rahmioglu, Nilufer, Rogers, Peter A. W. and Zondervan, Krina (2019). Genetics and genomics of endometriosis. Human reproductive and prenatal genetics. (pp. 399-426) edited by Peter C. K. Leung and Jie Qiao. London, United Kingdom: Academic Press/Elsevier. doi: 10.1016/B978-0-12-813570-9.00018-8

Genetic biomarkers for endometriosis

Lee, Sang Hong, Sapkota, Yadav, Fung, Jenny and Montgomery, Grant W. (2017). Genetic biomarkers for endometriosis. Biomarkers for Endometriosis: State of the Art. (pp. 83-93) edited by Thomas D'Hooghe. Cham, Switzerland: Springer International Publishing. doi: 10.1007/978-3-319-59856-7_5

Twins and twinning

Painter, Jodie N., Medland, Sarah J., Montgomery, Grant W. and Hall, Judith G. (2013). Twins and twinning. Emery and Rimoin's principles and practice of medical genetics. (pp. 1-20) London, United Kingdom: Elsevier. doi: 10.1016/B978-0-12-383834-6.00020-3

Understanding the pathogenesis of endometriosis: gene mapping studies

Painter, Jodie N., Zondervan, Krina T. and Montgomery, Grant W. (2012). Understanding the pathogenesis of endometriosis: gene mapping studies. Endometriosis: science and practice. (pp. 54-64) edited by Linda C. Giudice, Johannes L. H. Evers and David L. Healy. Chichester, West Sussex, United Kingdom: Blackwell Publishing. doi: 10.1002/9781444398519.ch6

Use of Monozygotic Twins to Investigate the Relationship between 5HTTLPR Genotype, Depression and Stressful Life Events: An Application of Item Response Theory

Wray, Naomi R., Coventry, William L., James, Michael R., Montgomery, Grant W., Eaves, Lindon J. and Martin, Nicholas G. (2008). Use of Monozygotic Twins to Investigate the Relationship between 5HTTLPR Genotype, Depression and Stressful Life Events: An Application of Item Response Theory. Genetic Effects on Environmental Vulnerability to Disease. (pp. 48-59) wiley. doi: 10.1002/9780470696781.ch4

Use of monozygotic twins to investigate the relationship between 5HTTLPR genotype, depression and stressful life events: an application of item response theory

Wray, Naomi R., Coventry, William L., James, Michael R., Montgomery, Grant W., Eaves, Lindon J. and Martin, Nicholas G. (2008). Use of monozygotic twins to investigate the relationship between 5HTTLPR genotype, depression and stressful life events: an application of item response theory. Genetic effects on environmental vulnerability to disease. (pp. 48-67) Chichester, United Kingdom: John Wiley & Sons. doi: 10.1002/9780470696781.ch4

Genetic control of DNA methylation is largely shared across European and East Asian populations

Hatton, Alesha A., Cheng, Fei-Fei, Lin, Tian, Shen, Ren-Juan, Chen, Jie, Zheng, Zhili, Qu, Jia, Lyu, Fan, Harris, Sarah E., Cox, Simon R., Jin, Zi-Bing, Martin, Nicholas G., Fan, Dongsheng, Montgomery, Grant W., Yang, Jian, Wray, Naomi R., Marioni, Riccardo E., Visscher, Peter M. and McRae, Allan F. (2024). Genetic control of DNA methylation is largely shared across European and East Asian populations. Nature Communications, 15 (1) 2713, 2713. doi: 10.1038/s41467-024-47005-0

X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements

Scholz, Markus, Horn, Katrin, Pott, Janne, Wuttke, Matthias, Kühnapfel, Andreas, Nasr, M. Kamal, Kirsten, Holger, Li, Yong, Hoppmann, Anselm, Gorski, Mathias, Ghasemi, Sahar, Li, Man, Tin, Adrienne, Chai, Jin-Fang, Cocca, Massimiliano, Wang, Judy, Nutile, Teresa, Akiyama, Masato, Åsvold, Bjørn Olav, Bansal, Nisha, Biggs, Mary L., Boutin, Thibaud, Brenner, Hermann, Brumpton, Ben, Burkhardt, Ralph, Cai, Jianwen, Campbell, Archie, Campbell, Harry, Chalmers, John ... Pattaro, Cristian (2024). X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements. Nature Communications, 15 (1) 586, 586. doi: 10.1038/s41467-024-44709-1

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

Mbarek, Hamdi, Gordon, Scott D, Duffy, David L, Hubers, Nikki, Mortlock, Sally, Beck, Jeffrey J, Hottenga, Jouke-Jan, Pool, René, Dolan, Conor V, Actkins, Ky’Era V, Gerring, Zachary F, Van Dongen, Jenny, Ehli, Erik A, Iacono, William G, Mcgue, Matt, Chasman, Daniel I, Gallagher, C Scott, Schilit, Samantha L P, Morton, Cynthia C, Paré, Guillaume, Willemsen, Gonneke, Whiteman, David C, Olsen, Catherine M, Derom, Catherine, Vlietinck, Robert, Gudbjartsson, Daniel, Cannon-Albright, Lisa, Krapohl, Eva, Plomin, Robert ... Martin, Nicholas G (2023). Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity. Human Reproduction, 39 (1), 240-257. doi: 10.1093/humrep/dead247

Polygenic risk score phenome-wide association study reveals an association between endometriosis and testosterone

McGrath, Isabelle M., Montgomery, Grant W., Mortlock, Sally and International Endometriosis Genetics Consortium (2023). Polygenic risk score phenome-wide association study reveals an association between endometriosis and testosterone. BMC Medicine, 21 (1) 482, 482. doi: 10.1186/s12916-023-03184-z

Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression

Marla, Sushma, Mortlock, Sally, Heinosalo, Taija, Poutanen, Matti, Montgomery, Grant W. and McKinnon, Brett David (2023). Gene expression profiles separate endometriosis lesion subtypes and indicate a sensitivity of endometrioma to estrogen suppressive treatments through elevated ESR2 expression. BMC Medicine, 21 (1) 460, 460. doi: 10.1186/s12916-023-03166-1

GWAS of Dizygotic Twinning in an Enlarged Australian Sample of Mothers of DZ Twins

Gordon, Scott D., Duffy, David L., Whiteman, David C., Olsen, Catherine M., McAloney, Kerrie, Adsett, Jessica M., Garden, Natalie A., Cross, Simone M., List-Armitage, Susan E., Brown, Joy, Beck, Jeffrey J., Mbarek, Hamdi, Medland, Sarah E., Montgomery, Grant W. and Martin, Nicholas G. (2023). GWAS of Dizygotic Twinning in an Enlarged Australian Sample of Mothers of DZ Twins. Twin Research and Human Genetics, 26 (6), 1-12. doi: 10.1017/thg.2023.45

Associations between endometriosis and common symptoms: findings from the Australian Longitudinal Study on Women’s Health

Gete, Dereje G., Doust, Jenny, Mortlock, Sally, Montgomery, Grant and Mishra, Gita D. (2023). Associations between endometriosis and common symptoms: findings from the Australian Longitudinal Study on Women’s Health. American Journal of Obstetrics and Gynecology, 229 (5), 536.e1-536.e20. doi: 10.1016/j.ajog.2023.07.033

A molecular staging model for accurately dating the endometrial biopsy

Teh, W. T., Chung, J., Holdsworth-Carson, S. J., Donoghue, J. F., Healey, M., Rees, H. C., Bittinger, S., Obers, V., Sloggett, C., Kendarsari, R., Fung, J. N., Mortlock, S., Montgomery, G. W., Girling, J. E. and Rogers, P. A. W. (2023). A molecular staging model for accurately dating the endometrial biopsy. Nature Communications, 14 (1) 6222, 6222. doi: 10.1038/s41467-023-41979-z

Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management

Yang, Fei, Wu, Yeda, Hockey, Richard, International Endometriosis Genetics Consortium, Doust, Jenny, Mishra, Gita D., Montgomery, Grant W. and Mortlock, Sally (2023). Evidence of shared genetic factors in the etiology of gastrointestinal disorders and endometriosis and clinical implications for disease management. Cell Reports Medicine, 4 (11) 101250, 1-20. doi: 10.1016/j.xcrm.2023.101250

GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification

Lagou, Vasiliki, Jiang, Longda, Ulrich, Anna, Zudina, Liudmila, González, Karla Sofia Gutiérrez, Balkhiyarova, Zhanna, Faggian, Alessia, Maina, Jared G., Chen, Shiqian, Todorov, Petar V., Sharapov, Sodbo, David, Alessia, Marullo, Letizia, Mägi, Reedik, Rujan, Roxana-Maria, Ahlqvist, Emma, Thorleifsson, Gudmar, Gao, Ηe, Εvangelou, Εvangelos, Benyamin, Beben, Scott, Robert A., Isaacs, Aaron, Zhao, Jing Hua, Willems, Sara M., Johnson, Toby, Gieger, Christian, Grallert, Harald, Meisinger, Christa, Müller-Nurasyid, Martina ... Meta-Analysis of Glucose and Insulin-Related Traits Consortium (MAGIC) (2023). GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification. Nature Genetics, 55 (9), 1448-1461. doi: 10.1038/s41588-023-01462-3

Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities

McGrath, Isabelle M, Montgomery, Grant W and Mortlock, Sally (2023). Insights from Mendelian randomization and genetic correlation analyses into the relationship between endometriosis and its comorbidities. Human Reproduction Update, 29 (5), 655-674. doi: 10.1093/humupd/dmad009

Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function

Mortlock, Sally, Houshdaran, Sahar, Kosti, Idit, Rahmioglu, Nilufer, Nezhat, Camran, Vitonis, Allison F., Andrews, Shan V., Grosjean, Parker, Paranjpe, Manish, Horne, Andrew W., Jacoby, Alison, Lager, Jeannette, Opoku-Anane, Jessica, Vo, Kim Chi, Manvelyan, Evelina, Sen, Sushmita, Ghukasyan, Zhanna, Collins, Frances, Santamaria, Xavier, Saunders, Philippa, Kober, Kord, McRae, Allan F., Terry, Kathryn L., Vallvé-Juanico, Júlia, Becker, Christian, Rogers, Peter A. W., Irwin, Juan C., Zondervan, Krina, Montgomery, Grant W. ... Giudice, Linda (2023). Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function. Communications Biology, 6 (1) 780, 1-17. doi: 10.1038/s42003-023-05070-z

Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk

McGrath, Isabelle M., Montgomery, Grant W., Mortlock, Sally and International Endometriosis Genetics Consortium (2023). Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk. Human Genetics, 142 (9), 1345-1360. doi: 10.1007/s00439-023-02582-w

Global analysis of transcription start sites and enhancers in endometrial stromal cells and differences associated with endometriosis

Marla, Sushma, Mortlock, Sally, Yoon, Sohye, Crawford, Joanna, Andersen, Stacey, Mueller, Michael D., McKinnon, Brett, Nguyen, Quan and Montgomery, Grant W. (2023). Global analysis of transcription start sites and enhancers in endometrial stromal cells and differences associated with endometriosis. Cells, 12 (13) 1736, 1-22. doi: 10.3390/cells12131736

Establishing the Australian National Endometriosis Clinical and Scientific Trials (NECST) Registry: a protocol paper

Ng, Cecilia H.M., Michelmore, Andrew G., Mishra, Gita D., Montgomery, Grant W., Rogers, Peter A. and Abbott, Jason A. (2023). Establishing the Australian National Endometriosis Clinical and Scientific Trials (NECST) Registry: a protocol paper. Reproduction and Fertility, 4 (2) e230014, 1-13. doi: 10.1530/RAF-23-0014

Rare genetic variants underlie outlying levels of DNA methylation and gene-expression

Chundru, V. Kartik, Marioni, Riccardo E., Pendergast, James G. D., Lin, Tian, Beveridge, Allan J., Martin, Nicholas G, Montgomery, Grant W., Hume, David A., Deary, Ian J., Visscher, Peter M., Wray, Naomi R. and McRae, Allan F. (2023). Rare genetic variants underlie outlying levels of DNA methylation and gene-expression. Human Molecular Genetics, 32 (11), 1912-1921. doi: 10.1093/hmg/ddad028

Impact of endometriosis on women's health-related quality of life: A national prospective cohort study

Gete, Dereje G., Doust, Jenny, Mortlock, Sally, Montgomery, Grant and Mishra, Gita D. (2023). Impact of endometriosis on women's health-related quality of life: A national prospective cohort study. Maturitas, 174, 1-7. doi: 10.1016/j.maturitas.2023.04.272

New concepts on the etiology of endometriosis

Cousins, Fiona L., McKinnon, Brett D., Mortlock, Sally, Fitzgerald, Harriet C., Zhang, Chenyu, Montgomery, Grant W. and Gargett, Caroline E. (2023). New concepts on the etiology of endometriosis. Journal of Obstetrics and Gynaecology Research, 49 (4), 1090-1105. doi: 10.1111/jog.15549

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Møller, Peter L., Stefansdottir, Lilja, Galarneau, Geneviève, Turman, Constance, Danning, Rebecca, Law, Matthew H., Sapkota, Yadav, Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Błażej, Nõukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F., Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S., Campbell, Archie, Cheuk, Cecilia S. K. ... The 23andMe Research Team (2023). The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions. Nature Genetics, 55 (3), 423-436. doi: 10.1038/s41588-023-01323-z

An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis

Mortlock, Sally, Lord, Anton, Montgomery, Grant, Zakrzewski, Martha, Simms, Lisa A, Krishnaprasad, Krupa, Hanigan, Katherine, Doecke, James D, Walsh, Alissa, Lawrance, Ian C, Bampton, Peter A, Andrews, Jane M, Mahy, Gillian, Connor, Susan J, Sparrow, Miles P, Bell, Sally, Florin, Timothy H., Begun, Jakob, Gearry, Richard B and Radford-Smith, Graham L. (2023). An extremes of phenotype approach confirms significant genetic heterogeneity in patients with ulcerative colitis. Journal of Crohn's and Colitis, 17 (2), 277-288. doi: 10.1093/ecco-jcc/jjac121

Smoking remains associated with education after controlling for social background and genetic factors in a study of 18 twin cohorts

Silventoinen, Karri, Piirtola, Maarit, Jelenkovic, Aline, Sund, Reijo, Tarnoki, Adam D., Tarnoki, David L., Medda, Emanuela, Nisticò, Lorenza, Toccaceli, Virgilia, Honda, Chika, Inui, Fujio, Tomizawa, Rie, Watanabe, Mikio, Sakai, Norio, Gatz, Margaret, Butler, David A., Lee, Jooyeon, Lee, Soo Ji, Sung, Joohon, Franz, Carol E., Kremen, William S., Lyons, Michael J., Derom, Catherine A., Vlietinck, Robert F., Loos, Ruth J. F., Tynelius, Per, Rasmussen, Finn, Martin, Nicholas G., Medland, Sarah E. ... Kaprio, Jaakko (2022). Smoking remains associated with education after controlling for social background and genetic factors in a study of 18 twin cohorts. Scientific Reports, 12 (1) 13148, 1-9. doi: 10.1038/s41598-022-17536-x

Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond

Gaddis, Nathan, Mathur, Ravi, Marks, Jesse, Zhou, Linran, Quach, Bryan, Waldrop, Alex, Levran, Orna, Agrawal, Arpana, Randesi, Matthew, Adelson, Miriam, Jeffries, Paul W., Martin, Nicholas G., Degenhardt, Louisa, Montgomery, Grant W., Wetherill, Leah, Lai, Dongbing, Bucholz, Kathleen, Foroud, Tatiana, Porjesz, Bernice, Runarsdottir, Valgerdur, Tyrfingsson, Thorarinn, Einarsson, Gudmundur, Gudbjartsson, Daniel F., Webb, Bradley Todd, Crist, Richard C., Kranzler, Henry R., Sherva, Richard, Zhou, Hang, Hulse, Gary ... Johnson, Eric Otto (2022). Multi-trait genome-wide association study of opioid addiction: OPRM1 and beyond. Scientific Reports, 12 (1) 16873, 1-16. doi: 10.1038/s41598-022-21003-y

Clinical characteristics and surgical management of endometriosis‐associated infertility: A multicenter prospective cohort study

Bhurke, Aishwarya V., DasMahapatra, Pramathes, Balakrishnan, Sheila, Khan, Shagufta A., Mortlock, Sally, Das, Vinita, Chellamma, Nirmala, Cheruvara Vadakkathil, Sowmini, Srivastava, Aarti, Majumdar, Amiya, Pasi, Achhelal, Sachdeva, Geetanjali, Montgomery, Grant W. and Gajbhiye, Rahul K. (2022). Clinical characteristics and surgical management of endometriosis‐associated infertility: A multicenter prospective cohort study. International Journal of Gynecology & Obstetrics, 159 (1), 86-96. doi: 10.1002/ijgo.14115

Cohort profile: a prospective Australian cohort study of women’s reproductive characteristics and risk of chronic disease from menarche to premenopause (M-PreM)

Chan, Hsiu-Wen, Dharmage, Shyamali, Dobson, Annette, Chung, Hsin-Fang, Loxton, Deborah, Doust, Jenny, Montgomery, Grant, Stamatakis, Emmanuel, Huxley, Rachel R., Hamer, Mark, Abbott, Jason, Yeap, Bu Beng, Visser, Jenny A., McIntyre, Harold, Mielke, Gregore Iven and Mishra, Gita D. (2022). Cohort profile: a prospective Australian cohort study of women’s reproductive characteristics and risk of chronic disease from menarche to premenopause (M-PreM). BMJ Open, 12 (10) e064333, 1-12. doi: 10.1136/bmjopen-2022-064333

Protocol for the Endometriosis Research Queensland Study (ERQS): an integrated cohort study approach to improve diagnosis and stratify treatment

Tanaka, Keisuke, Gilroy, Deborah, Subramaniam, Sugarniya, Lakshmi, Preethi, Bhadravathi Lokeshappa, Madhura, Wallace, Leanne M., Atluri, Sharat, Schmidt, Bart, Ganter, Peter, Baartz, David, Smith, Matthew, Mortlock, Sally, Henders, Anjali, Khalil, Akram, Montgomery, Grant, McKinnon, Brett and Amoako, Akwasi (2022). Protocol for the Endometriosis Research Queensland Study (ERQS): an integrated cohort study approach to improve diagnosis and stratify treatment. BMJ Open, 12 (10) e064073, 1-10. doi: 10.1136/bmjopen-2022-064073

Author correction: Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

Gallagher, C. S., Mäkinen, N., Harris, H. R., Rahmioglu, N., Uimari, O., Cook, J. P., Shigesi, N., Ferreira, T., Velez-Edwards, D. R., Edwards, T. L., Mortlock, S., Ruhioglu, Z., Day, F., Becker, C. M., Karhunen, V., Martikainen, H., Järvelin, M.-R., Cantor, R. M., Ridker, P. M., Terry, K. L., Buring, J. E., Gordon, S. D., Medland, S. E., Montgomery, G. W., Nyholt, D. R., Hinds, D. A., Tung, J. Y., Agee, Michelle, Alipanahi, Babak ... the 23andMe Research Team (2022). Author correction: Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. Nature Communications, 13 (1) 5543, 5543. doi: 10.1038/s41467-022-33222-y

Changing genetic architecture of body mass index from infancy to early adulthood: an individual based pooled analysis of 25 twin cohorts

Silventoinen, Karri, Li, Weilong, Jelenkovic, Aline, Sund, Reijo, Yokoyama, Yoshie, Aaltonen, Sari, Piirtola, Maarit, Sugawara, Masumi, Tanaka, Mami, Matsumoto, Satoko, Baker, Laura A., Tuvblad, Catherine, Tynelius, Per, Rasmussen, Finn, Craig, Jeffrey M., Saffery, Richard, Willemsen, Gonneke, Bartels, Meike, van Beijsterveldt, Catharina E. M., Martin, Nicholas G., Medland, Sarah E., Montgomery, Grant W., Lichtenstein, Paul, Krueger, Robert F., McGue, Matt, Pahlen, Shandell, Christensen, Kaare, Skytthe, Axel, Kyvik, Kirsten O. ... Kaprio, Jaakko (2022). Changing genetic architecture of body mass index from infancy to early adulthood: an individual based pooled analysis of 25 twin cohorts. International Journal of Obesity, 46 (10), 1901-1909. doi: 10.1038/s41366-022-01202-3

Co-inheritance of variation in all-cause mortality and biochemical risk factors

Whitfield, John B., Colodro-Conde, Lucía, Zhu, Gu, Timmers, Paul R. H. J., Joshi, Peter K., Montgomery, Grant W. and Martin, Nicholas G (2022). Co-inheritance of variation in all-cause mortality and biochemical risk factors. Twin Research and Human Genetics, 25 (3), 1-8. doi: 10.1017/thg.2022.25

Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility

McKinnon, Brett D., Lukowski, Samuel W., Mortlock, Sally, Crawford, Joanna, Atluri, Sharat, Subramaniam, Sugarniya, Johnston, Rebecca L., Nirgianakis, Konstantinos, Tanaka, Keisuke, Amoako, Akwasi, Mueller, Michael D. and Montgomery, Grant W. (2022). Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility. Communications Biology, 5 (1) 600, 600. doi: 10.1038/s42003-022-03541-3

Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals

Winkler, Thomas W., Rasheed, Humaira, Teumer, Alexander, Gorski, Mathias, Rowan, Bryce X., Stanzick, Kira J., Thomas, Laurent F., Tin, Adrienne, Hoppmann, Anselm, Chu, Audrey Y., Tayo, Bamidele, Thio, Chris H. L., Cusi, Daniele, Chai, Jin-Fang, Sieber, Karsten B., Horn, Katrin, Li, Man, Scholz, Markus, Cocca, Massimiliano, Wuttke, Matthias, van der Most, Peter J., Yang, Qiong, Ghasemi, Sahar, Nutile, Teresa, Li, Yong, Pontali, Giulia, Günther, Felix, Dehghan, Abbas, Correa, Adolfo ... VA Million Veteran Program (2022). Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals. Communications Biology, 5 (1) 580, 1-20. doi: 10.1038/s42003-022-03448-z

Gene expression of the endocannabinoid system in endometrium through menstrual cycle

Tanaka, Keisuke, Amoako, Akwasi A., Mortlock, Sally, Rogers, Peter A. W., Holdsworth-Carson, Sarah J., Donoghue, Jacqueline F., Teh, Wan Tinn, Montgomery, Grant W. and McKinnon, Brett (2022). Gene expression of the endocannabinoid system in endometrium through menstrual cycle. Scientific Reports, 12 (1) 9400, 9400. doi: 10.1038/s41598-022-13488-4

Longitudinal changes in employment following a diagnosis of endometriosis: findings from an Australian cohort study

Rowlands, Ingrid, Hockey, Richard, Abbott, Jason, Montgomery, Grant and Mishra, Gita (2022). Longitudinal changes in employment following a diagnosis of endometriosis: findings from an Australian cohort study. Annals of Epidemiology, 69, 1-8. doi: 10.1016/j.annepidem.2021.10.005

A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes

Mortlock, Sally, Corona, Rosario I., Kho, Pik Fang, Pharoah, Paul, Seo, Ji-Heui, Freedman, Matthew L., Gayther, Simon A., Siedhoff, Matthew T., Rogers, Peter A.W., Leuchter, Ronald, Walsh, Christine S., Cass, Ilana, Karlan, Beth Y., Rimel, B.J., Montgomery, Grant W., Lawrenson, Kate and Kar, Siddhartha P. (2022). A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes. Cell Reports Medicine, 3 (3) 100542, 100542. doi: 10.1016/j.xcrm.2022.100542

Body mass index and the diagnosis of endometriosis: findings from a national data linkage cohort study

Rowlands, Ingrid J., Hockey, Richard, Abbott, Jason A., Montgomery, Grant W. and Mishra, Gita D. (2022). Body mass index and the diagnosis of endometriosis: findings from a national data linkage cohort study. Obesity Research and Clinical Practice, 16 (3), 235-241. doi: 10.1016/j.orcp.2022.04.002

Comparison of organoids from menstrual fluid and hormone-treated endometrium: novel tools for gynecological research

Filby, Caitlin E., Wyatt, Katherine A., Mortlock, Sally, Cousins, Fiona L., McKinnon, Brett, Tyson, Kate E., Montgomery, Grant W. and Gargett, Caroline E. (2021). Comparison of organoids from menstrual fluid and hormone-treated endometrium: novel tools for gynecological research. Journal of Personalized Medicine, 11 (12) 1314. doi: 10.3390/jpm11121314

Educational attainment of same-sex and opposite-sex dizygotic twins: an individual-level pooled study of 19 twin cohorts

Silventoinen, Karri, Bogl, Leonie H., Jelenkovic, Aline, Vuoksimaa, Eero, Latvala, Antti, Li, Weilong, Tan, Qihua, Zhang, Dongfeng, Pang, Zengchang, Ordoñana, Juan R., Sánchez-Romera, Juan F., Colodro-Conde, Lucia, Willemsen, Gonneke, Bartels, Meike, van Beijsterveldt, Catharina E.M., Rebato, Esther, Corley, Robin P., Huibregtse, Brooke M., Hopper, John L., Tyler, Jessica, Duncan, Glen E., Buchwald, Dedra, Silberg, Judy L., Maes, Hermine H., Kandler, Christian, Cozen, Wendy, Hwang, Amie E., Mack, Thomas M., Nelson, Tracy L. ... Kaprio, Jaakko (2021). Educational attainment of same-sex and opposite-sex dizygotic twins: an individual-level pooled study of 19 twin cohorts. Hormones and Behavior, 136 105054, 1-6. doi: 10.1016/j.yhbeh.2021.105054

Identical twins carry a persistent epigenetic signature of early genome programming

van Dongen, Jenny, Gordon, Scott D., McRae, Allan F., Odintsova, Veronika V., Mbarek, Hamdi, Breeze, Charles E., Sugden, Karen, Lundgren, Sara, Castillo-Fernandez, Juan E., Hannon, Eilis, Moffitt, Terrie E., Hagenbeek, Fiona A., van Beijsterveldt, Catharina E. M., Jan Hottenga, Jouke, Tsai, Pei-Chien, van Dongen, Jenny, Hottenga, Jouke-Jan, McRae, Allan F., Sugden, Karen, Castillo-Fernandez, Juan E., Hannon, Eilis, Moffitt, Terrie E., Hottenga, Jouke-Jan, de Geus, Eco J. C., Spector, Timothy D., Min, Josine L., Hemani, Gibran, Ehli, Erik A., Paul, Franziska ... Genetics of DNA Methylation Consortium (2021). Identical twins carry a persistent epigenetic signature of early genome programming. Nature Communications, 12 (1) 5618, 5618. doi: 10.1038/s41467-021-25583-7

Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality

Adewuyi, Emmanuel O., Mehta, Divya, Sapkota, Yadav, Auta, Asa, Yoshihara, Kosuke, Nyegaard, Mette, Griffiths, Lyn R., Montgomery, Grant W., Chasman, Daniel I. and Nyholt, Dale R. (2021). Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality. Human Genetics, 140 (3), 529-552. doi: 10.1007/s00439-020-02223-6

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Võsa, Urmo, Claringbould, Annique, Westra, Harm-Jan, Bonder, Marc Jan, Deelen, Patrick, Zeng, Biao, Kirsten, Holger, Saha, Ashis, Kreuzhuber, Roman, Yazar, Seyhan, Brugge, Harm, Oelen, Roy, de Vries, Dylan H., van der Wijst, Monique G. P., Kasela, Silva, Pervjakova, Natalia, Alves, Isabel, Favé, Marie-Julie, Agbessi, Mawussé, Christiansen, Mark W., Jansen, Rick, Seppälä, Ilkka, Tong, Lin, Teumer, Alexander, Schramm, Katharina, Hemani, Gibran, Verlouw, Joost, Yaghootkar, Hanieh, Sönmez Flitman, Reyhan ... i2QTL Consortium (2021). Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. Nature Genetics, 53 (9), 1300-1310. doi: 10.1038/s41588-021-00913-z

Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus

Kho, Pik Fang, Mortlock, Sally, Endometrial Cancer Association Consortium , International Endometriosis Genetics Consortium, Rogers, Peter A. W., Nyholt, Dale R., Montgomery, Grant W., Spurdle, Amanda B., Glubb, Dylan M. and O'Mara, Tracy A. (2021). Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus. Human Genetics, 140 (9), 1353-1365. doi: 10.1007/s00439-021-02312-0

Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation

Min, Josine L., Hemani, Gibran, Hannon, Eilis, Dekkers, Koen F., Castillo-Fernandez, Juan, Luijk, René, Carnero-Montoro, Elena, Lawson, Daniel J., Burrows, Kimberley, Suderman, Matthew, Bretherick, Andrew D., Richardson, Tom G., Klughammer, Johanna, Iotchkova, Valentina, Sharp, Gemma, Al Khleifat, Ahmad, Shatunov, Aleksey, Iacoangeli, Alfredo, McArdle, Wendy L., Ho, Karen M., Kumar, Ashish, Söderhäll, Cilla, Soriano-Tárraga, Carolina, Giralt-Steinhauer, Eva, Kazmi, Nabila, Mason, Dan, McRae, Allan F., Corcoran, David L., Sugden, Karen ... BIOS Consortium (2021). Genomic and phenotypic insights from an atlas of genetic effects on DNA methylation. Nature Genetics, 53 (9), 1311-1321. doi: 10.1038/s41588-021-00923-x

Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis

Tapmeier, Thomas T., Rahmioglu, Nilufer, Lin, Jianghai, De Leo, Bianca, Obendorf, Maik, Raveendran, Muthuswamy, Fischer, Oliver M., Bafligil, Cemsel, Guo, Manman, Harris, Ronald Alan, Hess-Stumpp, Holger, Laux-Biehlmann, Alexis, Lowy, Ernesto, Lunter, Gerton, Malzahn, Jessica, Martin, Nicholas G., Martinez, Fernando O., Manek, Sanjiv, Mesch, Stefanie, Montgomery, Grant W., Morris, Andrew P., Nagel, Jens, Simmons, Heather A., Brocklebank, Denise, Shang, Catherine, Treloar, Susan, Wells, Graham, Becker, Christian M., Oppermann, Udo ... Zondervan, Krina T. (2021). Neuropeptide S receptor 1 is a nonhormonal treatment target in endometriosis. Science Translational Medicine, 13 (608) eabd6469, 1-12. doi: 10.1126/scitranslmed.abd6469

Phantom epistasis between unlinked loci

Hemani, Gibran, Powell, Joseph E., Wang, Huanwei, Shakhbazov, Konstantin, Westra, Harm-Jan, Esko, Tonu, Henders, Anjali K., McRae, Allan F., Martin, Nicholas G., Metspalu, Andres, Franke, Lude, Montgomery, Grant W., Goddard, Michael E., Gibson, Greg, Yang, Jian and Visscher, Peter M. (2021). Phantom epistasis between unlinked loci. Nature, 596 (7871), E1-E3. doi: 10.1038/s41586-021-03765-z

Protocol for a case-control study investigating the clinical phenotypes and genetic regulation of endometriosis in Indian women: The ECGRI study

Gajbhiye, Rahul K., Montgomery, Grant, Pai, Murlidhar V, Phukan, Pranay, Shekhar, Shashank, Padte, Kedar, Dasmahapatra, Pramathes, John, Bimal M., Shembekar, Chaitanya, Bhurke, Aishwarya V., Bagde, Nilajkumar, Kulkarni, Ketki, Sardeshpande, Nagendra, Humane, Anil, Mahobia, Swati, Shah, Millind, Singh, Uma, Srivastava, Aarti, Mishra, Gita, Warty, Neeta, Chandra, Sunita and Mahale, Smita D. (2021). Protocol for a case-control study investigating the clinical phenotypes and genetic regulation of endometriosis in Indian women: The ECGRI study. BMJ Open, 11 (8) e050844, e050844. doi: 10.1136/bmjopen-2021-050844

Genetic insights into biological mechanisms governing human ovarian ageing

Ruth, Katherine S., Day, Felix R., Hussain, Jazib, Martínez-Marchal, Ana, Aiken, Catherine E., Azad, Ajuna, Thompson, Deborah J., Knoblochova, Lucie, Abe, Hironori, Tarry-Adkins, Jane L., Gonzalez, Javier Martin, Fontanillas, Pierre, Claringbould, Annique, Bakker, Olivier B., Sulem, Patrick, Walters, Robin G., Terao, Chikashi, Turon, Sandra, Horikoshi, Momoko, Lin, Kuang, Onland-Moret, N. Charlotte, Sankar, Aditya, Hertz, Emil Peter Thrane, Timshel, Pascal N., Shukla, Vallari, Borup, Rehannah, Olsen, Kristina W., Aguilera, Paula, Ferrer-Roda, Mònica ... Perry, John R. B. (2021). Genetic insights into biological mechanisms governing human ovarian ageing. Nature, 596 (7872), 393-397. doi: 10.1038/s41586-021-03779-7

Genetic Relationship Between Endometriosis and Melanoma

Yang, Fei, Mortlock, Sally, MacGregor, Stuart, Iles, Mark M., Landi, Maria Teresa, Shi, Jianxin, Law, Matthew H., Montgomery, Grant W. and on behalf of The International Endometriosis Genetics Consortium (2021). Genetic Relationship Between Endometriosis and Melanoma. Frontiers in Reproductive Health, 3 711123, 1-10. doi: 10.3389/frph.2021.711123

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Mullins, Niamh, Forstner, Andreas J., O'Connell, Kevin S., Coombes, Brandon, Coleman, Jonathan R I, Qiao, Zhen, Als, Thomas D., Bigdeli, Tim B., Børte, Sigrid, Bryois, Julien, Charney, Alexander W., Drange, Ole Kristian, Gandal, Michael J., Hagenaars, Saskia P., Ikeda, Masashi, Kamitaki, Nolan, Kim, Minsoo, Krebs, Kristi, Panagiotaropoulou, Georgia, Schilder, Brian M., Sloofman, Laura G., Steinberg, Stacy, Trubetskoy, Vassily, Winsvold, Bendik S., Won, Hong-Hee, Abramova, Liliya, Adorjan, Kristina, Agerbo, Esben, Al Eissa, Mariam ... Andreassen, Ole A. (2021). Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature genetics, 53 (6), 817-829. doi: 10.1038/s41588-021-00857-4

Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders

Nabais, Marta F., Laws, Simon M., Lin, Tian, Vallerga, Costanza L., Armstrong, Nicola J., Blair, Ian P., Kwok, John B., Mather, Karen A., Mellick, George D., Sachdev, Perminder S., Wallace, Leanne, Henders, Anjali K., Zwamborn, Ramona A. J., Hop, Paul J., Lunnon, Katie, Pishva, Ehsan, Roubroeks, Janou A. Y., Soininen, Hilkka, Tsolaki, Magda, Mecocci, Patrizia, Lovestone, Simon, Kloszewska, Iwona, Vellas, Bruno, Furlong, Sarah, Garton, Fleur C., Henderson, Robert D., Mathers, Susan, McCombe, Pamela A., Needham, Merrilee ... McRae, Allan F. (2021). Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. Genome Biology, 22 (1) 90, 1-30. doi: 10.1186/s13059-021-02275-5

Genetic regulation of physiological reproductive lifespan and female fertility

McGrath, Isabelle M., Mortlock, Sally and Montgomery, Grant W. (2021). Genetic regulation of physiological reproductive lifespan and female fertility. International Journal of Molecular Sciences, 22 (5) 2556, 1-13. doi: 10.3390/ijms22052556

Prevalence and incidence of endometriosis in Australian women: a data linkage cohort study

Rowlands, I. J., Abbott, J. A., Montgomery, G. W., Hockey, R., Rogers, P. and Mishra, G. D. (2021). Prevalence and incidence of endometriosis in Australian women: a data linkage cohort study. BJOG, 128 (4) 1471-0528.16447, 657-665. doi: 10.1111/1471-0528.16447

Elucidating the role of long intergenic non-coding RNA 339 in human endometrium and endometriosis

Holdsworth-Carson, Sarah J., Churchill, Molly, Donoghue, Jacqueline F., Mortlock, Sally, Fung, Jenny N., Sloggett, Clare, Chung, Jessica, Cann, Leonie, Teh, Wan Tinn, Campbell, Katie-Rose, Luwor, Rodney, Healey, Martin, Montgomery, Grant, Girling, Jane E. and Rogers, Peter A. W. (2021). Elucidating the role of long intergenic non-coding RNA 339 in human endometrium and endometriosis. Molecular Human Reproduction, 27 (3) gaab010. doi: 10.1093/molehr/gaab010

Comparison of Familial, Polygenic and Biochemical Predictors of Mortality

Whitfield, John B., Colodro-Conde, Lucía, Timmers, Paul R. H. J., Joshi, Peter K., Montgomery, Grant W. and Martin, Nicholas G. (2021). Comparison of Familial, Polygenic and Biochemical Predictors of Mortality. Twin Research and Human Genetics, 23 (6), 307-315. doi: 10.1017/thg.2020.89

Genetic regulation of transcription in the endometrium in health and disease

Mortlock, Sally, McKinnon, Brett and Montgomery, Grant W. (2021). Genetic regulation of transcription in the endometrium in health and disease. Frontiers in Reproductive Health, 3 795464, 795464. doi: 10.3389/frph.2021.795464

Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium

Marla, S., Mortlock, S., Houshdaran, S., Fung, J., McKinnon, B., Holdsworth-Carson, S. J., Girling, J. E., Rogers, P. A. W., Giudice, L. C. and Montgomery, G. W. (2021). Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium. Molecular Human Reproduction, 27 (1) gaaa082. doi: 10.1093/molehr/gaaa082

Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour

Mills, Melinda C., Tropf, Felix C., Brazel, David M., van Zuydam, Natalie, Vaez, Ahmad, Agbessi, Mawussé, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand Kumar, Arindrarto, Wibowo, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Jan Bonder, Marc, Boomsma, Dorret I., Christiansen, Mark W., Claringbould, Annique, Deelen, Patrick, Esko, Tõnu, Favé, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Greg, Heijmans, Bastiaan T., Hemani, Gibran, Jansen, Rick, Kähönen, Mika, Kalnapenkis, Anette ... Human Reproductive Behaviour Consortium (2021). Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour. Nature Human Behaviour, 5 (12), 1717-1730. doi: 10.1038/s41562-021-01135-3

Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

Blokland, Gabriëlla A.M., Grove, Jakob, Chen, Chia-Yen, Cotsapas, Chris, Tobet, Stuart, Handa, Robert, Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T.R., Farh, Kai-How, Holmans, Peter A., Lee, Phil, Bulik-Sullivan, Brendan, Collier, David A., Huang, Hailiang, Pers, Tune H., Agartz, Ingrid, Agerbo, Esben, Albus, Margot, Alexander, Madeline, Amin, Farooq, Bacanu, Silviu A., Begemann, Martin, Belliveau, Richard A., Bene, Judit, Bergen, Sarah E., Bevilacqua, Elizabeth, Bigdeli, Tim B. ... iPSYCH (2021). Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders. Biological Psychiatry, 91 (1), 102-117. doi: 10.1016/j.biopsych.2021.02.972

A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine

Guo, Yanjun, Rist, Pamela M., Daghlas, Iyas, Giulianini, Franco, Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M., Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H. H. ... Chasman, Daniel I. (2020). A genome-wide cross-phenotype meta-analysis of the association of blood pressure with migraine. Nature Communications, 11 (1) 3368. doi: 10.1038/s41467-020-17002-0

A large-scale genome-wide association study meta-analysis of cannabis use disorder

Johnson, Emma C., Demontis, Ditte, Thorgeirsson, Thorgeir E., Walters, Raymond K., Polimanti, Renato, Hatoum, Alexander S., Sanchez-Roige, Sandra, Paul, Sarah E., Wendt, Frank R., Clarke, Toni-Kim, Lai, Dongbing, Reginsson, Gunnar W., Zhou, Hang, He, June, Baranger, David A. A., Gudbjartsson, Daniel F., Wedow, Robbee, Adkins, Daniel E., Adkins, Amy E., Alexander, Jeffry, Bacanu, Silviu-Alin, Bigdeli, Tim B., Boden, Joseph, Brown, Sandra A., Bucholz, Kathleen K., Bybjerg-Grauholm, Jonas, Corley, Robin P., Degenhardt, Louisa, Dick, Danielle M. ... Agrawal, Arpana (2020). A large-scale genome-wide association study meta-analysis of cannabis use disorder. The Lancet Psychiatry, 7 (12), 1032-1045. doi: 10.1016/S2215-0366(20)30339-4

A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

Shen, Xueyi, Howard, David M., Adams, Mark J., Hill, W. David, Clarke, Toni-Kim, Adams, Mark J., Clarke, Toni-Kim, McIntosh, Andrew M., Deary, Ian J., Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard ... McIntosh, Andrew M. (2020). A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank. Nature Communications, 11 (1) 2301. doi: 10.1038/s41467-020-16022-0

Genetic and environmental variation in educational attainment: an individual-based analysis of 28 twin cohorts

Silventoinen, Karri, Jelenkovic, Aline, Sund, Reijo, Latvala, Antti, Honda, Chika, Inui, Fujio, Tomizawa, Rie, Watanabe, Mikio, Sakai, Norio, Rebato, Esther, Busjahn, Andreas, Tyler, Jessica, Hopper, John L., Ordoñana, Juan R., Sánchez-Romera, Juan F., Colodro-Conde, Lucia, Calais-Ferreira, Lucas, Oliveira, Vinicius C., Ferreira, Paulo H., Medda, Emanuela, Nisticò, Lorenza, Toccaceli, Virgilia, Derom, Catherine A., Vlietinck, Robert F., Loos, Ruth J. F., Siribaddana, Sisira H., Hotopf, Matthew, Sumathipala, Athula, Rijsdijk, Fruhling ... Kaprio, Jaakko (2020). Genetic and environmental variation in educational attainment: an individual-based analysis of 28 twin cohorts. Scientific Reports, 10 (1) 12681, 12681. doi: 10.1038/s41598-020-69526-6

Habitual sleep disturbances and migraine: a Mendelian randomization study

Daghlas, Iyas, Vgontzas, Angeliki, Guo, Yanjun, Chasman, Daniel I., Saxena, Richa, Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M., Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia ... International Headache Genetics Consortium (2020). Habitual sleep disturbances and migraine: a Mendelian randomization study. Annals of Clinical and Translational Neurology, 7 (12), 2370-2380. doi: 10.1002/acn3.51228

The genetic architecture of sporadic and multiple consecutive miscarriage

Laisk, Triin, Soares, Ana Luiza G., Ferreira, Teresa, Painter, Jodie N., Censin, Jenny C., Laber, Samantha, Bacelis, Jonas, Chen, Chia-Yen, Lepamets, Maarja, Lin, Kuang, Liu, Siyang, Millwood, Iona Y., Ramu, Avinash, Southcombe, Jennifer, Andersen, Marianne S., Yang, Ling, Becker, Christian M., Børglum, Anders D., Gordon, Scott D., Bybjerg-Grauholm, Jonas, Helgeland, Øyvind, Hougaard, David M., Jin, Xin, Johansson, Stefan, Juodakis, Julius, Kartsonaki, Christiana, Kukushkina, Viktorija, Lind, Penelope A., Metspalu, Andres ... Lindgren, Cecilia M. (2020). The genetic architecture of sporadic and multiple consecutive miscarriage. Nature Communications, 11 (1) 5980, 1-12. doi: 10.1038/s41467-020-19742-5

Commentary: Lessons from molecular genetic studies on reporting false-positive results

Montgomery, Grant W. (2020). Commentary: Lessons from molecular genetic studies on reporting false-positive results. Reproduction, Fertility and Development, 32 (16), 1298-1300. doi: 10.1071/RD20281

Germline variants are associated with increased primary melanoma tumor thickness at diagnosis

Mangantig, Ernest, MacGregor, Stuart, Iles, Mark M., Scolyer, Richard A., Cust, Anne E., Hayward, Nicholas K., Montgomery, Grant W., Duffy, David L., Thompson, John F., Henders, Anjali, Bowdler, Lisa, Rowe, Casey, Cadby, Gemma, Mann, Graham J., Whiteman, David C., Long, Georgina V., Ward, Sarah V., Khosrotehrani, Kiarash, Barrett, Jennifer H. and Law, Matthew H. (2020). Germline variants are associated with increased primary melanoma tumor thickness at diagnosis. Human Molecular Genetics, 29 (21), 3578-3587. doi: 10.1093/hmg/ddaa222

Comparison of genome-wide association scans for quantitative and observational measures of human hair curvature

Ho, Yvonne Y. W., Mina-Vargas, Angela, Zhu, Gu, Brims, Mark, Mcnevin, Dennis, Montgomery, Grant W., Martin, Nicholas G., Medland, Sarah E. and Painter, Jodie N. (2020). Comparison of genome-wide association scans for quantitative and observational measures of human hair curvature. Twin Research and Human Genetics, 23 (5), 271-277. doi: 10.1017/thg.2020.78

Refining attention-deficit/hyperactivity disorder and autism spectrum disorder genetic loci by integrating summary data from genome-wide association, gene expression and DNA methylation studies

Hammerschlag, Anke R., Byrne, Enda M., Bartels, Meike, Wray, Naomi R., Middeldorp, Christel M., eQTLGen Consortium, BIOS Consortium, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Arindrarto, Wibowo, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Bonder, Marc Jan, Boomsma, Dorret I., Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tõnu, Favé, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan T., Hemani, Gibran, Jansen, Rick, Kähönen, Mika, Kalnapenkis, Anette ... Agbessi, Mawussé (2020). Refining attention-deficit/hyperactivity disorder and autism spectrum disorder genetic loci by integrating summary data from genome-wide association, gene expression and DNA methylation studies. Biological Psychiatry, 88 (6), 470-479. doi: 10.1016/j.biopsych.2020.05.002

Multiplex melanoma families are enriched for polygenic risk

Law, Matthew H., Aoude, Lauren G., Duffy, David L., Long, Georgina V., Johansson, Peter A., Pritchard, Antonia L., Khosrotehrani, Kiarash, Mann, Graham J., Montgomery, Grant W., Iles, Mark M., Cust, Anne E., Palmer, Jane M., Melanoma GWAS Consortium, Shannon, Kerwin F., Spillane, Andrew J., Stretch, Jonathan R., Thompson, John F., Saw, Robyn P. M., Scolyer, Richard A., Martin, Nicholas G., Hayward, Nicholas K. and MacGregor, Stuart (2020). Multiplex melanoma families are enriched for polygenic risk. Human Molecular Genetics, 29 (17), 2976-2985. doi: 10.1093/hmg/ddaa156

The genetics of endometriosis

Montgomery, Grant W. (2020). The genetics of endometriosis. Twin Research and Human Genetics, 23 (2), 1-2. doi: 10.1017/thg.2020.36

Cellular origins of endometriosis: towards novel diagnostics and therapeutics

Filby, Caitlin E., Rombauts, Luk, Montgomery, Grant W., Giudice, Linda C. and Gargett, Caroline E. (2020). Cellular origins of endometriosis: towards novel diagnostics and therapeutics. Seminars in Reproductive Medicine, 38 (2-3), 201-215. doi: 10.1055/s-0040-1713429

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Landi, Maria Teresa, GenoMEL Consortium, Bishop, D. Timothy, MacGregor, Stuart, Machiela, Mitchell J., Stratigos, Alexander J., Ghiorzo, Paola, Brossard, Myriam, Calista, Donato, Choi, Jiyeon, Fargnoli, Maria Concetta, Zhang, Tongwu, Rodolfo, Monica, Trower, Adam J., Menin, Chiara, Martinez, Jacobo, Hadjisavvas, Andreas, Song, Lei, Stefanaki, Irene, Scolyer, Richard, Yang, Rose, Goldstein, Alisa M., Potrony, Miriam, Kypreou, Katerina P., Pastorino, Lorenza, Queirolo, Paola, Pellegrini, Cristina, Cattaneo, Laura, Zawistowski, Matthew ... MelaNostrum Consortium (2020). Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility. Nature Genetics, 52 (5), 494-504. doi: 10.1038/s41588-020-0611-8

Author's reply

Montgomery, Grant W., Mortlock, Sally and Giudice, Linda C. (2020). Author's reply. Journal of Minimally Invasive Gynecology, 27 (6), 1427. doi: 10.1016/j.jmig.2020.04.021

Association of polygenic score for major depression with response to lithium in patients with bipolar disorder

Amare, Azmeraw T., Schubert, Klaus Oliver, Hou, Liping, Clark, Scott R., Papiol, Sergi, Cearns, Micah, Heilbronner, Urs, Degenhardt, Franziska, Tekola-Ayele, Fasil, Hsu, Yi-Hsiang, Shekhtman, Tatyana, Adli, Mazda, Akula, Nirmala, Akiyama, Kazufumi, Ardau, Raffaella, Arias, Bárbara, Aubry, Jean-Michel, Backlund, Lena, Bhattacharjee, Abesh Kumar, Bellivier, Frank, Benabarre, Antonio, Bengesser, Susanne, Biernacka, Joanna M., Birner, Armin, Brichant-Petitjean, Clara, Cervantes, Pablo, Chen, Hsi-Chung, Chillotti, Caterina, Cichon, Sven ... Baune, Bernhard T. (2020). Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Molecular Psychiatry, 26 (6), 2457-2470. doi: 10.1038/s41380-020-0689-5

Analysis of DNA methylation associates the cystine–glutamate antiporter SLC7A11 with risk of Parkinson’s disease

Vallerga, Costanza L., Zhang, Futao, Fowdar, Javed, McRae, Allan F., Qi, Ting, Nabais, Marta F., Zhang, Qian, Kassam, Irfahan, Henders, Anjali K., Wallace, Leanne, Montgomery, Grant, Chuang, Yu-Hsuan, Horvath, Steve, Ritz, Beate, Halliday, Glenda, Hickie, Ian, Kwok, John B., Pearson, John, Pitcher, Toni, Kennedy, Martin, Bentley, Steven R., Silburn, Peter A., Yang, Jian, Wray, Naomi R., Lewis, Simon J. G., Anderson, Tim, Dalrymple-Alford, John, Mellick, George D., Visscher, Peter M. and Gratten, Jacob (2020). Analysis of DNA methylation associates the cystine–glutamate antiporter SLC7A11 with risk of Parkinson’s disease. Nature Communications, 11 (1) 1238, 1238. doi: 10.1038/s41467-020-15065-7

Genome-wide association analysis in humans links nucleotide metabolism to Leukocyte Telomere Length

Li, Chen, Stoma, Svetlana, Lotta, Luca A., Warner, Sophie, Albrecht, Eva, Allione, Alessandra, Arp, Pascal P., Broer, Linda, Buxton, Jessica L., Da Silva Couto Alves, Alexessander, Deelen, Joris, Fedko, Iryna O., Gordon, Scott D., Jiang, Tao, Karlsson, Robert, Kerrison, Nicola, Loe, Taylor K., Mangino, Massimo, Milaneschi, Yuri, Miraglio, Benjamin, Pervjakova, Natalia, Russo, Alessia, Surakka, Ida, van der Spek, Ashley, Verhoeven, Josine E., Amin, Najaf, Beekman, Marian, Blakemore, Alexandra I., Canzian, Federico ... Codd, Veryan (2020). Genome-wide association analysis in humans links nucleotide metabolism to Leukocyte Telomere Length. American Journal of Human Genetics, 106 (3), 389-404. doi: 10.1016/j.ajhg.2020.02.006

Shared molecular genetic mechanisms underlie endometriosis and migraine comorbidity

Adewuyi, Emmanuel O., Sapkota, Yadav, Auta, Asa, Yoshihara, Kosuke, Nyegaard, Mette, Griffiths, Lyn R., Montgomery, Grant W., Chasman, Daniel I. and Nyholt, Dale R. (2020). Shared molecular genetic mechanisms underlie endometriosis and migraine comorbidity. Genes, 11 (3) 268, 268. doi: 10.3390/genes11030268

Tissue specific regulation of transcription in endometrium and association with disease

Mortlock, Sally, Kendarsari, Raden I., Fung, Jenny N., Gibson, Greg, Yang, Fei, Restuadi, Restuadi, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Lukowski, Samuel W., Healey, Martin, Qi, Ting, Rogers, Peter A. W., Yang, Jian, McKinnon, Brett and Montgomery, Grant W. (2020). Tissue specific regulation of transcription in endometrium and association with disease. Human Reproduction, 35 (2), 377-393. doi: 10.1093/humrep/dez279

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

Craig, Jamie E., Han, Xikun, Qassim, Ayub, Hassall, Mark, Cooke Bailey, Jessica N., Kinzy, Tyler G., Khawaja, Anthony P., An, Jiyuan, Marshall, Henry, Gharahkhani, Puya, Igo, Robert P., Graham, Stuart L., Healey, Paul R., Ong, Jue-Sheng, Zhou, Tiger, Siggs, Owen, Law, Matthew H., Souzeau, Emmanuelle, Ridge, Bronwyn, Hysi, Pirro G., Burdon, Kathryn P., Mills, Richard A., Landers, John, Ruddle, Jonathan B., Agar, Ashish, Galanopoulos, Anna, White, Andrew J. R., Willoughby, Colin E., Andrew, Nicholas H. ... MacGregor, Stuart (2020). Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nature Genetics, 52 (2), 160-166. doi: 10.1038/s41588-019-0556-y

Correction to: Overlapping genetic architecture between Parkinson disease and melanoma (Acta Neuropathologica, (2020), 139, 2, (347-364), 10.1007/s00401-019-02110-z)

Dube, Umber, Ibanez, Laura, Budde, John P., Benitez, Bruno A., Davis, Albert A., Harari, Oscar, Iles, Mark M., Law, Matthew H., Brown, Kevin M., Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah, Sazonova, Olga V. ... Cruchaga, Carlos (2020). Correction to: Overlapping genetic architecture between Parkinson disease and melanoma (Acta Neuropathologica, (2020), 139, 2, (347-364), 10.1007/s00401-019-02110-z). Acta Neuropathologica, 139 (5), 963-963. doi: 10.1007/s00401-020-02143-9

Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease

Bryois, Julien, Skene, Nathan G., Hansen, Thomas Folkmann, Kogelman, Lisette J. A., Watson, Hunna J., Liu, Zijing, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Baker, Jessica, Bergen, Andrew, Berrettini, Wade, Birgegård, Andreas, Boden, Joseph, Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna, Brandt, Harry, Breen, Gerome, Bryois, Julien, Buehren, Katharina, Bulik, Cynthia, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Clementi, Maurizio, Coleman, Jonathan, Cone, Roger ... Sullivan, Patrick F. (2020). Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease. Nature Genetics, 52 (5), 482-493. doi: 10.1038/s41588-020-0610-9

Obesity does not alter endometrial gene expression in women with endometriosis

Holdsworth-Carson, Sarah J, Chung, Jessica, Sloggett, Clare, Mortlock, Sally, Fung, Jenny N., Montgomery, Grant W., Dior, Uri P., Healey, Martin, Rogers, Peter A.W. and Girling, Jane E. (2020). Obesity does not alter endometrial gene expression in women with endometriosis. Reproductive BioMedicine Online, 41 (1), 113-118. doi: 10.1016/j.rbmo.2020.03.015

Shared genetic risk between eating disorder- and substance-use-related phenotypes: evidence from genome-wide association studies

Munn-Chernoff, Melissa A., Johnson, Emma C., Chou, Yi-Ling, Coleman, Jonathan R.I., Thornton, Laura M., Walters, Raymond K., Yilmaz, Zeynep, Baker, Jessica H., Hübel, Christopher, Gordon, Scott, Medland, Sarah E., Watson, Hunna J., Gaspar, Héléna A., Bryois, Julien, Hinney, Anke, Leppä, Virpi M., Mattheisen, Manuel, Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B., Adan, Roger A.H., Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A., Berrettini, Wade H., Boehm, Ilka, Boni, Claudette, Boraska Perica, Vesna ... Agrawal, Arpana (2020). Shared genetic risk between eating disorder- and substance-use-related phenotypes: evidence from genome-wide association studies. Addiction Biology, 26 (1) e12880, e12880. doi: 10.1111/adb.12880

The role of the endocannabinoid system in aetiopathogenesis of endometriosis: a potential therapeutic target

Tanaka, Keisuke, Mayne, Leah, Khalil, Akram, Baartz, David, Eriksson, Lars, Mortlock, Sally-Anne, Montgomery, Grant, McKinnon, Brett and Amoako, Akwasi A. (2020). The role of the endocannabinoid system in aetiopathogenesis of endometriosis: a potential therapeutic target. European Journal of Obstetrics and Gynecology and Reproductive Biology, 244, 87-94. doi: 10.1016/j.ejogrb.2019.11.012

Genotype-free demultiplexing of pooled single-cell RNA-seq

Xu, Jun, Falconer, Caitlin, Nguyen, Quan, Crawford, Joanna, McKinnon, Brett D., Mortlock, Sally, Senabouth, Anne, Andersen, Stacey, Chiu, Han Sheng, Jiang, Longda, Palpant, Nathan J., Yang, Jian, Mueller, Michael D., Hewitt, Alex W., Pébay, Alice, Montgomery, Grant W., Powell, Joseph E. and Coin, Lachlan J. M. (2019). Genotype-free demultiplexing of pooled single-cell RNA-seq. Genome Biology, 20 (1) 290, 290. doi: 10.1186/s13059-019-1852-7

Overlapping genetic architecture between Parkinson disease and melanoma

Dube, Umber, Ibanez, Laura, Budde, John P., Benitez, Bruno A., Davis, Albert A., Harari, Oscar, Iles, Mark M., Law, Matthew H., Brown, Kevin M., Cruchaga, Carlos, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Hinds, David A., Huber, Karen E., Kleinman, Aaron, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A. M., Pitts, Steven J., Sathirapongsasuti, J. Fah ... Iles, M. M. (2019). Overlapping genetic architecture between Parkinson disease and melanoma. Acta Neuropathologica, 139 (2), 347-364. doi: 10.1007/s00401-019-02110-z

Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders

Lee, Phil H., Anttila, Verneri, Won, Hyejung, Feng, Yen-Chen A., Rosenthal, Jacob, Zhu, Zhaozhong, Tucker-Drob, Elliot M., Nivard, Michel G., Grotzinger, Andrew D., Posthuma, Danielle, Wang, Meg M.-J., Yu, Dongmei, Stahl, Eli A., Walters, Raymond K., Anney, Richard J.L., Duncan, Laramie E., Ge, Tian, Adolfsson, Rolf, Banaschewski, Tobias, Belangero, Sintia, Cook, Edwin H., Coppola, Giovanni, Derks, Eske M., Hoekstra, Pieter J., Kaprio, Jaakko, Keski-Rahkonen, Anna, Kirov, George, Kranzler, Henry R., Luykx, Jurjen J. ... Smoller, Jordan W. (2019). Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders. Cell, 179 (7), 1469-1482.e11. doi: 10.1016/j.cell.2019.11.020

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies

Nalls, Mike A, Blauwendraat, Cornelis, Vallerga, Costanza L, Heilbron, Karl, Bandres-Ciga, Sara, Chang, Diana, Tan, Manuela, Kia, Demis A, Noyce, Alastair J, Xue, Angli, Bras, Jose, Young, Emily, von Coelln, Rainer, Simón-Sánchez, Javier, Schulte, Claudia, Sharma, Manu, Krohn, Lynne, Pihlstrøm, Lasse, Siitonen, Ari, Iwaki, Hirotaka, Leonard, Hampton, Faghri, Faraz, Gibbs, J Raphael, Hernandez, Dena G, Scholz, Sonja W, Botia, Juan A, Martinez, Maria, Corvol, Jean-Christophe, Lesage, Suzanne ... Zhang, Futao (2019). Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet Neurology, 18 (12), 1091-1102. doi: 10.1016/S1474-4422(19)30320-5

Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns

Czamara, Darina, Eraslan, Gökçen, Page, Christian M., Lahti, Jari, Lahti-Pulkkinen, Marius, Hämäläinen, Esa, Kajantie, Eero, Laivuori, Hannele, Villa, Pia M., Reynolds, Rebecca M., Nystad, Wenche, Håberg, Siri E., London, Stephanie J., O’Donnell, Kieran J., Garg, Elika, Meaney, Michael J., Entringer, Sonja, Wadhwa, Pathik D., Buss, Claudia, Jones, Meaghan J., Lin, David T. S., MacIsaac, Julie L., Kobor, Michael S., Koen, Nastassja, Zar, Heather J., Koenen, Karestan C., Dalvie, Shareefa, Stein, Dan J., Kondofersky, Ivan ... Binder, Elisabeth B. (2019). Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns. Nature Communications, 10 (1) 2548. doi: 10.1038/s41467-019-10461-0

The CODATwins Project: the current status and recent findings of COllaborative Project of Development of Anthropometrical Measures in Twins

Silventoinen, K., Jelenkovic, A., Yokoyama, Y., Sund, R., Sugawara, M., Tanaka, M., Matsumoto, S., Bogl, L. H., Freitas, D. L., Maia, J. A., Hjelmborg, J. V.B., Aaltonen, S., Piirtola, M., Latvala, A., Calais-Ferreira, L., Oliveira, V. C., Ferreira, P. H., Ji, F., Ning, F., Pang, Z., Ordoñana, J. R., Sánchez-Romera, J. F., Colodro-Conde, L., Burt, S. A., Klump, K. L., Martin, N. G., Medland, S. E., Montgomery, G. W., Kandler, C. ... Kaprio, J. (2019). The CODATwins Project: the current status and recent findings of COllaborative Project of Development of Anthropometrical Measures in Twins. Twin Research and Human Genetics, 22 (6) PII S1832427419000355, 1-9. doi: 10.1017/thg.2019.35

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

Andlauer, Till F. M., Guzman-Parra, Jose, Streit, Fabian, Strohmaier, Jana, González, Maria José, Gil Flores, Susana, Cabaleiro Fabeiro, Francisco J., del Río Noriega, Francisco, Perez, Fermin Perez, Haro González, Jesus, Orozco Diaz, Guillermo, de Diego-Otero, Yolanda, Moreno-Küstner, Berta, Auburger, Georg, Degenhardt, Franziska, Heilmann-Heimbach, Stefanie, Herms, Stefan, Hoffmann, Per, Frank, Josef, Foo, Jerome C., Treutlein, Jens, Witt, Stephanie H., Cichon, Sven, Kogevinas, Manolis, Stahl, Eli A, Breen, Gerome, Forstner, Andreas J, McQuillin, Andrew, Ripke, Stephan ... Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium (2019). Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders. Molecular Psychiatry, 26 (4), 1286-1298. doi: 10.1038/s41380-019-0558-2

Should genetics now be considered the pre-eminent etiologic factor in endometriosis?

Montgomery, Grant W., Mortlock, Sally and Giudice, Linda C. (2019). Should genetics now be considered the pre-eminent etiologic factor in endometriosis?. Journal of Minimally Invasive Gynecology, 27 (2), 280-286. doi: 10.1016/j.jmig.2019.10.020

The genetics of the mood disorder spectrum: Genome-wide association analyses of more than 185,000 cases and 439,000 controls

Coleman, Jonathan R.I., Gaspar, Héléna A., Bryois, Julien, Byrne, Enda M., Forstner, Andreas J., Holmans, Peter A., de Leeuw, Christiaan A., Mattheisen, Manuel, McQuillin, Andrew, Whitehead Pavlides, Jennifer M., Pers, Tune H., Ripke, Stephan, Stahl, Eli A., Steinberg, Stacy, Trubetskoy, Vassily, Trzaskowski, Maciej, Wang, Yunpeng, Abbott, Liam, Abdellaoui, Abdel, Adams, Mark J., Adolfsson, Annelie Nordin, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Andlauer, Till F.M., Anjorin, Adebayo, Antilla, Verneri ... Breen, Gerome (2019). The genetics of the mood disorder spectrum: Genome-wide association analyses of more than 185,000 cases and 439,000 controls. Biological Psychiatry, 88 (2), 169-184. doi: 10.1016/j.biopsych.2019.10.015

Associations of autozygosity with a broad range of human phenotypes

Clark, David W., Okada, Yukinori, Moore, Kristjan H. S., Mason, Dan, Pirastu, Nicola, Gandin, Ilaria, Mattsson, Hannele, Barnes, Catriona L. K., Lin, Kuang, Zhao, Jing Hua, Deelen, Patrick, Rohde, Rebecca, Schurmann, Claudia, Guo, Xiuqing, Giulianini, Franco, Zhang, Weihua, Medina-Gomez, Carolina, Karlsson, Robert, Bao, Yanchun, Bartz, Traci M., Baumbach, Clemens, Biino, Ginevra, Bixley, Matthew J., Brumat, Marco, Chai, Jin-Fang, Corre, Tanguy, Cousminer, Diana L., Dekker, Annelot M., Eccles, David A. ... Wilson, James F. (2019). Associations of autozygosity with a broad range of human phenotypes. Nature Communications, 10 (1) 4957, 4957. doi: 10.1038/s41467-019-12283-6

Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

Gallagher, C. S., Mäkinen, N., Harris, H. R., Rahmioglu, N., Uimari, O., Cook, J. P., Shigesi, N., Ferreira, T., Velez-Edwards, D. R., Edwards, T. L., Mortlock, S., Ruhioglu, Z., Day, F., Becker, C. M., Karhunen, V., Martikainen, H., Järvelin, M.-R., Cantor, R. M., Ridker, P. M., Terry, K. L., Buring, J. E., Gordon, S. D., Medland, S. E., Montgomery, G. W., Nyholt, D. R., Hinds, D. A., Tung, J. Y., Perry, J. R. B., Lind, P. A. ... Morton, C. C. (2019). Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis. Nature Communications, 10 (1) 4857, 4857. doi: 10.1038/s41467-019-12536-4

Genetic architecture of subcortical brain structures in 38,851 individuals

Satizabal, Claudia L., Adams, Hieab H. H., Hibar, Derrek P., White, Charles C., Knol, Maria J., Stein, Jason L., Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady V., Smith, Albert V., Bis, Joshua C., Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J., Yang, Jingyun, Yanek, Lisa R., Lee, Tom V., Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D., Desrivières, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentería, Miguel E. ... Ikram, M. Arfan (2019). Genetic architecture of subcortical brain structures in 38,851 individuals. Nature Genetics, 51 (11), 1624-1636. doi: 10.1038/s41588-019-0511-y

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels

Tin, Adrienne, Marten, Jonathan, Halperin Kuhns, Victoria L., Li, Yong, Wuttke, Matthias, Kirsten, Holger, Sieber, Karsten B., Qiu, Chengxiang, Gorski, Mathias, Yu, Zhi, Giri, Ayush, Sveinbjornsson, Gardar, Li, Man, Chu, Audrey Y., Hoppmann, Anselm, O’Connor, Luke J., Prins, Bram, Nutile, Teresa, Noce, Damia, Akiyama, Masato, Cocca, Massimiliano, Ghasemi, Sahar, van der Most, Peter J., Horn, Katrin, Xu, Yizhe, Fuchsberger, Christian, Sedaghat, Sanaz, Afaq, Saima, Amin, Najaf ... Köttgen, Anna (2019). Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. Nature Genetics, 51 (10), 1459-1474. doi: 10.1038/s41588-019-0504-x

Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing

Zhang, Qian, Vallerga, Costanza L., Walker, Rosie M., Lin, Tian, Henders, Anjali K., Montgomery, Grant W., He, Ji, Fan, Dongsheng, Fowdar, Javed, Kennedy, Martin, Pitcher, Toni, Pearson, John, Halliday, Glenda, Kwok, John B., Hickie, Ian, Lewis, Simon, Anderson, Tim, Silburn, Peter A., Mellick, George D., Harris, Sarah E., Redmond, Paul, Murray, Alison D., Porteous, David J., Haley, Christopher S., Evans, Kathryn L., McIntosh, Andrew M., Yang, Jian, Gratten, Jacob, Marioni, Riccardo E. ... Visscher, Peter M. (2019). Improved precision of epigenetic clock estimates across tissues and its implication for biological ageing. Genome Medicine, 11 (1) 54, 54. doi: 10.1186/s13073-019-0667-1

Metabolomics reveals a link between homocysteine and lipid metabolism and leukocyte telomere length: the ENGAGE consortium

Van der Spek, Ashley, Broer, Linda, Draisma, Harmen H. M., Pool, René, Albrecht, Eva, Beekman, Marian, Mangino, Massimo, Raag, Mait, Nyholt, Dale R., Dharuri, Harish K., Codd, Veryan, Amin, Najaf, de Geus, Eco J. C., Deelen, Joris, Demirkan, Ayse, Yet, Idil, Fischer, Krista, Haller, Toomas, Henders, Anjali K., Isaacs, Aaron, Medland, Sarah E., Montgomery, Grant W., Mooijaart, Simon P., Strauch, Konstantin, Suchiman, H. Eka D., Vaarhorst, Anika A. M., van Heemst, Diana, Wang-Sattler, Rui, Whitfield, John B. ... Gieger, Christian (2019). Metabolomics reveals a link between homocysteine and lipid metabolism and leukocyte telomere length: the ENGAGE consortium. Scientific Reports, 9 (1) 11623, 11623. doi: 10.1038/s41598-019-47282-6

Classical human leukocyte antigen alleles and C4 haplotypes are not significantly associated With depression

Glanville, Kylie P., Coleman, Jonathan R. I., Hanscombe, Ken B., Euesden, Jack, Choi, Shing Wan, Purves, Kirstin L., Breen, Gerome, Air, Tracy M., Andlauer, Till F. M., Baune, Bernhard T., Binder, Elisabeth B., Blackwood, Douglas H. R., Boomsma, Dorret I., Buttenschøn, Henriette N., Colodro-Conde, Lucía, Dannlowski, Udo, Direk, Nese, Dunn, Erin C., Forstner, Andreas J., de Geus, Eco J. C., Grabe, Hans J., Hamilton, Steven P., Jones, Ian, Jones, Lisa A., Knowles, James A., Kutalik, Zoltán, Levinson, Douglas F., Lewis, Glyn, Lind, Penelope A. ... Børglum, Anders D. (2019). Classical human leukocyte antigen alleles and C4 haplotypes are not significantly associated With depression. Biological Psychiatry, 87 (5), 419-430. doi: 10.1016/j.biopsych.2019.06.031

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

Porcu, Eleonora, Rüeger, Sina, Lepik, Kaido, Agbessi, Mawussé, Ahsan, Habibul, Alves, Isabel, Andiappan, Anand, Arindrarto, Wibowo, Awadalla, Philip, Battle, Alexis, Beutner, Frank, Jan Bonder, Marc, Boomsma, Dorret, Christiansen, Mark, Claringbould, Annique, Deelen, Patrick, Esko, Tõnu, Favé, Marie-Julie, Franke, Lude, Frayling, Timothy, Gharib, Sina A., Gibson, Gregory, Heijmans, Bastiaan T., Hemani, Gibran, Jansen, Rick, Kähönen, Mika, Kalnapenkis, Anette, Kasela, Silva, Kettunen, Johannes ... Kutalik, Zoltán (2019). Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits. Nature Communications, 10 (1) 3300. doi: 10.1038/s41467-019-10936-0

Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data

Romagnoni, Alberto, Jégou, Simon, Van Steen, Kristel, Wainrib, Gilles, Hugot, Jean-Pierre, Peyrin-Biroulet, Laurent, Chamaillard, Mathias, Colombel, Jean-Frederick, Cottone, Mario, D’Amato, Mauro, D’Incà, Renata, Halfvarson, Jonas, Henderson, Paul, Karban, Amir, Kennedy, Nicholas A., Khan, Mohammed Azam, Lémann, Marc, Levine, Arie, Massey, Dunecan, Milla, Monica, Ng, Sok Meng Evelyn, Oikonomou, Ioannis, Peeters, Harald, Proctor, Deborah D., Rahier, Jean-Francois, Rutgeerts, Paul, Seibold, Frank, Stronati, Laura, Taylor, Kirstin M. ... Whittaker, Pamela (2019). Comparative performances of machine learning methods for classifying Crohn Disease patients using genome-wide genotyping data. Scientific Reports, 9 (1) 10351. doi: 10.1038/s41598-019-46649-z

Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa

Watson, Hunna J., Yilmaz, Zeynep, Thornton, Laura M., Hübel, Christopher, Coleman, Jonathan R. I., Gaspar, Héléna A., Bryois, Julien, Hinney, Anke, Leppä, Virpi M., Mattheisen, Manuel, Medland, Sarah E., Ripke, Stephan, Yao, Shuyang, Giusti-Rodríguez, Paola, Hanscombe, Ken B., Purves, Kirstin L., Adan, Roger A. H., Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole A., Baker, Jessica H., Berrettini, Wade H., Boehm, Ilka, Boni, Claudette, Perica, Vesna Boraska, Buehren, Katharina, Burghardt, Roland, Cassina, Matteo, Cichon, Sven ... Bulik, Cynthia M. (2019). Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nature Genetics, 51 (8), 1207-1214. doi: 10.1038/s41588-019-0439-2

The effect of X-linked dosage compensation on complex trait variation

Sidorenko, Julia, Kassam, Irfahan, Kemper, Kathryn E., Zeng, Jian, Lloyd-Jones, Luke R., Montgomery, Grant W., Gibson, Greg, Metspalu, Andres, Esko, Tonu, Yang, Jian, McRae, Allan F. and Visscher, Peter M. (2019). The effect of X-linked dosage compensation on complex trait variation. Nature Communications, 10 (1) 3009, 3009. doi: 10.1038/s41467-019-10598-y

Comprehensive multiple eQTL detection and its application to GWAS interpretation

Zeng, Biao, Lloyd-Jones, Luke R., Montgomery, Grant W., Metspalu, Andres, Esko, Tonu, Franke, Lude, Vosa, Urmo, Claringbould, Annique, Brigham, Kenneth L., Quyyumi, Arshed A., Idaghdour, Youssef, Yang, Jian, Visscher, Peter M., Powell, Joseph E. and Gibson, Greg (2019). Comprehensive multiple eQTL detection and its application to GWAS interpretation. Genetics, 212 (3), 905-918. doi: 10.1534/genetics.119.302091

Author Correction: GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability

Pasman, Joëlle A., Verweij, Karin J. H., Gerring, Zachary, Stringer, Sven, Sanchez-Roige, Sandra, Treur, Jorien L., Abdellaoui, Abdel, Nivard, Michel G., Baselmans, Bart M. L., Ong, Jue-Sheng, Ip, Hill F., van der Zee, Matthijs D., Bartels, Meike, Day, Felix R., Fontanillas, Pierre, Elson, Sarah L., de Wit, Harriet, Davis, Lea K., MacKillop, James, Derringer, Jaime L., Branje, Susan J. T., Hartman, Catharina A., Heath, Andrew C., van Lier, Pol A. C., Madden, Pamela A. F., Mägi, Reedik, Meeus, Wim, Montgomery, Grant W., Oldehinkel, A. J. ... Vink, Jacqueline M. (2019). Author Correction: GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal effect of schizophrenia liability. Nature Neuroscience, 22 (7), 1196-1196. doi: 10.1038/s41593-019-0402-7

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics, (2018), 50, 1, (26-41), 10.1038/s41588-017-0011-x)

Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M. ... Loos, Ruth J. F. (2019). Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (Nature Genetics, (2018), 50, 1, (26-41), 10.1038/s41588-017-0011-x). Nature Genetics, 51 (7), 1191-1192. doi: 10.1038/s41588-019-0447-2

A catalog of genetic loci associated with kidney function from analyses of a million individuals

Wuttke, Matthias, Li, Yong, Li, Man, Sieber, Karsten B., Feitosa, Mary F., Gorski, Mathias, Tin, Adrienne, Wang, Lihua, Chu, Audrey Y., Hoppmann, Anselm, Kirsten, Holger, Giri, Ayush, Chai, Jin-Fang, Sveinbjornsson, Gardar, Tayo, Bamidele O., Nutile, Teresa, Fuchsberger, Christian, Marten, Jonathan, Cocca, Massimiliano, Ghasemi, Sahar, Xu, Yizhe, Horn, Katrin, Noce, Damia, van der Most, Peter J., Sedaghat, Sanaz, Yu, Zhi, Akiyama, Masato, Afaq, Saima, Ahluwalia, Tarunveer S. ... Pattaro, Cristian (2019). A catalog of genetic loci associated with kidney function from analyses of a million individuals. Nature Genetics, 51 (6), 957-972. doi: 10.1038/s41588-019-0407-x

Author correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

Davies, Gail, Lam, Max, Harris, Sarah E., Trampush, Joey W., Luciano, Michelle, Hill, W. David, Hagenaars, Saskia P., Ritchie, Stuart J., Marioni, Riccardo E., Fawns-Ritchie, Chloe, Liewald, David C. M., Okely, Judith A., Ahola-Olli, Ari V., Barnes, Catriona L. K., Bertram, Lars, Bis, Joshua C., Burdick, Katherine E., Christoforou, Andrea, DeRosse, Pamela, Djurovic, Srdjan, Espeseth, Thomas, Giakoumaki, Stella, Giddaluru, Sudheer, Gustavson, Daniel E., Hayward, Caroline, Hofer, Edith, Ikram, M. Arfan, Karlsson, Robert, Knowles, Emma ... Deary, Ian J. (2019). Author correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nature Communications, 10 (1) 2068, 2068. doi: 10.1038/s41467-019-10160-w

Genome-wide association study identifies 30 loci associated with bipolar disorder

Stahl, Eli A., Breen, Gerome, Forstner, Andreas J., McQuillin, Andrew, Ripke, Stephan, Trubetskoy, Vassily, Mattheisen, Manuel, Wang, Yunpeng, Coleman, Jonathan R. I., Gaspar, Héléna A., de Leeuw, Christiaan A., Steinberg, Stacy, Pavlides, Jennifer M. Whitehead, Trzaskowski, Maciej, Byrne, Enda M., Pers, Tune H., Holmans, Peter A., Richards, Alexander L., Abbott, Liam, Agerbo, Esben, Akil, Huda, Albani, Diego, Alliey-Rodriguez, Ney, Als, Thomas D., Anjorin, Adebayo, Antilla, Verneri, Awasthi, Swapnil, Badner, Judith A., Bækvad-Hansen, Marie ... Sklar, Pamela (2019). Genome-wide association study identifies 30 loci associated with bipolar disorder. Nature Genetics, 51 (5), 793-803. doi: 10.1038/s41588-019-0397-8

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Warrington, Nicole M., Beaumont, Robin N., Horikoshi, Momoko, Day, Felix R., Helgeland, Øyvind, Laurin, Charles, Bacelis, Jonas, Peng, Shouneng, Hao, Ke, Feenstra, Bjarke, Wood, Andrew R., Mahajan, Anubha, Tyrrell, Jessica, Robertson, Neil R., Rayner, N. William, Qiao, Zhen, Moen, Gunn-Helen, Vaudel, Marc, Marsit, Carmen J., Chen, Jia, Nodzenski, Michael, Schnurr, Theresia M., Zafarmand, Mohammad H., Bradfield, Jonathan P., Grarup, Niels, Kooijman, Marjolein N., Li-Gao, Ruifang, Geller, Frank, Paternoster, Lavinia ... Freathy, Rachel M. (2019). Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. Nature Genetics, 51 (5), 804-814. doi: 10.1038/s41588-019-0403-1

Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability

Reynolds, Regina H., Botia, Juan, Nalls, Mike A., Hardy, John, Taliun, Sarah A. Gagliano, Ryten, Mina, Noyce, Alastair J., Nicolas, Aude, Cookson, Mark R., Bandres-Ciga, Sara, Gibbs, J. Raphael, Hernandez, Dena G., Singleton, Andrew B., Reed, Xylena, Leonard, Hampton, Blauwendraat, Cornelis, Faghri, Faraz, Bras, Jose, Guerreiro, Rita, Tucci, Arianna, Kia, Demis A., Houlden, Henry, Plun-Favreau, Helene, Mok, Kin Y., Wood, Nicholas W., Lovering, Ruth, R'Bibo, Lea, Rizig, Mie, Chelban, Viorica ... Pearson, John (2019). Moving beyond neurons: the role of cell type-specific gene regulation in Parkinson's disease heritability. Npj Parkinsons Disease, 5 (1) 6, 6. doi: 10.1038/s41531-019-0076-6

Assessment of bidirectional relationships between physical activity and depression among adults A 2-Sample mendelian randomization study

Choi, Karmel W., Chen, Chia-Yen, Stein, Murray B., Klimentidis, Yann C., Wang, Min-Jung, Koenen, Karestan C., Smoller, Jordan W., Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, TracyM., Andlauer, Till F. M., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H. R., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Hvarregaard, Jane ... Sullivan, Patrick F. (2019). Assessment of bidirectional relationships between physical activity and depression among adults A 2-Sample mendelian randomization study. JAMA Psychiatry, 76 (4), 399-408. doi: 10.1001/jamapsychiatry.2018.4175

Integrative genome-scale DNA methylation analysis of a large and unselected cohort reveals five distinct subtypes of colorectal adenocarcinomas

Fennell, Lochlan, Dumenil, Troy, Wockner, Leesa, Hartel, Gunter, Nones, Katia, Bond, Catherine, Borowsky, Jennifer, Liu, Cheng, McKeone, Diane, Bowdler, Lisa, Montgomery, Grant, Klein, Kerenaftali, Hoffmann, Isabell, Patch, Ann-Marie, Kazakoff, Stephen, Pearson, John, Waddell, Nicola, Wirapati, Pratyaksha, Lochhead, Paul, Imamura, Yu, Ogino, Shuji, Shao, Renfu, Tejpar, Sabine, Leggett, Barbara and Whitehall, Vicki (2019). Integrative genome-scale DNA methylation analysis of a large and unselected cohort reveals five distinct subtypes of colorectal adenocarcinomas. Cellular and Molecular Gastroenterology and Hepatology, 8 (2), 269-290. doi: 10.1016/j.jcmgh.2019.04.002

Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases

Mortlock, Sally, Restuadi, Restuadi, Levien, Rupert, Girling, Jane E., Holdsworth-Carson, Sarah J., Healey, Martin, Zhu, Zhihong, Qi, Ting, Wu, Yang, Lukowski, Samuel W., Rogers, Peter A. W., Yang, Jian, McRae, Allan F., Fung, Jenny N. and Montgomery, Grant W. (2019). Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases. Clinical Epigenetics, 11 (1) 49, 49. doi: 10.1186/s13148-019-0648-7

Biomarker and genomic risk factors for liver function test abnormality in hazardous drinkers

Whitfield, John B., Zhu, Gu, Madden, Pamela A. F., Montgomery, Grant W., Heath, Andrew C. and Martin, Nicholas G. (2019). Biomarker and genomic risk factors for liver function test abnormality in hazardous drinkers. Alcoholism: Clinical and Experimental Research, 43 (3), 473-482. doi: 10.1111/acer.13949

Identification of common genetic risk variants for autism spectrum disorder

Grove, Jakob, Ripke, Stephan, Als, Thomas D., Mattheisen, Manuel, Walters, Raymond K., Won, Hyejung, Pallesen, Jonatan, Agerbo, Esben, Andreassen, Ole A., Anney, Richard, Awashti, Swapnil, Belliveau, Rich, Bettella, Francesco, Buxbaum, Joseph D., Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Marie, Cerrato, Felecia, Chambert, Kimberly, Christensen, Jane H., Churchhouse, Claire, Dellenvall, Karin, Demontis, Ditte, De Rubeis, Silvia, Devlin, Bernie, Djurovic, Srdjan, Dumont, Ashley L., Goldstein, Jacqueline I., Hansen, Christine S., Hauberg, Mads Engel ... Børglum, Anders D. (2019). Identification of common genetic risk variants for autism spectrum disorder. Nature Genetics, 51 (3), 431-444. doi: 10.1038/s41588-019-0344-8

Molecular support for heterogonesis resulting in sesquizygotic twinning

Gabbett, Michael T., Laporte, Johanna, Sekar, Renuka, Nandini, Adayapalam, McGrath, Pauline, Sapkota, Yadav, Jiang, Peiyong, Zhang, Haiqiang, Burgess, Trent, Montgomery, Grant W., Chiu, Rossa and Fisk, Nicholas M. (2019). Molecular support for heterogonesis resulting in sesquizygotic twinning. New England Journal of Medicine, 380 (9), 842-849. doi: 10.1056/nejmoa1701313

Generation of immortalized human endometrial stromal cell lines with different endometriosis risk genotypes

Holdsworth-Carson, S. J., Colgrave, E. M., Donoghue, J. F., Fung, J. N., Churchill, M. L., Mortlock, S., Paiva, P., Healey, M., Montgomery, G. W., Girling, J. E. and Rogers, P. A. W. (2019). Generation of immortalized human endometrial stromal cell lines with different endometriosis risk genotypes. MHR: Basic science of reproductive medicine, 25 (4), 194-205. doi: 10.1093/molehr/gaz006

Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Liu, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, M. Arfan, Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2019). Publisher correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 10 (1) 299, 299. doi: 10.1038/s41467-018-08078-w

Author correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Iglesias, Adriana I., Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N. Cooke, Willoughby, Colin E., Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P., Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L., Kearns, Lisa S., Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M., Taylor, Kent D., Bonnemaijer, Pieter, Rotter, Jerome I., Martin, Nicholas G., Zeller, Tanja, Mills, Richard A. ... MacGregor, Stuart (2019). Author correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature Communications, 10 (1) 155, 155. doi: 10.1038/s41467-018-07819-1

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

Morris, Andrew P., Le, Thu H., Wu, Haojia, Akbarov, Artur, van der Most, Peter J., Hemani, Gibran, Smith, George Davey, Mahajan, Anubha, Gaulton, Kyle J., Nadkarni, Girish N., Valladares-Salgado, Adan, Wacher-Rodarte, Niels, Mychaleckyj, Josyf C., Dueker, Nicole D., Guo, Xiuqing, Hai, Yang, Haessler, Jeffrey, Kamatani, Yoichiro, Stilp, Adrienne M., Zhu, Gu, Cook, James P., Ärnlöv, Johan, Blanton, Susan H., de Borst, Martin H., Bottinger, Erwin P., Buchanan, Thomas A., Cechova, Sylvia, Charchar, Fadi J., Chu, Pei-Lun ... Franceschini, Nora (2019). Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. Nature Communications, 10 (1) 29, 29. doi: 10.1038/s41467-018-07867-7

Identification of 55,000 replicated DNA methylation QTL

McRae, Allan F., Marioni, Riccardo E., Shah, Sonia, Yang, Jian, Powell, Joseph E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Bowdler, Lisa, Painter, Jodie N., Murphy, Lee, Martin, Nicholas G., Starr, John M., Wray, Naomi R., Deary, Ian J., Visscher, Peter M. and Montgomery, Grant W. (2018). Identification of 55,000 replicated DNA methylation QTL. Scientific Reports, 8 (1) 17605, 17605. doi: 10.1038/s41598-018-35871-w

Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder

Arnau-Soler, Aleix, Adams, Mark J., Hayward, Caroline, Thomson, Pippa A., Porteous, David, Campbell, Archie, Smith, Blair H., Black, Corri, Padmanabhan, Sandosh, McIntosh, Andrew, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Agerbo, Esben, Air, Tracy M., Andlauer, Till F.M., Bacanu, Silviu-Alin, Bækvad-Hansen, Marie, Beekman, Aartjan T.F., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas H.R., Bryois, Julien, Buttenschøn, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na ... Sullivan, Patrick F. (2018). Genome-wide interaction study of a proxy for stress-sensitivity and its prediction of major depressive disorder. PLoS ONE, 13 (12) e0209160, e0209160. doi: 10.1371/journal.pone.0209160

IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes

Momozawa, Yukihide, Dmitrieva, Julia, Théâtre, Emilie, Deffontaine, Valérie, Rahmouni, Souad, Charloteaux, Benoît, Crins, François, Docampo, Elisa, Elansary, Mahmoud, Gori, Ann-Stephan, Lecut, Christelle, Mariman, Rob, Mni, Myriam, Oury, Cécile, Altukhov, Ilya, Alexeev, Dmitry, Aulchenko, Yuri, Amininejad, Leila, Bouma, Gerd, Hoentjen, Frank, Löwenberg, Mark, Oldenburg, Bas, Pierik, Marieke J., Vander Meulen-De Jong, Andrea E., Van Der Woude, C. Janneke, Visschedijk, Marijn C., Lathrop, Mark, Hugot, Jean-Pierre, Weersma, Rinse K. ... Zhao, Zhen Z. (2018). IBD risk loci are enriched in multigenic regulatory modules encompassing putative causative genes. Nature Communications, 9 (1) 2427. doi: 10.1038/s41467-018-04365-8

Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

Walters, Raymond K., Polimanti, Renato, Johnson, Emma C., McClintick, Jeanette N., Adams, Mark J., Adkins, Amy E., Aliev, Fazil, Bacanu, Silviu-Alin, Batzler, Anthony, Bertelsen, Sarah, Biernacka, Joanna M., Bigdeli, Tim B., Chen, Li-Shiun, Clarke, Toni-Kim, Chou, Yi-Ling, Degenhardt, Franziska, Docherty, Anna R., Edwards, Alexis C., Fontanillas, Pierre, Foo, Jerome C., Fox, Louis, Frank, Josef, Giegling, Ina, Gordon, Scott, Hack, Laura M., Hartmann, Annette M., Hartz, Sarah M., Heilmann-Heimbach, Stefanie, Herms, Stefan ... Agrawal, Arpana (2018). Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. Nature Neuroscience, 21 (12), 1656-1669. doi: 10.1038/s41593-018-0275-1

Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways

Duffy, David L., Zhu, Gu, Li, Xin, Sanna, Marianna, Iles, Mark M., Jacobs, Leonie C., Evans, David M., Yazar, Seyhan, Beesley, Jonathan, Law, Matthew H., Kraft, Peter, Visconti, Alessia, Taylor, John C., Lui, Fan, Wright, Margaret J., Henders, Anjali K., Bowdler, Lisa, Glass, Dan, Ikram, Arfan M., Uitterlinden, André G., Madden, Pamela A., Heath, Andrew C., Nelson, Elliot C., Green, Adele C., Chanock, Stephen, Barrett, Jennifer H., Brown, Matthew A., Hayward, Nicholas K., MacGregor, Stuart ... Martin, Nicholas G. (2018). Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways. Nature Communications, 9 (1) 4774, 4774. doi: 10.1038/s41467-018-06649-5

Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders

Ligthart, Symen, Vaez, Ahmad, Võsa, Urmo, Stathopoulou, Maria G., de Vries, Paul S., Prins, Bram P., Van der Most, Peter J., Tanaka, Toshiko, Naderi, Elnaz, Rose, Lynda M., Wu, Ying, Karlsson, Robert, Barbalic, Maja, Lin, Honghuang, Pool, René, Zhu, Gu, Macé, Aurélien, Sidore, Carlo, Trompet, Stella, Mangino, Massimo, Sabater-Lleal, Maria, Kemp, John P., Abbasi, Ali, Kacprowski, Tim, Verweij, Niek, Smith, Albert V., Huang, Tao, Marzi, Carola, Feitosa, Mary F. ... Alizadeh, Behrooz Z. (2018). Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders. American Journal of Human Genetics, 103 (5), 691-706. doi: 10.1016/j.ajhg.2018.09.009

Genome-wide association meta-analysis of age at first cannabis use

Minică, Camelia C., Verweij, Karin J. H., van der Most, Peter J., Mbarek, Hamdi, Bernard, Manon, van Eijk, Kristel R., Lind, Penelope A., Liu, Meng Zhen, Maciejewski, Dominique F., Palviainen, Teemu, Sánchez-Mora, Cristina, Sherva, Richard, Taylor, Michelle, Walters, Raymond K., Abdellaoui, Abdel, Bigdeli, Timothy B., Branje, Susan J. T., Brown, Sandra A., Casas, Miguel, Corley, Robin P., Smith, George Davey, Davies, Gareth E., Ehli, Erik A., Farrer, Lindsay, Fedko, Iryna O., Garcia-Martínez, Iris, Gordon, Scott D., Hartman, Catharina A., Heath, Andrew C. ... Derks, Eske M. (2018). Genome-wide association meta-analysis of age at first cannabis use. Addiction, 113 (11), 2073-2086. doi: 10.1111/add.14368

The Anorexia Nervosa Genetics Initiative (ANGI): overview and methods

Thornton, Laura M., Munn-Chernoff, Melissa A., Baker, Jessica H., Juréus, Anders, Parker, Richard, Henders, Anjali K., Larsen, Janne T., Petersen, Liselotte, Watson, Hunna J., Yilmaz, Zeynep, Kirk, Katherine M., Gordon, Scott, Leppä, Virpi M., Martin, Felicity C., Whiteman, David C., Olsen, Catherine M., Werge, Thomas M., Pedersen, Nancy L., Kaye, Walter, Bergen, Andrew W., Halmi, Katherine A., Strober, Michael, Kaplan, Allan S., Woodside, D. Blake, Mitchell, James, Johnson, Craig L., Brandt, Harry, Crawford, Steven, Horwood, L. John ... Bulik, Cynthia M. (2018). The Anorexia Nervosa Genetics Initiative (ANGI): overview and methods. Contemporary Clinical Trials, 74, 61-69. doi: 10.1016/j.cct.2018.09.015

Complex genetics of female fertility

Gajbhiye, Rahul, Fung, Jenny N. and Montgomery, Grant W. (2018). Complex genetics of female fertility. npj Genomic Medicine, 3 (1) 29, 29. doi: 10.1038/s41525-018-0068-1

Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

de Jong, Simone, Abdalla Diniz, Mateus Jose, Saloma, Andiara, Gadelha, Ary, Santoro, Marcos L., Ota, Vanessa K., Noto, Cristiano, Curtis, Charlesg, Newhouse, Stephen J., Patel, Hamel, Hall, Lynsey S., O'Reilly, Paul F., Belangero, Sintia, Bressan, Rodrigo A., Breen, Gerome, Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till F. M., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan T. F., Bigdeli, Tim B. ... Major Depressive Disorder and Bipolar Disorder Working Groups of the Psychiatric Genomics Consortium (2018). Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder. Communications Biology, 1 (163) 163. doi: 10.1038/s42003-018-0155-y

GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia

Pasman, Joëlle A., Verweij, Karin J. H., Gerring, Zachary, Stringer, Sven, Sanchez-Roige, Sandra, Treur, Jorien L., Abdellaoui, Abdel, Nivard, Michel G., Baselmans, Bart M. L., Ong, Jue-Sheng, Ip, Hill F., van der Zee, Matthijs D., Bartels, Meike, Day, Felix R., Fontanillas, Pierre, Elson, Sarah L., de Wit, Harriet, Davis, Lea K., MacKillop, James, Derringer, Jaime L., Branje, Susan J. T., Hartman, Catharina A., Heath, Andrew C., van Lier, Pol A. C., Madden, Pamela A. F., Mägi, Reedik, Meeus, Wim, Montgomery, Grant W., Oldehinkel, A. J. ... Vink, Jacqueline M. (2018). GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia. Nature Neuroscience, 21 (9), 1161-1170. doi: 10.1038/s41593-018-0206-1

Identification of nine new susceptibility loci for endometrial cancer

O’Mara, Tracy A., Glubb, Dylan M., Amant, Frederic, Annibali, Daniela, Ashton, Katie, Attia, John, Auer, Paul L., Beckmann, Matthias W., Black, Amanda, Bolla, Manjeet K., Brauch, Hiltrud, Brenner, Hermann, Brinton, Louise, Buchanan, Daniel D., Burwinkel, Barbara, Chang-Claude, Jenny, Chanock, Stephen J., Chen, Chu, Chen, Maxine M., Cheng, Timothy H. T., Clarke, Christine L., Clendenning, Mark, Cook, Linda S., Couch, Fergus J., Cox, Angela, Crous-Bous, Marta, Czene, Kamila, Day, Felix, Dennis, Joe ... Thompson, Deborah J. (2018). Identification of nine new susceptibility loci for endometrial cancer. Nature Communications, 9 (1) 3166, 3166. doi: 10.1038/s41467-018-05427-7

Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome

Fung, Jenny N., Mortlock, Sally, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Zhu, Zhihong, Lukowski, Samuel W., McKinnon, Brett D., McRae, Allan, Yang, Jian, Healey, Martin, Powell, Joseph E., Rogers, Peter A. W. and Montgomery, Grant W (2018). Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome. Scientific Reports, 8 (1) 11424, 11424. doi: 10.1038/s41598-018-29462-y

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

MacGregor, Stuart, Ong, Jue-Sheng, An, Jiyuan, Han, Xikun, Zhou, Tiger, Siggs, Owen M., Law, Matthew H., Souzeau, Emmanuelle, Sharma, Shiwani, Lynn, David J., Beesley, Jonathan, Sheldrick, Bronwyn, Mills, Richard A., Landers, John, Ruddle, Jonathan B., Graham, Stuart L., Healey, Paul R., White, Andrew J. R., Casson, Robert J., Best, Stephen, Grigg, John R., Goldberg, Ivan, Powell, Joseph E., Whiteman, David C., Radford-Smith, Graham L., Martin, Nicholas G., Montgomery, Grant W., Burdon, Kathryn P., Mackey, David A. ... Hewitt, Alex W. (2018). Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma. Nature Genetics, 50 (8), 1067-1071. doi: 10.1038/s41588-018-0176-y

Association of current and former smoking with body mass index: a study of smoking discordant twin pairs from 21 twin cohorts

Piirtola, Maarit, Jelenkovic, Aline, Latvala, Antti, Sund, Reijo, Honda, Chika, Inui, Fujio, Watanabe, Mikio, Tomizawa, Rie, Iwatani, Yoshinori, Ordoñana, Juan R., Sánchez-Romera, Juan F., Colodro-Conde, Lucia, Tarnoki, Adam D., Tarnoki, David L., Martin, Nicholas G., Montgomery, Grant W., Medland, Sarah E., Rasmussen, Finn, Tynelius, Per, Tan, Qihua, Zhang, Dongfeng, Pang, Zengchang, Rebato, Esther, Stazi, Maria A., Fagnani, Corrado, Brescianini, Sonia, Busjahn, Andreas, Harris, Jennifer R., Brandt, Ingunn ... Silventoinen, Karri (2018). Association of current and former smoking with body mass index: a study of smoking discordant twin pairs from 21 twin cohorts. PLoS One, 13 (7) e0200140, e0200140. doi: 10.1371/journal.pone.0200140

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

Savage, Jeanne E., Jansen, Philip R., Stringer, Sven, Watanabe, Kyoko, Bryois, Julien, de Leeuw, Christiaan A., Nagel, Mats, Awasthi, Swapnil, Barr, Peter B., Coleman, Jonathan R. I., Grasby, Katrina L., Hammerschlag, Anke R., Kaminski, Jakob A., Karlsson, Robert, Krapohl, Eva, Lam, Max, Nygaard, Marianne, Reynolds, Chandra A., Trampush, Joey W., Young, Hannah, Zabaneh, Delilah, Hägg, Sara, Hansell, Narelle K., Karlsson, Ida K., Linnarsson, Sten, Montgomery, Grant W., Muñoz-Manchado, Ana B., Quinlan, Erin B., Schumann, Gunter ... Posthuma, Danielle (2018). Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence. Nature Genetics, 50 (7), 912-919. doi: 10.1038/s41588-018-0152-6

Analysis of shared heritability in common disorders of the brain

Anttila, Verneri, Bulik-Sullivan, Brendan, Finucane, Hilary K., Walters, Raymond K., Bras, Jose, Duncan, Laramie, Escott-Price, Valentina, Falcone, Guido J., Gormley, Padhraig, Malik, Rainer, Patsopoulos, Nikolaos A., Ripke, Stephan, Wei, Zhi, Yu, Dongmei, Lee, Phil H., Turley, Patrick, Grenier-Boley, Benjamin, Chouraki, Vincent, Kamatani, Yoichiro, Berr, Claudine, Letenneur, Luc, Hannequin, Didier, Amouyel, Philippe, Boland, Anne, Deleuze, Jean-Francois, Duron, Emmanuelle, Vardarajan, Badri N., Reitz, Christiane, Goate, Alison M. ... The Brainstorm Consortium (2018). Analysis of shared heritability in common disorders of the brain. Science, 360 (6395) 8757, 1313-+. doi: 10.1126/science.aap8757

Progesterone resistance in endometriosis: an acquired property?

McKinnon, Brett, Mueller, Michael and Montgomery, Grant (2018). Progesterone resistance in endometriosis: an acquired property?. Trends in Endocrinology and Metabolism, 29 (8), 535-548. doi: 10.1016/j.tem.2018.05.006

Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes

Ruderfer, Douglas M., Ripke, Stephan, McQuillin, Andrew, Boocock, James, Stahl, Eli A., Pavlides, Jennifer M. Whitehead, Mullins, Niamh, Charney, Alexander W., Ori, Anil P.S., Loohuis, Loes M. Olde, Domenici, Enrico, Di Florio, Arianna, Papiol, Sergi, Kalman, Janos L., Trubetskoy, Vassily, Adolfsson, Rolf, Agartz, Ingrid, Agerbo, Esben, Akil, Huda, Albani, Diego, Albus, Margot, Alda, Martin, Alexander, Madeline, Alliey-Rodriguez, Ney, Als, Thomas D., Amin, Farooq, Anjorin, Adebayo, Arranz, Maria J., Awasthi, Swapnil ... Kendler, Kenneth S. (2018). Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes. Cell, 173 (7), 1705-1715.e16. doi: 10.1016/j.cell.2018.05.046

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

Qi, Ting, Wu, Yang, Zeng, Jian, Zhang, Futao, Xue, Angli, Jiang, Longda, Zhu, Zhihong, Kemper, Kathryn, Yengo, Loic, Zheng, Zhili, eQTLGen Consortium, Marioni, Riccardo E., Montgomery, Grant W., Deary, Ian J., Wray, Naomi R., Visscher, Peter M., McRae, Allan F. and Yang, Jian (2018). Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood. Nature Communications, 9 (1) 2282, 2282. doi: 10.1038/s41467-018-04558-1

Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in humans

Cuellar Partida, Gabriel, Laurin, Charles, Ring, Susan M., Gaunt, Tom R., McRae, Allan, Visscher, Peter M., Montgomery, Grant W., Martin, Nicholas G., Hemani, Gibran, Suderman, Matthew, Relton, Caroline L., Davey Smith, George and Evans, David M. (2018). Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in humans. Human Molecular Genetics, 27 (16), 2927-2939. doi: 10.1093/hmg/ddy206

The association of body mass index with endometriosis and disease severity in women with pain

Holdsworth-Carson, Sarah J., Dior, Uri P., Colgrave, Eliza M., Healey, Martin, Montgomery, Grant W., Rogers, Peter A. W. and Girling, Jane E. (2018). The association of body mass index with endometriosis and disease severity in women with pain. Journal of Endometriosis and Pelvic Pain Disorders, 10 (2), 79-87. doi: 10.1177/2284026518773939

Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function

Davies, Gail, Lam, Max, Harris, Sarah E., Trampush, Joey W., Luciano, Michelle, Hill, W. David, Hagenaars, Saskia P., Ritchie, Stuart J., Marioni, Riccardo E., Fawns-Ritchie, Chloe, Liewald, David C. M., Okely, Judith A., Ahola-Olli, Ari V., Barnes, Catriona L. K., Bertram, Lars, Bis, Joshua C., Burdick, Katherine E., Christoforou, Andrea, DeRosse, Pamela, Djurovic, Srdjan, Espeseth, Thomas, Giakoumaki, Stella, Giddaluru, Sudheer, Gustavson, Daniel E., Hayward, Caroline, Hofer, Edith, Ikram, M. Arfan, Karlsson, Robert, Knowles, Emma ... Deary, Ian J. (2018). Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. Nature Communications, 9 (1) 2098, 2098. doi: 10.1038/s41467-018-04362-x

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Iglesias, Adriana I., Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N Cooke, Willoughby, Colin E., Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P., Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L., Kearns, Lisa S., Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M., Taylor, Kent D., Blue Mountains Eye Study—GWAS group, Bonnemaijer, Pieter, Rotter, Jerome I., Martin, Nicholas G., Zeller, Tanja ... MacGregor, Stuart (2018). Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature Communications, 9 (1) 1864, 1864. doi: 10.1038/s41467-018-03646-6

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Wray, Naomi R., Ripke, Stephan, Mattheisen, Manuel, Trzaskowski, Maciej, Byrne, Enda M., Abdellaoui, Abdel, Adams, Mark J., Agerbo, Esben, Air, Tracy M., Andlauer, Till M. F., Bacanu, Silviu-Alin, Baekvad-Hansen, Marie, Beekman, Aartjan F. T., Bigdeli, Tim B., Binder, Elisabeth B., Blackwood, Douglas R. H., Bryois, Julien, Buttenschon, Henriette N., Bybjerg-Grauholm, Jonas, Cai, Na, Castelao, Enrique, Christensen, Jane Hvarregaard, Clarke, Toni-Kim, Coleman, Jonathan I. R., Colodro-Conde, Lucia, Couvy-Duchesne, Baptiste, Craddock, Nick, Crawford, Gregory E., Crowley, Cheynna A. ... Sullivan, Patrick F. (2018). Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression. Nature Genetics, 50 (5), 668-+. doi: 10.1038/s41588-018-0090-3

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Rivas, Manuel A., Avila, Brandon E., Koskela, Jukka, Huang, Hailiang, Stevens, Christine, Pirinen, Matti, Haritunians, Talin, Neale, Benjamin M., Kurki, Mitja, Ganna, Andrea, Graham, Daniel, Glaser, Benjamin, Peter, Inga, Atzmon, Gil, Barzilai, Nir, Levine, Adam P., Schiff, Elena, Pontikos, Nikolas, Weisburd, Ben, Lek, Monkol, Karczewski, Konrad J., Bloom, Jonathan, Minikel, Eric V., Petersen, Britt-Sabina, Beaugerie, Laurent, Seksik, Philippe, Cosnes, Jacques, Schreiber, Stefan, Bokemeyer, Bernd ... T2D-GENES Consortium (2018). Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genetics, 14 (5) e1007329, 1-25. doi: 10.1371/journal.pgen.1007329

Signatures of negative selection in the genetic architecture of human complex traits

Zeng, Jian, de Vlaming, Ronald, Wu, Yang, Robinson, Matthew R., Lloyd-Jones, Luke R., Yengo, Loic, Yap, Chloe X., Xue, Angli, Sidorenko, Julia, McRae, Allan F., Powell, Joseph E., Montgomery, Grant W., Metspalu, Andres, Esko, Tonu, Gibson, Greg, Wray, Naomi R., Visscher, Peter M. and Yang, Jian (2018). Signatures of negative selection in the genetic architecture of human complex traits. Nature Genetics, 50 (5), 746-753. doi: 10.1038/s41588-018-0101-4

Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero

Warrington, Nicole M., Shevroja, Enisa, Hemani, Gibran, Hysi, Pirro G., Jiang, Yunxuan, Auton, Adam, Boer, Cindy G., Mangino, Massimo, Wang, Carol A., Kemp, John P., McMahon, George, Medina-Gomez, Carolina, Hickey, Martha, Trajanoska, Katerina, Wolke, Dieter, Ikram, Arfan M., 23 and Me Research Team, Montgomery, Grant W., Felix, Janine F., Wright, Margaret J., Mackey, David A., Jaddoe, Vincent W., Martin, Nicholas G., Tung, Joyce Y., Davey Smith, George, Pennell, Craig E., Spector, Tim D., van Meurs, Joyce, Rivadeneira, Fernando ... Evans, David M. (2018). Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero. Human Molecular Genetics, 27 (11), 2025-2038. doi: 10.1093/hmg/ddy121

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses

Painter, Jodie N., O'Mara, Tracy A., Morris, Andrew P., Cheng, Timothy H. T., Gorman, Maggie, Martin, Lynn, Hodson, Shirley, Jones, Angela, Martin, Nicholas G., Gordon, Scott, Henders, Anjali K, Attia, John, McEvoy, Mark, Holliday, Elizabeth G., Scott, Rodney J, Webb, Penelope M., Fasching, Peter A.., Beckmann, Matthias W, Ekici, Arif B, Hein, Alexander, Rübner, Matthias, Hall, Per, Czene, Kamila, Dörk, Thilo, Dürst, Matthias, Hillemanns, Peter, Runnebaum, Ingo, Lambrechts, Diether, Amant, Frederic ... Spurdle, Amanda B (2018). Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. Cancer Medicine, 7 (5), 1978-1987. doi: 10.1002/cam4.1445

Genome-wide average DNA methylation is determined in utero

Li, Shuai, Wong, Ee Ming, Dugué, Pierre-Antoine, McRae, Allan F., Kim, Eunae, Joo, Ji-Hoon Eric, Nguyen, Tuong L, Stone, Jennifer, Dite, Gillian S, Armstrong, Nicola J, Mather, Karen A, Thalamuthu, Anbupalam, Wright, Margaret J., Ames, David, Milne, Roger L, Craig, Jeffrey M, Saffery, Richard, Montgomery, Grant W., Song, Yun-Mi, Sung, Joohon, Spector, Timothy D, Sachdev, Perminder S, Giles, Graham G, Southey, Melissa C and Hopper, John L (2018). Genome-wide average DNA methylation is determined in utero. International Journal of Epidemiology, 47 (3), 908-916. doi: 10.1093/ije/dyy028

Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits

Wu, Yang, Zeng, Jian, Zhang, Futao, Zhu, Zhihong, Qi, Ting, Zheng, Zhili, Lloyd-Jones, Luke R., Marioni, Riccardo E., Martin, Nicholas G., Montgomery, Grant W., Deary, Ian J., Wray, Naomi R., Visscher, Peter M., McRae, Allan F. and Yang, Jian (2018). Integrative analysis of omics summary data reveals putative mechanisms underlying complex traits. Nature Communications, 9 (918) 918, 918. doi: 10.1038/s41467-018-03371-0

Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder

Mühleisen, Thomas W., Reinbold, Céline S., Forstner, Andreas J., Abramova, Lilia I., Alda, Martin, Babadjanova, Gulja, Bauer, Michael, Brennan, Paul, Chuchalin, Alexander, Cruceanu, Cristiana, Czerski, Piotr M., Degenhardt, Franziska, Fischer, Sascha B., Fullerton, Janice M., Gordon, Scott D., Grigoroiu-Serbanescu, Maria, Grof, Paul, Hauser, Joanna, Hautzinger, Martin, Herms, Stefan, Hoffmann, Per, Kammerer-Ciernioch, Jutta, Khusnutdinova, Elza, Kogevinas, Manolis, Krasnov, Valery, Lacour, André, Laprise, Catherine, Leber, Markus, Lissowska, Jolanta ... Cichon, Sven (2018). Gene set enrichment analysis and expression pattern exploration implicate an involvement of neurodevelopmental processes in bipolar disorder. Journal of Affective Disorders, 228, 20-25. doi: 10.1016/j.jad.2017.11.068

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

Gharahkhani, Puya, Burdon, Kathryn P., Cooke Bailey, Jessica N, Hewitt, Alex W., Law, Matthew H., Pasquale, Louis R., Kang, Jae H., Haines, Jonathan L., Souzeau, Emmanuelle, Zhou, Tiger, Siggs, Owen M., Landers, John, Awadalla, Mona, Sharma, Shiwani, Mills, Richard A., Ridge, Bronwyn, Lynn, David, Casson, Robert, Graham, Stuart L., Goldberg, Ivan, White, Andrew, Healey, Paul R., Grigg, John, Lawlor, Mitchell, Mitchell, Paul, Ruddle, Jonathan, Coote, Michael, Walland, Mark, Best, Stephen ... NEIGHBORHOOD consortium (2018). Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Scientific reports, 8 (1) 3124, 3124. doi: 10.1038/s41598-018-20435-9

Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

Beaumont, Robin N., Warrington, Nicole M., Cavadino, Alana, Tyrrell, Jessica, Nodzenski, Michael, Horikoshi, Momoko, Geller, Frank, Myhre, Ronny, Richmond, Rebecca C., Paternoster, Lavinia, Bradfield, Jonathan P., Kreiner-Møller, Eskil, Huikari, Ville, Metrustry, Sarah, Lunetta, Kathryn L., Painter, Jodie N., Hottenga, Jouke-Jan, Allard, Catherine, Barton, Sheila J., Espinosa, Ana, Marsh, Julie A., Potter, Catherine, Zhang, Ge, Ang, Wei, Berry, Diane J., Bouchard, Luigi, Das, Shikta, Early Growth Genetics (EGG) Consortium, Hakonarson, Hakon ... Freathy, Rachel M. (2018). Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. Human Molecular Genetics, 27 (4) ddx429, 742-756. doi: 10.1093/hmg/ddx429

Genetics of endometriosis: state of the art on genetic risk factors for endometriosis

Fung, Jenny N. and Montgomery, Grant W. (2018). Genetics of endometriosis: state of the art on genetic risk factors for endometriosis. Best Practice & Research: Clinical Obstetrics & Gynaecology, 50, 61-71. doi: 10.1016/j.bpobgyn.2018.01.012

The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders

Chang, H., Hoshina, N., Zhang, C., Ma, Y., Cao, H., Wang, Y., Wu, D. D., Bergen, S. E., Landén, M., Hultman, C. M., Preisig, M., Kutalik, Z., Castelao, E., Grigoroiu-Serbanescu, M., Forstner, A. J., Strohmaier, J., Hecker, J., Schulze, T. G., Müller-Myhsok, B., Reif, A., Mitchell, P. B., Martin, N. G., Schofield, P. R., Cichon, S., Nöthen, M. M., Walter, H., Erk, S., Heinz, A., Amin, N. ... MooDS Bipolar Consortium (2018). The protocadherin 17 gene affects cognition, personality, amygdala structure and function, synapse development and risk of major mood disorders. Molecular Psychiatry, 23 (2), 400-412. doi: 10.1038/mp.2016.231

Genome-wide DNA methylation profiling in whole blood reveals epigenetic signatures associated with migraine

Gerring, Zachary F., McRae, Allan F., Montgomery, Grant W. and Nyholt, Dale R. (2018). Genome-wide DNA methylation profiling in whole blood reveals epigenetic signatures associated with migraine. BMC Genomics, 19 (1) 69, 69. doi: 10.1186/s12864-018-4450-2

A polymorphism in the OPRM1 3'-untranslated region is associated with methadone efficacy in treating opioid dependence

Crist, R. C., Doyle, G. A., Nelson, E. C., Degenhardt, L., Martin, N. G., Montgomery, G. W., Saxon, A. J., Ling, W. and Berrettini, W. H. (2018). A polymorphism in the OPRM1 3'-untranslated region is associated with methadone efficacy in treating opioid dependence. The Pharmacogenomics Journal, 18 (1), 173-179. doi: 10.1038/tpj.2016.89

Accuracy of inferred APOE genotypes for a range of genotyping arrays and imputation reference panels

Lupton, Michelle K., Medland, Sarah E., Gordon, Scott D., Goncalves, Tabatha, MacGregor, Stuart, Mackey, David A., Young, Terri L., Duffy, David L., Visscher, Peter M., Wray, Naomi R., Nyholt, Dale R., Bain, Lisa, Ferreira, Manuel A., Henders, Anjali K., Wallace, Leanne, Montgomery, Grant W., Wright, Margaret J. and Martin, Nicholas G. (2018). Accuracy of inferred APOE genotypes for a range of genotyping arrays and imputation reference panels. Journal of Alzheimer's Disease, 64 (1), 49-54. doi: 10.3233/JAD-171104

Genetic Variation at Chromosome 2q13 and Its Potential Influence on Endometriosis Susceptibility Through Effects on the IL-1 Family

Gajbhiye, Rahul, McKinnon, Brett, Mortlock, Sally, Mueller, Michael and Montgomery, Grant (2018). Genetic Variation at Chromosome 2q13 and Its Potential Influence on Endometriosis Susceptibility Through Effects on the IL-1 Family. Reproductive Sciences, 25 (9), 1933719118768688-1317. doi: 10.1177/1933719118768688

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

Turcot, Valérie, Lu, Yingchang, Highland, Heather M., Schurmann, Claudia, Justice, Anne E., Fine, Rebecca S., Bradfield, Jonathan P., Esko, Tõnu, Giri, Ayush, Graff, Mariaelisa, Guo, Xiuqing, Hendricks, Audrey E., Karaderi, Tugce, Lempradl, Adelheid, Locke, Adam E., Mahajan, Anubha, Marouli, Eirini, Sivapalaratnam, Suthesh, Young, Kristin L., Alfred, Tamuno, Feitosa, Mary F., Masca, Nicholas G. D., Manning, Alisa K., Medina-Gomez, Carolina, Mudgal, Poorva, Ng, Maggie C. Y., Reiner, Alex P., Vedantam, Sailaja, Willems, Sara M. ... Loos, Ruth J. F. (2018). Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity. Nature Genetics, 50 (1), 26-41. doi: 10.1038/s41588-017-0011-x

The association of sonographic evidence of adenomyosis with severe endometriosis and gene expression in eutopic endometrium

Dior, Uri P., Nisbet, Debbie, Fung, Jenny N., Foster, Grant, Healey, Martin, Montgomery, Grant W., Rogers, Peter A.W., Holdsworth-Carson, Sarah J. and Girling, Jane E. (2018). The association of sonographic evidence of adenomyosis with severe endometriosis and gene expression in eutopic endometrium. Journal of Minimally Invasive Gynecology, 26 (5), 941-948. doi: 10.1016/j.jmig.2018.09.780

Intergenic disease-associated regions are abundant in novel transcripts

Bartonicek, N., Clark, M. B., Quek, X. C., Torpy, J. R., Pritchard, A. L., Maag, J. L. V., Gloss, B. S., Crawford, J., Taft, R. J., Hayward, N. K., Montgomery, G. W., Mattick, J. S., Mercer, T. R. and Dinger, M. E. (2017). Intergenic disease-associated regions are abundant in novel transcripts. Genome biology, 18 (241) 241, 241. doi: 10.1186/s13059-017-1363-3

Authors’ reply

Adams, Nicole, Gibbons, Kristen S. and Tudehope, David (2017). Authors’ reply. Australian and New Zealand Journal of Obstetrics and Gynaecology, 57 (6), E18-E18. doi: 10.1111/ajo.12740

Genome-wide association studies of a broad spectrum of antisocial behavior

Tielbeek, Jorim J., Johansson, Ada, Polderman, Tinca J.C., Rautiainen, Marja-Riitta, Jansen, Philip, Taylor, Michelle, Tong, Xiaoran, Lu, Qing, Burt, Alexandra S., Tiemeier, Henning, Viding, Essi, Plomin, Robert, Martin, Nicholas G., Heath, Andrew C., Madden, Pamela A.F., Montgomery, Grant, Beaver, Kevin M., Waldman, Irwin, Gelernter, Joel, Kranzler, Henry R., Farrer, Lindsay A., Perry, John R.B., Munafò, Marcus, LoParo, Devon, Paunio, Tiina, Tiihonen, Jari, Mous, Sabine E., Pappa, Irene, De Leeuw, Christiaan ... Broad Antisocial Behavior Consortium (2017). Genome-wide association studies of a broad spectrum of antisocial behavior. JAMA Psychiatry, 74 (12), 1242-1250. doi: 10.1001/jamapsychiatry.2017.3069

Testing two evolutionary theories of human aging with DNA methylation data

Robins, Chloe, McRae, Allan F., Powell, Joseph E., Wiener, Howard W., Aslibekyan, Stella, Kennedy, Elizabeth M., Absher, Devin M., Arnett, Donna K., Montgomery, Grant W., Visscher, Peter M., Cutler, David J. and Conneely, Karen N. (2017). Testing two evolutionary theories of human aging with DNA methylation data. Genetics, 207 (4), 1547-1560. doi: 10.1534/genetics.117.300217

Hair Cortisol in Twins: Heritability and Genetic Overlap with Psychological Variables and Stress-System Genes

Rietschel, Liz, Streit, Fabian, Zhu, Gu, McAloney, Kerrie, Frank, Josef, Couvy-Duchesne, Baptiste, Witt, Stephanie H., Binz, Tina M., Bolton, Jennifer L., Hayward, Caroline, Direk, Nese, Anderson, Anna, Huffman, Jennifer, Wilson, James F., Campbell, Harry, Rudan, Igor, Wright, Alan, Hastie, Nicholas, Wild, Sarah H., Velders, Fleur P., Hofman, Albert, Uitterlinden, Andre G., Lahti, Jari, Räikkönen, Katri, Kajantie, Eero, Widen, Elisabeth, Palotie, Aarno, Eriksson, Johan G., Kaakinen, Marika ... Rietschel, Marcella (2017). Hair Cortisol in Twins: Heritability and Genetic Overlap with Psychological Variables and Stress-System Genes. Scientific Reports, 7 (1) 15351, 15351. doi: 10.1038/s41598-017-11852-3

Genome-wide association study identifies a novel locus for cannabis dependence

Agrawal, A., Chou, Y.- L., Carey, C. E., Baranger, D. A. A., Zhang, B., Sherva, R., Wetherill, L., Kapoor, M., Wang, J.-.C., Bertelsen, S., Anokhin, A. P., Hesselbrock, V., Kramer, J., Lynskey, M. T., Meyers, J. L., Nurnberger, J. I., Rice, J. P., Tischfield, J., Bierut, L. J., Degenhardt, L., Farrer, L. A., Gelernter, J., Hariri, A. R., Heath, A. C., Kranzler, H. R., Madden, P. A. F., Martin, N. G., Montgomery, G. W., Porjesz, B. ... Nelson, E. C. (2017). Genome-wide association study identifies a novel locus for cannabis dependence. Molecular Psychiatry, 23 (5), 1293-1302. doi: 10.1038/mp.2017.200

Discovery of genetic risk factors for disease

Montgomery, Grant W. (2017). Discovery of genetic risk factors for disease. Journal of the Royal Society of New Zealand, 48 (2-3), 1-12. doi: 10.1080/03036758.2017.1392324

Genetic overlap between attention-deficit/hyperactivity disorder and bipolar disorder: evidence from genome-wide association study meta-analysis

van Hulzen, Kimm J.E., Scholz, Claus J., Franke, Barbara, Ripke, Stephan, Klein, Marieke, McQuillin, Andrew, Sonuga-Barke, Edmund J., Kelsoe, John R., Landén, Mikael, Andreassen, Ole A., Lesch, Klaus-Peter, Weber, Heike, Faraone, Stephen V., Arias-Vasquez, Alejandro, Reif, Andreas, Anney, Richard J.L., Vasquez, Alejandro Arias, Arranz, Maria J., Asherson, Philip, Banaschewski, Tobias J., Bayés, Mònica, Biederman, Joseph, Buitelaar, Jan K., Casas, Miguel, Charach, Alice, Cormand, Bru, Crosbie, Jennifer, Dalsgaard, Søren, Daly, Mark J. ... PGC Bipolar Disorder Working Group (2017). Genetic overlap between attention-deficit/hyperactivity disorder and bipolar disorder: evidence from genome-wide association study meta-analysis. Biological Psychiatry, 82 (9), 634-641. doi: 10.1016/j.biopsych.2016.08.040

Investigating the relationship between iron and depression

Mills, Natalie T., Maier, Robert, Whitfield, John B., Wright, Margaret J., Colodro-Conde, Lucia, Byrne, Enda M., Scott, James G., Byrne, Gerard J., Hansell, Narelle K., Vinkhuyzen, Anna A. E., CouvyDuchesne, Baptiste, Montgomery, Grant W., Henders, Anjali K., Martin, Nicholas G., Wray, Naomi R. and Benyamin, Beben (2017). Investigating the relationship between iron and depression. Journal of Psychiatric Research, 94, 148-155. doi: 10.1016/j.jpsychires.2017.07.006

Education in twins and their parents across birth cohorts over 100 years: an individual-level pooled analysis of 42-twin cohorts

Silventoinen, Karri, Jelenkovic, Aline, Latvala, Antti, Sund, Reijo, Yokoyama, Yoshie, Ullemar, Vilhelmina, Almqvist, Catarina, Derom, Catherine A., Vlietinck, Robert F., Loos, Ruth J. F., Kandler, Christian, Honda, Chika, Inui, Fujio, Iwatani, Yoshinori, Watanabe, Mikio, Rebato, Esther, Stazi, Maria A., Fagnani, Corrado, Brescianini, Sonia, Hur, Yoon-Mi, Jeong, Hoe-Uk, Cutler, Tessa L., Hopper, John L., Busjahn, Andreas, Saudino, Kimberly J., Ji, Fuling, Ning, Feng, Pang, Zengchang, Rose, Richard J. ... Kaprio, Jaakko (2017). Education in twins and their parents across birth cohorts over 100 years: an individual-level pooled analysis of 42-twin cohorts. Twin Research and Human Genetics, 20 (5), 395-405. doi: 10.1017/thg.2017.49

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Macé, Aurélien, Tuke, Marcus A., Deelen, Patrick, Kristiansson, Kati, Mattsson, Hannele, Nõukas, Margit, Sapkota, Yadav, Schick, Ursula, Porcu, Eleonora, Rüeger, Sina, McDaid, Aaron F., Porteous, David, Winkler, Thomas W., Salvi, Erika, Shrine, Nick, Liu, Xueping, Ang, Wei Q., Zhang, Weihua, Feitosa, Mary F., Venturini, Cristina, Van Der Most, Peter J., Rosengren, Anders, Wood, Andrew R., Beaumont, Robin N., Jones, Samuel E., Ruth, Katherine S., Yaghootkar, Hanieh, Tyrrell, Jessica, Havulinna, Aki S. ... Kutalik, Zoltán (2017). CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Nature Communications, 8 (1) 744, 744. doi: 10.1038/s41467-017-00556-x

Does childhood trauma moderate polygenic risk for depression? A meta-analysis of 5,765 subjects from the Psychiatric Genomics Consortium

Peyrot, Wouter J., Van der Auwera, Sandra, Milaneschi, Yuri, Dolan, Conor V., Madden, Pamela A. F., Sullivan, Patrick F., Strohmaier, Jana, Ripke, Stephan, Rietschel, Marcella, Nivard, Michel G., Mullins, Niamh, Montgomery, Grant W., Henders, Anjali K., Heat, Andrew C., Fisher, Helen L., Dunn, Erin C., Byrne, Enda M., Air, Tracy A., Baune, Bernhard T., Breen, Gerome, Levinson, Douglas F., Lewis, Cathryn M., Martin, Nick G., Nelson, Elliot N., Boomsma, Dorret I., Grabe, Hans J., Wray, Naomi R. and Penninx, Brenda W. J. H. (2017). Does childhood trauma moderate polygenic risk for depression? A meta-analysis of 5,765 subjects from the Psychiatric Genomics Consortium. Biological Psychiatry, 84 (2), 138-147. doi: 10.1016/j.biopsych.2017.09.009

Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood

Lukowski, Samuel W., Lloyd-Jones, Luke R., Holloway, Alexander, Kirsten, Holger, Hemani, Gibran, Yang, Jian, Small, Kerrin, Zhao, Jing, Metspalu, Andres, Dermitzakis, Emmanouil T., Gibson, Greg, Spector, Timothy D., Thiery, Joachim, Scholz, Markus, Montgomery, Grant W., Esko, Tonu, Visscher, Peter M. and Powell, Joseph E. (2017). Genetic correlations reveal the shared genetic architecture of transcription in human peripheral blood. Nature Communications, 8 (483) 483, 483. doi: 10.1038/s41467-017-00473-z

Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry

Sapkota, Yadav, De Vivo, Immaculata, Steinthorsdottir, Valgerdur, Fassbender, Amelie, Bowdler, Lisa, Buring, Julie E., Edwards, Todd L., Jones, Sarah, Dorien, O., Peterse, Danielle, Rexrode, Kathryn M., Ridker, Paul M., Schork, Andrew J., Thorleifsson, Gudmar, Wallace, Leanne M., Kraft, Peter, Morris, Andrew P., Nyholt, Dale R., Edwards, Digna R. Velez, Nyegaard, Mette, D'Hooghe, Thomas, Chasman, Daniel I., Stefansson, Kari, Missmer, Stacey A. and Montgomery, Grant W. (2017). Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry. Scientific Reports, 7 (1) 11380, 11380. doi: 10.1038/s41598-017-10440-9

Genome-Wide Association shows that pigmentation genes play a role in skin aging

Law, Matthew H., Medland, Sarah E., Zhu, Gu, Yazar, Seyhan, Vinuela, Ana, Wallace, Leanne, Shekar, Sri Niranjan, Duffy, David L., Bataille, Veronique, Glass, Dan, Spector, Tim D., Wood, Diane, MuTHER Consortium, Gordon, Scott D., Barbour, Julie M., Henders, Anjali K., Hewitt, Alex W., Montgomery, Grant W., Sturm, Richard A., Mackey, David A., Green, Adele C., Martin, Nicholas G. and MacGregor, Stuart (2017). Genome-Wide Association shows that pigmentation genes play a role in skin aging. Journal of Investigative Dermatology, 137 (9), 1887-1894. doi: 10.1016/j.jid.2017.04.026

Identification of a bipolar disorder vulnerable gene CHDH at 3p21.1

Chang, Hong, Li, Lingyi, Peng, Tao, Grigoroiu-Serbanescu, Maria, Bergen, Sarah E., Landén, Mikael, Hultman, Christina M., Forstner, Andreas J., Strohmaier, Jana, Hecker, Julian, Schulze, Thomas G., Müller-Myhsok, Bertram, Reif, Andreas, Mitchell, Philip B., Martin, Nicholas G., Cichon, Sven, Nöthen, Markus M., Jamain, Stéphane, Leboyer, Marion, Bellivier, Frank, Etain, Bruno, Kahn, Jean-Pierre, Henry, Chantal, Rietschel, Marcella, Backlund, Lena, Frisén, Louise, Lavebratt, Catharina, Schalling, Martin, Ösby, Urban ... MooDS Consortium (2017). Identification of a bipolar disorder vulnerable gene CHDH at 3p21.1. Molecular Neurobiology, 54 (7), 5166-5176. doi: 10.1007/s12035-016-0041-x

Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method

Chen, Guo-Bo, Lee, Sang Hong, Montgomery, Grant W., Wray, Naomi R., Visscher, Peter M., Gearry, Richard B., Lawrance, Ian C., Andrews, Jane M., Bampton, Peter, Mahy, Gillian, Bell, Sally, Walsh, Alissa, Connor, Susan, Sparrow, Miles, Bowdler, Lisa M., Simms, Lisa A., Krishnaprasad, Krupa, Radford-Smith, Graham L. and Moser, Gerhard (2017). Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method. BMC Medical Genetics, 18 (1) 94, 94. doi: 10.1186/s12881-017-0451-2

Constraints on eQTL fine mapping in the presence of multisite local regulation of gene expression

Zeng, Biao, Lloyd-Jones, Luke R., Holloway, Alexander, Marigorta, Urko M., Metspalu, Andres, Montgomery, Grant W., Esko, Tonu, Brigham, Kenneth L., Quyyumi, Arshed A., Idaghdour, Youssef, Yang, Jian, Visscher, Peter M., Powell, Joseph E. and Gibson, Greg (2017). Constraints on eQTL fine mapping in the presence of multisite local regulation of gene expression. G3: Genes Genomes Genetics, 7 (8), 2533-2544. doi: 10.1534/g3.117.043752

Differences in genetic and environmental variation in adult BMI by sex, age, time period, and region: an individual-based pooled analysis of 40 twin cohorts

Silventoinen, Karri, Jelenkovic, Aline, Sund, Reijo, Yokoyama, Yoshie, Hur, Yoon-Mi, Cozen, Wendy, Hwang, Amie E., Mack, Thomas M., Honda, Chika, Inui, Fujio, Iwatani, Yoshinori, Watanabe, Mikio, Tomizawa, Rie, Pietilainen, Kirsi H., Rissanen, Aila, Siribaddana, Sisira H., Hotopf, Matthew, Sumathipala, Athula, Rijsdijk, Fruhling, Tan, Qihua, Zhang, Dongfeng, Pang, Zengchang, Piirtola, Maarit, Aaltonen, Sari, Oncel, Sevgi Y., Aliev, Fazil, Rebato, Esther, Hjelmborg, Jacob B., Christensen, Kaare ... Kaprio, Jaakko (2017). Differences in genetic and environmental variation in adult BMI by sex, age, time period, and region: an individual-based pooled analysis of 40 twin cohorts. American Journal of Clinical Nutrition, 106 (2), 457-466. doi: 10.3945/ajcn.117.153643

A direct test of the diathesis–stress model for depression

Colodro-Conde, L., Couvy-Duchesne, B., Zhu, G., Coventry, W. L., Byrne, E. M., Gordon, S., Wright, M. J., Montgomery, G. W., Madden, P. A. F., Ripke, S., Eaves, L. J., Heath, A. C., Wray, N. R., Medland, S. E. and Martin, N. G. (2017). A direct test of the diathesis–stress model for depression. Molecular Psychiatry, 23 (7), 1590-1596. doi: 10.1038/mp.2017.130

No genetic overlap between circulating iron levels and Alzheimer's disease

Lupton, Michelle K., Benyamin, Beben, Proitsi, Petroula, Nyholt, Dale R., Ferreira, Manuel A., Montgomery, Grant W., Heath, Andrew C., Madden, Pamela A., Medland, Sarah E., Gordon, Scott D., Lovestone, Simon, Tsolaki, Magda, Kloszewska, Iwona, Soininen, Hilkka, Mecocci, Patrizia, Vellas, Bruno, Powell, John F., Bush, Ashley I., Wright, Margaret J., Martin, Nicholas G. and Whitfield, John B. (2017). No genetic overlap between circulating iron levels and Alzheimer's disease. Journal of Alzheimers Disease, 59 (1), 85-99. doi: 10.3233/JAD-170027

Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia.

Witt, S. H., Streit, F., Jungkunz, M., Frank, J., Awasthi, S., Reinbold, C. S., Treutlein, J., Degenhardt, F., Forstner, A. J., Heilmann-Heimbach, S., Dietl, L., Schwarze, C. E., Schendel, D., Strohmaier, J., Abdellaoui, A., Adolfsson, R., Air, T. M., Akil, H., Alda, M., Alliey-Rodriguez, N., Andreassen, O. A., Babadjanova, G., Bass, N. J., Bauer, M., Baune, B. T., Bellivier, F., Bergen, S., Bethell, A., Biernacka, J. M. ... Rietschel, M. (2017). Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia.. Translational psychiatry, 7 (6), e1155-e1155. doi: 10.1038/tp.2017.115

Genetic risk factors for endometriosis

Fung, Jenny N., Sapkota, Yadav, Nyholt, Dale R. and Montgomery, Grant W. (2017). Genetic risk factors for endometriosis. Journal of Endometriosis and Pelvic Pain Disorders, 9 (2), 69-76. doi: 10.5301/je.5000273

Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism

Sapkota, Yadav, Steinthorsdottir, Valgerdur, Morris, Andrew P., Fassbender, Amelie, Rahmioglu, Nilufer, De Vivo, Immaculata, Buring, Julie E., Zhang, Futao, Edwards, Todd L., Jones, Sarah, Dorien, O., Peterse, Danielle, Rexrode, Kathryn M., Ridker, Paul M., Schork, Andrew J., MacGregor, Stuart, Martin, Nicholas G., Becker, Christian M., Adachi, Sosuke, Yoshihara, Kosuke, Enomoto, Takayuki, Takahashi, Atsushi, Kamatani, Yoichiro, Matsuda, Koichi, Kubo, Michiaki, Thorleifsson, Gudmar, Geirsson, Reynir T., Thorsteinsdottir, Unnur, Wallace, Leanne M. ... Nyholt, Dale R. (2017). Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. Nature Communications, 8 (1) 15539, 15539. doi: 10.1038/ncomms15539

Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa

Duncan, Laramie, Yilmaz, Zeynep, Gaspar, Helena, Walters, Raymond, Goldstein, Jackie, Anttila, Verneri, Bulik-Sullivan, Brendan, Ripke, Stephan, Thornton, Laura, Hinney, Anke, Daly, Mark, Sullivan, Patrick F., Zeggini, Eleftheria, Breen, Gerome, Bulik, Cynthia M., Duncan, Laramie, Yilmaz, Zeynep, Gaspar, Héléna, Walters, Raymond, Goldstein, Jackie, Anttila, Verneri, Bulik-Sullivan, Brendan, Ripke, Stephan, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Aschauer, Harald, Baker, Jessica ... Eating Disorders Working Group of the Psychiatric Genomics Consortium (2017). Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa. American Journal of Psychiatry, 174 (9), 850-858. doi: 10.1176/appi.ajp.2017.16121402

New lessons about endometriosis - somatic mutations and disease heterogeneity

Montgomery, Grant W. and Giudice, Linda C. (2017). New lessons about endometriosis - somatic mutations and disease heterogeneity. New England Journal of Medicine, 376 (19), 1881-1882. doi: 10.1056/NEJMe1701700

Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization study

Haycock, Philip C., Burgess, Stephen, Nounu, Aayah, Zheng, Jie, Okoli, George N., Bowden, Jack, Wade, Kaitlin Hazel, Timpson, Nicholas J., Evans, David M., Willeit, Peter, Aviv, Abraham, Gaunt, Tomr., Hemani, Gibran, Mangino, Massimo, Ellis, Hayley Patricia, Kurian, Kathreena M., Pooley, Karen A., Eeles, Rosalind A., Lee, Jeffrey E., Fang, Shenying, Chen, Wei V., Law, Matthew H., Bowdler, Lisa M., Iles, Mark M., Yang, Qiong, Worrall, Bradford B., Markus, Hugh Stephen, Hung, Rayjean J., Amos, Chris I. ... Smith, George Davey (2017). Association between telomere length and risk of cancer and non-neoplastic diseases a Mendelian randomization study. JAMA Oncology, 3 (5), 636-651. doi: 10.1001/jamaoncol.2016.5945

Genomewide association study of alcohol dependence identifies risk loci altering ethanol-response behaviors in model organisms

Adkins, Amy E., Hack, Laura M., Bigdeli, Tim B., Williamson, Vernell S., McMichael, G. Omari, Mamdani, Mohammed, Edwards, Alexis C., Aliev, Fazil, Chan, Robin F., Bhandari, Poonam, Raabe, Richard C., Alaimo, Joseph T., Blackwell, GinaMari G., Moscati, Arden, Poland, Ryan S., Rood, Benjamin, Patterson, Diana G., Walsh, Dermot, Whitfield, John B., Zhu, Gu, Montgomery, Grant W., Henders, Anjali K., Martin, Nicholas G., Heath, Andrew C., Madden, Pamela A.F., Frank, Josef, Ridinger, Monika, Wodarz, Norbert, Soyka, Michael ... Mann, Karl (2017). Genomewide association study of alcohol dependence identifies risk loci altering ethanol-response behaviors in model organisms. Alcoholism: Clinical and Experimental Research, 41 (5), 911-928. doi: 10.1111/acer.13362

Does the sex of one’s co-twin affect height and BMI in adulthood? A study of dizygotic adult twins from 31 cohorts

Bogl, Leonie H., Jelenkovic, Aline, Vuoksimaa, Eero, Ahrenfeldt, Linda, Pietiläinen, Kirsi H., Stazi, Maria A., Fagnani, Corrado, D’Ippolito, Cristina, Hur, Yoon-Mi, Jeong, Hoe-Uk, Silberg, Judy L., Eaves, Lindon J., Maes, Hermine H., Bayasgalan, Gombojav, Narandalai, Danshiitsoodol, Cutler, Tessa L., Kandler, Christian, Jang, Kerry L., Christensen, Kaare, Skytthe, Axel, Kyvik, Kirsten O., Cozen, Wendy, Hwang, Amie E., Mack, Thomas M., Derom, Catherine A., Vlietinck, Robert F., Nelson, Tracy L., Whitfield, Keith E., Corley, Robin P. ... Kaprio, Jaakko (2017). Does the sex of one’s co-twin affect height and BMI in adulthood? A study of dizygotic adult twins from 31 cohorts. Biology of Sex Differences, 8 (1) 14. doi: 10.1186/s13293-017-0134-x

Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148

Fang, Jun, Jia, Jinping, Makowski, Matthew, Xu, Mai, Wang, Zhaoming, Zhang, Tongwu, Hoskins, Jason W., Choi, Jiyeon, Han, Younghun, Zhang, Mingfeng, Thomas, Janelle, Kovacs, Michael, Collins, Irene, Dzyadyk, Marta, Thompson, Abbey, O'Neill, Maura, Das, Sudipto, Lan, Qi, Koster, Roelof, Stolzenberg-Solomon, Rachael S., Kraft, Peter, Wolpin, Brian M., Jansen, Pascal W.T.C., Olson, Sara, McGlynn, Katherine A., Kanetsky, Peter A., Chatterjee, Nilanjan, Barrett, Jennifer H., Dunning, Alison M. ... Yang, Xiaohong R. (2017). Functional characterization of a multi-cancer risk locus on chr5p15.33 reveals regulation of TERT by ZNF148. Nature Communications, 8 (1) 15034, 15034. doi: 10.1038/ncomms15034

Genome-wide physical activity interactions in adiposity ― a meta-analysis of 200,452 adults

Graff, Mariaelisa, Scott, Robert A., Justice, Anne E., Young, Kristin L., Feitosa, Mary F., Barata, Llilda, Winkler, Thomas W., Chu, Audrey Y., Mahajan, Anubha, Hadley, David, Xue, Luting, Workalemahu, Tsegaselassie, Heard-Costa, Nancy L., den Hoed, Marcel, Ahluwalia, Tarunveer S., Qi, Qibin, Ngwa, Julius S., Renström, Frida, Quaye, Lydia, Eicher, John D., Hayes, James E., Cornelis, Marilyn, Kutalik, Zoltan, Lim, Elise, Luan, Jian’an, Huffman, Jennifer E., Zhang, Weihua, Zhao, Wei, Griffin, Paula J. ... Kilpeläinen, Tuomas O. (2017). Genome-wide physical activity interactions in adiposity ― a meta-analysis of 200,452 adults. PLoS Genetics, 13 (4) e1006528, e1006528. doi: 10.1371/journal.pgen.1006528

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Justice, Anne E., Winkler, Thomas W., Feitosa, Mary F., Graff, Misa, Fisher, Virginia A., Young, Kristin, Barata, Llilda, Deng, Xuan, Czajkowski, Jacek, Hadley, David, Ngwa, Julius S., Ahluwalia, Tarunveer S., Chu, Audrey Y., Heard-Costa, Nancy L., Lim, Elise, Perez, Jeremiah, Eicher, John D., Kutalik, Zolta'n, Xue, Luting, Mahajan, Anubha, Renström, Frida, Wu, Joseph, Qi, Qibin, Ahmad, Shafqat, Alfred, Tamuno, Amin, Najaf, Bielak, Lawrence F., Bonnefond, Amelie, Bragg, Jennifer ... Cupples, L. Adrienne (2017). Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. Nature Communications, 8 (1) 14977, 14977. doi: 10.1038/ncomms14977

Short telomere length is associated with impaired cognitive performance in European ancestry cohorts

Hagg, S., Zhan, Y., Karlsson, R., Gerritsen, L., Ploner, A., van der Lee, S. J., Broer, L., Deelen, J., Marioni, R. E., Wong, A., Lundquist, A., Zhu, G., Hansell, N. K., Sillanpaa, E., Fedko, I. O., Amin, N. A., Beekman, M., de Craen, A. J. M., Degerman, S., Harris, S. E., Kan, K-J, Martin-Ruiz, C. M., Montgomery, G. W., Adolfsson, A. N., Reynolds, C. A., Samani, N. J., Suchiman, H. E. D., Viljanen, A., von Zglinicki, T. ... Pedersen, N. L. (2017). Short telomere length is associated with impaired cognitive performance in European ancestry cohorts. Translational Psychiatry, 7 (4) e1100, 983-992. doi: 10.1038/tp.2017.73

Gene-based analysis of regulatory variants identifies 4 putative novel asthma risk genes related to nucleotide synthesis and signaling

Ferreira, Manuel A. R., Jansen, Rick, Willemsen, Gonneke, Penninx, Brenda, Bain, Lisa M., Vicente, Cristina T., Revez, Joana A., Matheson, Melanie C., Hui, Jennie, Tung, Joyce Y., Baltic, Svetlana, Le Souef, Peter, Montgomery, Grant W., Martin, Nicholas G., Robertson, Colin F., James, Alan, Thompson, Philip J., Boomsma, Dorret I., Hopper, John L., Hinds, David A., Werder, Rhiannon B., Phipps, Simon and and the Australian Asthma Genetics Consortium Collaborators (2017). Gene-based analysis of regulatory variants identifies 4 putative novel asthma risk genes related to nucleotide synthesis and signaling. Journal of Allergy and Clinical Immunology, 139 (4), 1148-1157. doi: 10.1016/j.jaci.2016.07.017

Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis

Uimari, Outi, Rahmioglu, Nilufer, Nyholt, Dale R., Vincent, Katy, Missmer, Stacey A., Becker, Christian, Morris, Andrew P., Montgomery, Grant W. and Zondervan, Krina T. (2017). Genome-wide genetic analyses highlight mitogen-activated protein kinase (MAPK) signaling in the pathogenesis of endometriosis. Human Reproduction, 32 (4), 780-793. doi: 10.1093/humrep/dex024

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Day, Felix R., Thompson, Deborah J., Helgason, Hannes, Chasman, Daniel I., Finucane, Hilary, Sulem, Patrick, Ruth, Katherine S., Whalen, Sean, Sarkar, Abhishek K., Albrecht, Eva, Altmaier, Elisabeth, Amini, Marzyeh, Barbieri, Caterina M., Boutin, Thibaud, Campbell, Archie, Demerath, Ellen, Giri, Ayush, He, Chunyan, Hottenga, Jouke J., Karlsson, Robert, Kolcic, Ivana, Loh, Po-Ru, Lunetta, Kathryn L., Mangino, Massimo, Marco, Brumat, McMahon, George, Medland, Sarah E., Nolte, Ilja M., Noordam, Raymond ... Perry, John R. B. (2017). Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nature Genetics, 49 (6), 834-841. doi: 10.1038/ng.3841

The genetic regulation of transcription in human endometrial tissue

Fung, Jenny N., Girling, Jane E., Lukowski, Samuel W., Sapkota, Yadav, Wallace, Leanne, Holdsworth-Carson, Sarah J., Henders, Anjali K., Healey, Martin, Rogers, Peter A. W., Powell, Joseph E. and Montgomery, Grant W. (2017). The genetic regulation of transcription in human endometrial tissue. Human Reproduction, 32 (4), 893-904. doi: 10.1093/humrep/dex006

Genetic effects influencing risk for major depressive disorder in China and Europe

Bigdeli, T. B., Ripke, S., Peterson, R. E., Trzaskowski, M., Bacanu, S-A, Abdellaoui, A., Andlauer, T. F. M., Beekman, A. T. F., Berger, K., Blackwood, D. H. R., Boomsma, D. I., Breen, G., Buttenschon, H. N., Byrne, E. M., Cichon, S., Clarke, T-K, Couvy-Duchesne, B., Craddock, N., de Geus, E. J. C., Degenhardt, F., Dunn, E. C., Edwards, A. C., Fanous, A. H., Forstner, A. J., Frank, J., Gill, M., Gordon, S. D., Grabe, H. J., Hamilton, S. P. ... Kendler, K. S. (2017). Genetic effects influencing risk for major depressive disorder in China and Europe. Translational Psychiatry, 7 (3) e1074, e1074-e1074. doi: 10.1038/tp.2016.292

Identification of shared risk loci and pathways for bipolar disorder and schizophrenia

Forstner, Andreas J., Hecker, Julian, Hofmann, Andrea, Maaser, Anna, Reinbold, Céline S., Mühleisen, Thomas W., Leber, Markus, Strohmaier, Jana, Degenhardt, Franziska, Treutlein, Jens, Mattheisen, Manuel, Schumacher, Johannes, Streit, Fabian, Meier, Sandra, Herms, Stefan, Hoffmann, Per, Lacour, André, Witt, Stephanie H., Reif, Andreas, Müller-Myhsok, Bertram, Lucae, Susanne, Maier, Wolfgang, Schwarz, Markus, Vedder, Helmut, Kammerer-Ciernioch, Jutta, Pfennig, Andrea, Bauer, Michael, Hautzinger, Martin, Moebus, Susanne ... Nöthen, Markus M. (2017). Identification of shared risk loci and pathways for bipolar disorder and schizophrenia. PLoS ONE, 12 (2) e0171595, e0171595. doi: 10.1371/journal.pone.0171595

The Genetic Architecture of Gene Expression in Peripheral Blood (vol 100, pg 228, 2017)

Lloyd-Jones, Luke R., Holloway, Alexander, McRae, Allan, Yang, Jian, Small, Kerrin, Zhao, Jing, Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Dermitzakis, Manolis, Gibson, Greg, Spector, Tim, Montgomery, Grant, Esko, Tonu, Visscher, Peter M. and Powell, Joseph E. (2017). The Genetic Architecture of Gene Expression in Peripheral Blood (vol 100, pg 228, 2017). American Journal of Human Genetics, 100 (2), 371-371. doi: 10.1016/j.ajhg.2017.01.026

Novel genetic loci associated with hippocampal volume

Hibar, Derrek P., Adams, Hieab H. H., Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L., Hofer, Edith, Renteria, Miguel E., Bis, Joshua C., Arias-Vasquez, Alejandro, Ikram, M. Kamran, Desrivieres, Sylvane, Vernooij, Meike W., Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S., Armstrong, Nicola J., Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H., Beiser, Alexa, Bernard, Manon, Blanton, Susan H., Bohlken, Marc M., Boks, Marco P., Bralten, Janita, Brickman, Adam M. ... Ikram, M. Arfan (2017). Novel genetic loci associated with hippocampal volume. Nature Communications, 8 (1) 13624, 13624. doi: 10.1038/ncomms13624

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

Springelkamp, Henriet, Iglesias, Adriana I., Mishra, Aniket, Hoehn, Rene, Wojciechowski, Robert, Khawaja, Anthony P., Nag, Abhishek, Wang, Ya Xing, Wang, Jie Jin, Cuellar-Partida, Gabriel, Gibson, Jane, Bailey, Jessica N. Cooke, Vithana, Eranga N., Gharahkhani, Puya, Boutin, Thibaud, Ramdas, Wishal D., Zeller, Tanja, Luben, Robert N., Yonova-Doing, Ekaterina, Viswanathan, Ananth C., Yazar, Seyhan, Cree, Angela J., Haines, Jonathan L., Koh, Jia Yu, Souzeau, Emmanuelle, Wilson, James F., Amin, Najaf, Mueller, Christian, Venturini, Cristina ... MacGregor, Stuart (2017). New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Human Molecular Genetics, 26 (2), 438-453. doi: 10.1093/hmg/ddw399

Genome-wide analysis of blood gene expression in migraine implicates immune-inflammatory pathways

Gerring, Zachary F., Powell, Joseph E., Montgomery, Grant W. and Nyholt, Dale R. (2017). Genome-wide analysis of blood gene expression in migraine implicates immune-inflammatory pathways. Cephalalgia, 38 (2), 292-303. doi: 10.1177/0333102416686769

The genetic architecture of gene expression in peripheral blood

Lloyd-Jones, Luke R., Holloway, Alexander, McRae, Allan, Yang, Jian, Small, Kerrin, Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Dermitzakis, Manolis, Gibson, Greg, Spector, Tim, Montgomery, Grant, Esko, Tonu, Visscher, Peter M. and Powell, Joseph E. (2017). The genetic architecture of gene expression in peripheral blood. American Journal of Human Genetics, 100 (2), 228-237. doi: 10.1016/j.ajhg.2016.12.008

Identification of novel loci affecting circulating chromogranins and related peptides

Benyamin, Beben, Maihofer, Adam X., Schork, Andrew J., Hamilton, Bruce A., Rao, Fangwen, Schmid-Schonbein, Geert W., Zhang, Kuixing, Mahata, Manjula, Stridsberg, Mats, Schork, Nicholas J., Biswas, Nilima, Hook, Vivian Y., Wei, Zhiyun, Montgomery, Grant W., Martin, Nicholas G., Nievergelt, Caroline M., Whitfield, John B. and O'Connor, Daniel T. (2017). Identification of novel loci affecting circulating chromogranins and related peptides. Human Molecular Genetics, 26 (1), 233-242. doi: 10.1093/hmg/ddw380

Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

Jelenkovic, Aline, Hur, Yoon-Mi, Sund, Reijo, Yokoyama, Yoshie, Siribaddana, Sisira H., Hotopf, Matthew, Sumathipala, Athula, Rijsdijk, Fruhling, Tan, Qihua, Zhang, Dongfeng, Pang, Zengchang, Aaltonen, Sari, Heikkilïa, Kauko, Oncel, Sevgi Y., Aliev, Fazil, Rebato, Esther, Tarnoki, Adam D., Tarnoki, David L., Christensen, Kaare, Skytthe, Axel, Kyvik, Kirsten O., Silberg, Judy L., Eaves, Lindon J., Maes, Hermine H., Cutler, Tessa L., Hopper, John L., Ordonana, Juan R., Sanchez-Romera, Juan F., Colodro-Conde, Lucia ... Silventoinen, Karri (2016). Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994. eLife, 5 (DECEMBER2016) e20320. doi: 10.7554/eLife.20320

Autosomal genetic control of human gene expression does not differ across the sexes

Kassam, Irfahan, Lloyd-Jones, Luke, Holloway, Alexander, Small, Kerrin S., Zeng, Biao, Bakshi, Andrew, Metspalu, Andres, Gibson, Greg, Spector, Tim D., Esko, Tonu, Montgomery, Grant W., Powell, Joseph E., Yang, Jian, Visscher, Peter M. and McRae, Allan F. (2016). Autosomal genetic control of human gene expression does not differ across the sexes. Genome Biology, 17 (1) 248, 248.1-248.10. doi: 10.1186/s13059-016-1111-0

GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration

Riaz, Moeen, Lorés-Motta, Laura, Richardson, Andrea J., Lu, Yi, Montgomery, Grant, Omar, Amer, Koenekoop, Robert K., Chen, John, Muether, Philipp, Altay, Lebriz, Schick, Tina, Fauser, Sascha, Smailhodzic, Dzenita, Van Asten, Freekje, De Jong, Eiko K., Hoyng, Carel B., Burdon, Kathryn P., MacGregor, Stuart, Guymer, Robyn H., Den Hollander, Anneke I. and Baird, Paul N. (2016). GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration. Scientific Reports, 6 (1) 37924. doi: 10.1038/srep37924

Pooled genome wide association detects association upstream of FCRL3 with Graves' disease

Khong, Jwu Jin, Burdon, Kathryn P., Lu, Yi, Laurie, Kate, Leonardos, Lefta, Baird, Paul N., Sahebjada, Srujana, Walsh, John P., Gajdatsy, Adam, Ebeling, Peter R., Hamblin, Peter Shane, Wong, Rosemary, Forehan, Simon P., Fourlanos, Spiros, Roberts, Anthony P., Doogue, Matthew, Selva, Dinesh, Montgomery, Grant W., Macgregor, Stuart and Craig, Jamie E. (2016). Pooled genome wide association detects association upstream of FCRL3 with Graves' disease. BMC Genomics, 17 (1) 939. doi: 10.1186/s12864-016-3276-z

Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339

Powell, Joseph E., Fung, Jenny N., Shakhbazov, Konstantin, Sapkota, Yadav, Cloonan, Nicole, Hemani, Gibran, Hillman, Kristine M., Kaufmann, Susanne, Luong, Hien T., Bowdler, Lisa, Painter, Jodie N., Holdsworth-Carson, Sarah J., Visscher, Peter M., Dinger, Marcel E., Healey, Martin, Nyholt, Dale R., French, Juliet D., Edwards, Stacey L., Rogers, Peter A. W. and Montgomery, Grant W. (2016). Endometriosis risk alleles at 1p36.12 act through inverse regulation of CDC42 and LINC00339. Human Molecular Genetics, 25 (22), 5046-5058. doi: 10.1093/hmg/ddw320

Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis

Zhou, Yuan, Zhu, Gu, Charlesworth, Jac C., Simpson, Steve, Rubicz, Rohina, Göring, Harald H.H., Patsopoulos, Nikolaos A., Laverty, Caroline, Wu, Feitong, Henders, Anjali, Ellis, Jonathan J., Van Der Mei, Ingrid, Montgomery, Grant W., Blangero, John, Curran, Joanne E., Johnson, Matthew P., Martin, Nicholas G., Nyholt, Dale R. and Taylor, Bruce V. (2016). Genetic loci for Epstein-Barr virus nuclear antigen-1 are associated with risk of multiple sclerosis. Multiple Sclerosis, 22 (13), 1655-1664. doi: 10.1177/1352458515626598

Genome-wide analysis identifies 12 loci influencing human reproductive behavior

Barban, Nicola, Jansen, Rick, de Vlaming, Ronald, Vaez, Ahmad, Mandemakers, Jornt J., Tropf, Felix C., Shen, Xia, Wilson, James F., Chasman, Daniel I., Nolte, Illa M., Tragante, Vinicius, van der Laan, Sander W., Perry, John R. B., Kong, Augustine, Ahluwalia, Tarunveer S., Albrecht, Eva, Yerges-Armstrong, Laura, Atzmon, Gil, Auro, Kirsi, Ayers, Kristin, Bakshi, Andrew, Ben-Avraham, Danny, Berger, Klaus, Bergman, Aviv, Bertram, Lars, Bielak, Lawrence F., Bjornsdottir, Gyda, Bonder, Marc Jan, Broer, Linda ... Mills, Melinda C. (2016). Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nature Genetics, 48 (12), 1462-1472. doi: 10.1038/ng.3698

Evidence for mitochondrial genetic control of autosomal gene expression

Kassam, Irfahan, Qi, Tuan, Lloyd-Jones, Luke, Holloway, Alexander, Bonder, Marc Jan, Henders, Anjali K., Martin, Nicholas G., Powell, Joseph E., Franke, Lude, Montgomery, Grant W., Visscher, Peter M. and McRae, Allan F. (2016). Evidence for mitochondrial genetic control of autosomal gene expression. Human Molecular Genetics, 25 (24), 5332-5338. doi: 10.1093/hmg/ddw347

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Adams, Hieab H. H., Hibar, Derrek P., Chouraki, Vincent, Stein, Jason L., Nyquist, Paul A., Renteria, Miguel E., Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivieres, Sylvane, Beecham, Ashley H., Jahanshad, Neda, Wittfeld, Katharina, Van der Lee, Sven J., Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S., Armstrong, Nicola J., Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C., Blanken, Laura M. E., Blanton, SusanH., Bohlken, Marc M. ... Thompson, Paul M. (2016). Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nature Neuroscience, 19 (12), 1569-1582. doi: 10.1038/nn.4398

Genetic variants in RBFOX3 are associated with sleep latency

Amin, Najaf, Allebrandt, Karla V., van der Spek, Ashley, Müller-Myhsok, Bertram, Hek, Karin, Teder-Laving, Maris, Hayward, Caroline, Esko, Tõnu, van Mill, Josine G., Mbarek, Hamdi, Watson, Nathaniel F., Melville, Scott A., Del Greco, Fabiola M., Byrne, Enda M., Oole, Edwin, Kolcic, Ivana, Chen, Ting-hsu, Evans, Daniel S., Coresh, Josef, Vogelzangs, Nicole, Karjalainen, Juha, Willemsen, Gonneke, Gharib, Sina A., Zgaga, Lina, Mihailov, Evelin, Stone, Katie L., Campbell, Harry, Brouwer, Rutger W. W., Demirkan, Ayse ... van Duijn, Cornelia M. (2016). Genetic variants in RBFOX3 are associated with sleep latency. European Journal of Human Genetics, 24 (10), 1488-1495. doi: 10.1038/ejhg.2016.31

Meta-analysis of genome-wide association studies of anxiety disorders

Otowa, T., Hek, K., Lee, M., Byrne, E. M., Mirza, S. S., Nivard, M. G., Bigdeli, T., Aggen, S. H., Adkins, D., Wolen, A., Fanous, A., Keller, M. C., Castelao, E., Kutalik, Z., Der Auwera, S. V., Homuth, G., Nauck, M., Teumer, A., Milaneschi, Y., Hottenga, J. -J., Direk, N., Hofman, A., Uitterlinden, A., Mulder, C. L., Henders, A. K., Medland, S. E., Gordon, S., Heath, A. C., Madden, P. A. F. ... Hettema, J. M. (2016). Meta-analysis of genome-wide association studies of anxiety disorders. Molecular Psychiatry, 21 (10), 1391-1399. doi: 10.1038/mp.2015.197

Genome-wide association study of working memory brain activation

Blokland, Gabriella A. M., Wallace, Angus K., Hansell, Narelle K., Thompson, Paul M., Hickie, Ian B., Montgomery, Grant W., Martin, Nicholas G., McMahon, Katie L., de Zubicaray, Greig I. and Wright, Margaret J. (2016). Genome-wide association study of working memory brain activation. International Journal of Psychophysiology, 115, 98-111. doi: 10.1016/j.ijpsycho.2016.09.010

The association of genetic predisposition to depressive symptoms with non-suicidal and suicidal self-injuries

Maciejewski, Dominique F., Renteria, Miguel E., Abdellaoui, Abdel, Medland, Sarah E., Few, Lauren R., Gordon, Scott D., Madden, Pamela A. F., Montgomery, Grant, Trull, Timothy J., Heath, Andrew C., Statham, Dixie J., Martin, Nicholas G., Zietsch, Brendan P. and Verweij, Karin J. H. (2016). The association of genetic predisposition to depressive symptoms with non-suicidal and suicidal self-injuries. Behavior Genetics, 47 (1), 1-8. doi: 10.1007/s10519-016-9809-z

Trans-ethnic fine mapping highlights kidney-function genes linked to salt sensitivity

Mahajan, Anubha, Rodan, Aylin R., Le, Thu H., Gaulton, Kyle J., Haessler, Jeffrey, Stilp, Adrienne M., Kamatani, Yoichiro, Zhu, Gu, Sofer, Tamar, Puri, Sanjana, Schellinger, Jeffrey N., Chu, Pei-Lun, Cechova, Sylvia, van Zuydam, Natalie, Arnlov, Johan, Flessner, Michael F., Giedraitis, Vilmantas, Heath, Andrew C., Kubo, Michiaki, Larsson, Anders, Lindgren, Cecilia M., Madden, Pamela A.F., Montgomery, Grant W., Papanicolaou, George J., Reiner, Alex P., Sundström, Johan, Thornton, Timothy A., Lind, Lars, Ingelsson, Erik ... Franceschini, Nora (2016). Trans-ethnic fine mapping highlights kidney-function genes linked to salt sensitivity. American Journal of Human Genetics, 99 (3), 636-646. doi: 10.1016/j.ajhg.2016.07.012

An analysis of two genome-wide association meta-analyses identifies a new locus for broad depression phenotype

Direk, Nese, Williams, Stephanie, Smith, Jennifer A., Ripke, Stephan, Air, Tracy, Amare, Azmeraw T., Amin, Najaf, Baune, Bernhard T., Bennett, David A., Blackwood, Douglas H. R., Boomsma, Dorret, Breen, Gerome, Buttenschon, Henriette N., Byrne, Enda M., Borglum, Anders D., Castelao, Enrique, Cichon, Sven, Clarke, Toni-Kim, Cornelis, Marilyn C., Dannlowski, Udo, De Jager, Philip L., Demirkan, Ayse, Domenici, Enrico, van Duijn, Cornelia M., Dunn, Erin C., Eriksson, Johan G., Esko, Tonu, Faul, Jessica D., Ferrucci, Luigi ... Sullivan, Patrick F. (2016). An analysis of two genome-wide association meta-analyses identifies a new locus for broad depression phenotype. Biological Psychiatry, 82 (5), 322-329. doi: 10.1016/j.biopsych.2016.11.013

Genetic and environmental effects on body mass index from infancy to the onset of adulthood: an individual-based pooled analysis of 45 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) study

Silventoinen, Karri, Jelenkovic, Aline, Sund, Reijo, Hur, Yoon-Mi, Yokoyama, Yoshie, Honda, Chika, Hjelmborg, Jacob B., Moller, Soren, Ooki, Syuichi, Aaltonen, Sari, Ji, Fuling, Ning, Feng, Pang, Zengchang, Rebato, Esther, Busjahn, Andreas, Kandler, Christian, Saudino, Kimberly J., Jang, Kerry L., Cozen, Wendy, Hwang, Amie E., MacK, Thomas M., Gao, Wenjing, Yu, Canqing, Li, Liming, Corley, Robin P., Huibregtse, Brooke M., Christensen, Kaare, Skytthe, Axel, Kyvik, Kirsten O. ... Kaprio, Jaakko (2016). Genetic and environmental effects on body mass index from infancy to the onset of adulthood: an individual-based pooled analysis of 45 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODATwins) study. American Journal of Clinical Nutrition, 104 (2), 371-379. doi: 10.3945/ajcn.116.130252

Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

Gormley, Padhraig, Anttila, Verneri, Winsvold, Bendik S., Palta, Priit, Esko, Tonu, Pers, Tune H., Farh, Kai-How, Cuenca-Leon, Ester, Muona, Mikko, Furlotte, Nicholas A., Kurth, Tobias, Ingason, Andres, McMahon, George, Ligthart, Lannie, Terwindt, Gisela M., Kallela, Mikko, Freilinger, Tobias M., Ran, Caroline, Gordon, Scott G., Stam, Anine H., Steinberg, Stacy, Borck, Guntram, Koiranen, Markku, Quaye, Lydia, Adams, Hieab H. H., Lehtimäki, Terho, Sarin, Antti-Pekka, Wedenoja, Juho, Hinds, David A. ... Palotie, Aarno (2016). Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nature Genetics, 48 (8), 856-866. doi: 10.1038/ng.3598

Beyond endometriosis genome-wide association study: from genomics to phenomics to the patient

Zondervan, Krina T., Rahmioglu, Nilufer, Morris, Andrew P., Nyholt, Dale R., Montgomery, Grant W., Becker, Christian M. and Missmer, Stacey A. (2016). Beyond endometriosis genome-wide association study: from genomics to phenomics to the patient. Seminars in Reproductive Medicine, 34 (4), 242-254. doi: 10.1055/s-0036-1585408

Genetic and environmental influences on height from infancy to early adulthood: An individual-based pooled analysis of 45 twin cohorts

Jelenkovic, Aline, Sund, Reijo, Hur, Yoon-Mi, Yokoyama, Yoshie, Hjelmborg, Jacob V. B., Miller, Soren, Honda, Chika, Magnusson, Patrik K. E., Pedersen, Nancy L., Ooki, Syuichi, Aaltonen, Sari, Stazi, Maria A., Fagnani, Corrado, D'Ippolito, Cristina, Freitas, Duarte L., Maia, Jose Antonio, Ji, Fuling, Ning, Feng, Pang, Zengchang, Rebato, Esther, Busjahn, Andreas, Kandler, Christian, Saudino, Kimberly J., Jang, Kerry L., Cozen, Wendy, Hwang, Amie E., Mack, Thomas M., Gao, Wenjing, Yu, Canqing ... Silventoinen, Karri (2016). Genetic and environmental influences on height from infancy to early adulthood: An individual-based pooled analysis of 45 twin cohorts. Scientific Reports, 6 (1) 28496. doi: 10.1038/srep28496

Association of polymorphisms in MACRO domain containing 2 with thyroid-associated orbitopathy

Khong, Jwu Jin, Burdon, Kathryn P., Lu, Yi, Leonardos, Lefta, Laurie, Kate J., Walsh, John P., Gajdatsy, Adam D., Ebeling, Peter R., McNab, Alan A., Hardy, Thomas G., Stawell, Richard J., Davis, Garry J., Selva, Dinesh, Tsirbas, Angelo, Montgomery, Grant W., Macgregor, Stuart and Craig, Jamie E. (2016). Association of polymorphisms in MACRO domain containing 2 with thyroid-associated orbitopathy. Investigative Ophthalmology and Visual Science, 57 (7), 3129-3137. doi: 10.1167/iovs.15-18797

Blood gene expression studies in migraine: potential and caveats

Gerring, Zachary, Rodriguez-Acevedo, Astrid J., Powell, Joseph E., Griffiths, Lyn R., Montgomery, Grant W. and Nyholt, Dale R. (2016). Blood gene expression studies in migraine: potential and caveats. Cephalalgia, 36 (7), 669-678. doi: 10.1177/0333102416628463

Erratum: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (PLoS Genet (2015) 11:10 (e1005378) DOI: 10.1371/journal.pgen.1005378)

Winkler, Thomas W., Justice, Anne E., Graff, Mariaelisa, Barata, Llilda, Feitosa, Mary F., Chu, Su, Czajkowski, Jacek, Esko, Tõnu, Fall, Tove, Kilpeläinen, Tuomas O., Lu, Yingchang, Mägi, Reedik, Mihailov, Evelin, Pers, Tune H., Rüeger, Sina, Teumer, Alexander, Ehret, Georg B., Ferreira, Teresa, Heard-Costa, Nancy L., Karjalainen, Juha, Lagou, Vasiliki, Mahajan, Anubha, Neinast, Michael D., Prokopenko, Inga, Simino, Jeannette, Teslovich, Tanya M., Jansen, Rick, Westra, Harm-Jan, White, Charles C. ... Loos, Ruth J.F. (2016). Erratum: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study (PLoS Genet (2015) 11:10 (e1005378) DOI: 10.1371/journal.pgen.1005378). PLoS Genetics, 12 (6) e1006166. doi: 10.1371/JOURNAL.PGEN.1006166

Five endometrial cancer risk loci identified through genome-wide association analysis

Cheng, Timothy H. T., Thompson, Deborah J., O'Mara, Tracy A., Painter, Jodie N., Glubb, Dylan M., Flach, Susanne, Lewis, Annabelle, French, Juliet D., Freeman-Mills, Luke, Church, David, Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Webb, Penelope M., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W., Nyholt, Dale R., Ahmed, Shahana, Healey, Catherine S., Shah, Mitul, Dennis, Joe, Fasching, Peter A., Beckmann, Matthias W., Hein, Alexander ... Spurdle, Amanda B. (2016). Five endometrial cancer risk loci identified through genome-wide association analysis. Nature Genetics, 48 (6), 667-674. doi: 10.1038/ng.3562

Gene-based pleiotropy across migraine with aura and migraine without aura patient groups

Zhao, Huiying, Eising, Else, De Vries, Boukje, Vijfhuizen, Lisanne S., Anttila, Verneri, Winsvold, Bendik S., Kurth, Tobias, Stefansson, Hreinn, Kallela, Mikko, Malik, Rainer, Stam, Anine H., Arfan Ikram, M., Ligthart, Lannie, Freilinger, Tobias, Alexander, Michael, Müller-Myhsok, Bertram, Schreiber, Stefan, Meitinger, Thomas, Aromas, Arpo, Eriksson, Johan G., Boomsma, Dorret I., Van Duijn, Cornelia M., Zwart, John-Anker, Quaye, Lydia, Kubisch, Christian, Dichgans, Martin, Wessman, Maija, Stefansson, Kari, Chasman, Daniel I. ... Nyholt, Dale R. (2016). Gene-based pleiotropy across migraine with aura and migraine without aura patient groups. Cephalalgia, 36 (7), 648-657. doi: 10.1177/0333102415591497

Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

Okbay, Aysu, Baselmans, Bart M. L., De Neve, Jan-Emmanuel, Turley, Patrick, Nivard, Michel G., Fontana, Mark Alan, Meddens, S. Fleur W., Linner, Richard Karlsson, Rietveld, Cornelius A., Derringer, Jaime, Gratten, Jacob, Lee, James J., Liu, Jimmy Z., de Vlaming, Ronald, Ahluwalia, Tarunveer S., Buchwald, Jadwiga, Cavadino, Alana, Frazier-Wood, Alexis C., Furlotte, Nicholas A., Garfield, Victoria, Geisel, Marie Henrike, Gonzalez, Juan R., Haitjema, Saskia, Karlsson, Robert, van der Laan, Sander W., Ladwig, Karl-Heinz, Lahti, Jari, van der Lee, Sven J., Lind, Penelope A. ... Cesarini, David (2016). Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses. Nature Genetics, 48 (6), 624-633. doi: 10.1038/ng.3552

International genome-wide association study consortium identifies novel loci associated with blood pressure in children and adolescents

Parmar, Priyakumari Ganesh, Taal, H. Rob, Timpson, Nicholas J., Thiering, Elisabeth, Lehtimaki, Terho, Marinelli, Marcella, Lind, Penelope A., Howe, Laura D., Verwoert, Germaine, Aalto, Ville, Uitterlinden, Andre G., Briollais, Laurent, Evans, Dave M., Wright, Margie J., Newnham, John P., Whitfield, John B., Lyytikainen, Leo-Pekka, Rivadeneira, Fernando, Boomsma, Dorrett I., Viikari, Jorma, Gillman, Matthew W., St Pourcain, Beate, Hottenga, Jouke-Jan, Montgomery, Grant W., Hofman, Albert, Kahonen, Mika, Martin, Nicholas G., Tobin, Martin D., Raitakari, Ollie ... Palmer, Lyle J. (2016). International genome-wide association study consortium identifies novel loci associated with blood pressure in children and adolescents. Circulation: Cardiovascular Genetics, 9 (3), 266-278. doi: 10.1161/CIRCGENETICS.115.001190

Genome-wide association for major depression through age at onset stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium

Power, Robert A., Tansey, Katherine E., Buttenschøn, Henriette Nørmølle, Cohen-Woods, Sarah, Bigdeli, Tim, Hall, Lynsey S., Kutalik, Zoltán, Lee, S. Hong, Ripke, Stephan, Steinberg, Stacy, Teumer, Alexander, Viktorin, Alexander, Wray, Naomi R., Arolt, Volker, Baune, Bernard T., Boomsma, Dorret I., Børglum, Anders D., Byrne, Enda M., Castelao, Enrique, Craddock, Nick, Craig, Ian, Dannlowski, Udo, Deary, Ian J., Degenhardt, Franziska, Forstner, Andreas J., Gordon, Scott D., Grabe, Hans J., Grove, Jakob, Hamilton, Steven P. ... Lewis, Cathryn M. (2016). Genome-wide association for major depression through age at onset stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium. Biological Psychiatry, 81 (4), 325-335. doi: 10.1016/j.biopsych.2016.05.010

Genome-wide association study identifies 74 loci associated with educational attainment

Okbay, Aysu, Beauchamp, Jonathan P., Fontana, Mark Alan, Lee, James J., Pers, Tune H., Rietveld, Cornelius A., Turley, Patrick, Chen, Guo-Bo, Emilsson, Valur, Meddens, S. Fleur W., Oskarsson, Sven, Pickrell, Joseph K., Thom, Kevin, Timshel, Pascal, de Vlaming, Ronald, Abdellaoui, Abdel, Ahluwalia, Tarunveer S., Bacelis, Jonas, Baumbach, Clemens, Bjornsdottir, Gyda, Brandsma, Johannes H., Concas, Maria Pina, Derringer, Jaime, Furlotte, Nicholas A., Galesloot, Tessel E., Girotto, Giorgia, Gupta, Richa, Hall, Leanne M., Harris, Sarah E. ... Benjamin, Daniel J. (2016). Genome-wide association study identifies 74 loci associated with educational attainment. Nature, 533 (7604), 539-542. doi: 10.1038/nature17671

Identification of common genetic variants influencing spontaneous dizygotic twinning and female fertility

Mbarek, Hamdi, Steinberg, Stacy, Nyholt, Dale R., Gordon, Scott D., Miller, Michael B., McRae, Allan F, Hottenga, Jouke Jan, Day, Felix R., Willemsen, Gonneke, de Geus, Eco J., Davies, Gareth E, Martin, Hilary C, Penninx, Brenda W, Jansen, Rick, McAloney, Kerrie, Vink, Jacqueline M., Kaprio, Jaakko, Plomin, Robert, Spector, Tim D., Magnusson, Patrik K., Reversade, Bruno, Harris, R. Alan, Aagaard, Kjersti, Kristjansson, Ragnar P., Olafsson, Isleifur, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Iacono, William G., Lambalk, Cornelis B ... Boomsman, Dorret I. (2016). Identification of common genetic variants influencing spontaneous dizygotic twinning and female fertility. American Journal of Human Genetics, 98 (5), 898-908. doi: 10.1016/j.ajhg.2016.03.008

Endometrial vezatin and its association with endometriosis risk

Holdsworth-Carson, Sarah J., Fung, Jenny N., Luong, Hien T. T., Sapkota, Yadav, Bowdler, Lisa M., Wallace, Leanne, Teh, Wan Tinn, Powell, Joseph E., Girling, Jane E., Healey, Martin, Montgomery, Grant W. and Rogers, Peter A. W. (2016). Endometrial vezatin and its association with endometriosis risk. Human Reproduction, 31 (5), 999-1013. doi: 10.1093/humrep/dew047

Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets

Zhu, Zhihong, Zhang, Futao, Hu, Han, Bakshi, Andrew, Robinson, Matthew R., Powell, Joseph E., Montgomery,Grant W., Goddard, Michael E., Wray, Naomi R., Visscher, Peter M. and Yang, Jian (2016). Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. Nature Genetics, 48 (5), 481-487. doi: 10.1038/ng.3538

Vitamin D pathway gene polymorphisms and keratinocyte cancers: a nested case-control study and meta-analysis

Von Schuckmann, Lena A., Law, Matthew H., Montgomery, Grant W., Green, Adele C. and van der Pols, Jolieke C. (2016). Vitamin D pathway gene polymorphisms and keratinocyte cancers: a nested case-control study and meta-analysis. Anticancer Research, 36 (5), 2145-2152.

Increased incidence of bladder cancer, lymphoid leukaemia, and myeloma in a cohort of Queensland melanoma families

Read, Jazlyn, Symmons, Judith, Palmer, Jane M., Montgomery, Grant W., Martin, Nicholas G. and Hayward, Nicholas K. (2016). Increased incidence of bladder cancer, lymphoid leukaemia, and myeloma in a cohort of Queensland melanoma families. Familial Cancer, 15 (4), 651-663. doi: 10.1007/s10689-016-9907-3

Shared genetic control of expression and methylation in peripheral blood

Shakhbazov, Konstantin, Powell, Joseph E., Hemani, Gibran, Henders, Anjali K., Martin, Nicholas G., Visscher, Peter M., Montgomery, Grant W. and McRae, Allan F. (2016). Shared genetic control of expression and methylation in peripheral blood. BMC Genomics, 17 (1) 278, 278. doi: 10.1186/s12864-016-2498-4

Common genetic variants influence whorls in fingerprint patterns

Ho, Yvonne Y. W., Evans, David M., Montgomery, Grant W., Henders, Anjali K., Kemp, John P., Timpson, Nicholas J., Pourcain, Beate St., Heath, Andrew C., Madden, Pamela A. F., Loesch, Danuta Z., McNevin, Dennis, Daniel, Runa, Davey-Smith, George, Martin, Nicholas G. and Medland, Sarah E. (2016). Common genetic variants influence whorls in fingerprint patterns. Journal of Investigative Dermatology, 136 (4), 859-862. doi: 10.1016/j.jid.2015.10.062

The effect of increased genetic risk for Alzheimer's disease on hippocampal and amygdala volume

Lupton, Michelle K., Strike, Lachlan, Hansell, Narelle K., Wen, Wei, Mather, Karen A., Armstrong, Nicola J., Thalamuthu, Anbupalam, McMahon, Katie L., de Zubicaray, Greig I., Assareh, Amelia A., Simmons, Andrew, Proitsi, Petroula, Powell, John F., Montgomery, Grant W., Hibar, Derrek P., Westman, Eric, Tsolaki, Magda, Kloszewska, Iwona, Soininen, Hilkka, Mecocci, Patrizia, Velas, Bruno, Lovestone, Simon, Brodaty, Henry, Ames, David, Trollor, Julian N., Martin, Nicholas G., Thompson, Paul M., Sachdev, Perminder S. and Wright, Margaret J. (2016). The effect of increased genetic risk for Alzheimer's disease on hippocampal and amygdala volume. Neurobiology of Aging, 40, 68-77. doi: 10.1016/j.neurobiolaging.2015.12.023

Twin's Birth-Order Differences in Height and Body Mass Index From Birth to Old Age: A Pooled Study of 26 Twin Cohorts Participating in the CODATwins Project

Yokoyama, Yoshie, Jelenkovic, Aline, Sund, Reijo, Sung, Joohon, Hopper, John L., Ooki, Syuichi, Heikkila, Kauko, Aaltonen, Sari, Tarnoki, Adam D., Tarnoki, David L., Willemsen, Gonneke, Bartels, Meike, van Beijsterveldt, Toos C. E. M., Saudino, Kimberly J., Cutler, Tessa L., Nelson, Tracy L., Whitfield, Keith E., Wardle, Jane, Llewellyn, Clare H., Fisher, Abigail, He, Mingguang, Ding, Xiaohu, Bjerregaard-Andersen, Morten, Beck-Nielsen, Henning, Sodemann, Morten, Song, Yun-Mi, Yang, Sarah, Lee, Kayoung, Jeong, Hoe-Uk ... Silventoinen, Karri (2016). Twin's Birth-Order Differences in Height and Body Mass Index From Birth to Old Age: A Pooled Study of 26 Twin Cohorts Participating in the CODATwins Project. Twin Research and Human Genetics, 19 (2), 112-124. doi: 10.1017/thg.2016.11

Genome-wide polygenic scores for age at onset of alcohol dependence and association with alcohol-related measures

Kapoor, M., Chou, Y-L, Edenberg, H. J., Foroud, T., Martin, N. G., Madden, P A F, Wang, J. C., Bertelsen, S., Wetherill, L., Brooks, A., Chan, G., Hesselbrock, V., Kuperman, S., Medland, S. E., Montgomery, G., Tischfield, J., Whitfield, J. B., Bierut, L. J., Heath, A. C., Bucholz, K. K., Goate, A. M. and Agrawal, A. (2016). Genome-wide polygenic scores for age at onset of alcohol dependence and association with alcohol-related measures. Translational Psychiatry, 6 (3) e761, e761-e761. doi: 10.1038/tp.2016.27

Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts

Schwantes-An, Tae-Hwi, Zhang, Juan, Chen, Li-Shiun, Hartz, Sarah M., Culverhouse, Robert C., Chen, Xiangning, Coon, Hilary, Frank, Josef, Kamens, Helen M., Konte, Bettina, Kovanen, Leena, Latvala, Antti, Legrand, Lisa N., Maher, Brion S., Melroy, Whitney E., Nelson, Elliot C., Reid, Mark W., Robinson, Jason D., Shen, Pei-Hong, Yang, Bao-Zhu, Andrews, Judy A., Aveyard, Paul, Beltcheva, Olga, Brown, Sandra A., Cannon, Dale S., Cichon, Sven, Corley, Robin P., Dahmen, Norbert, Degenhardt, Louisa ... Saccone, Nancy L. (2016). Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of European-Ancestry Cohorts. Behavior Genetics, 46 (2), 151-169. doi: 10.1007/s10519-015-9737-3

Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population

Clarke, T-K, Lupton, M. K., Fernandez-Pujals, A. M., Starr, J., Davies, G., Cox, S., Pattie, A., Liewald, D. C., Hall, L. S., MacIntyre, D. J., Smith, B. H., Hocking, L. J., Padmanabhan, S., Thomson, P. A., Hayward, C., Hansell, N. K., Montgomery, G. W., Medland, S. E., Martin, N. G., Wright, M. J., Porteous, D. J., Deary, I. J. and McIntosh, A. M. (2016). Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population. Molecular Psychiatry, 21 (3), 419-425. doi: 10.1038/mp.2015.12

Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium

Stringer, S., Minică, C. C., Verweij, K. J. H., Mbarek, H., Bernard, M., Derringer, J., van Eijk, K. R., Isen, J. D., Loukola, A., Maciejewsk, D. F., Mihailov, E., van der Most, P. J., Sánchez-Mora, C., Roos, L., Sherva, R., Walters, R., Ware, J. J., Abdellaoui, A., Bigdeli, T. B., Branje, S. J. T., Brown, S. A., Bruinenberg, M., Casas, M., Esko, T., Garcia-Martinez, I., Gordon, S. D., Harris, J. M., Hartman, C. A., Henders, A. K. ... Vink, J. M. (2016). Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium. Translational Psychiatry, 6 (3) e769, e769-e769. doi: 10.1038/tp.2016.36

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

Thompson, Deborah J., O'Mara, Tracy A., Glubb, Dylan M., Painter, Jodie N., Cheng, Timothy, Folkerd, Elizabeth, Doody, Deborah, Dennis, Joe, Webb, Penelope M., Gorman, Maggie, Martin, Lynn, Hodgson, Shirley, Michailidou, Kyriaki, Tyrer, Jonathan P., Maranian, Mel J., Hall, Per, Czene, Kamila, Darabi, Hatef, Li, Jingmei, Fasching, Peter A., Hein, Alexander, Beckmann, Matthias W., Ekici, Arif B., Doerk, Thilo, Hillemanns, Peter, Duerst, Matthias, Runnebaum, Ingo, Zhao, Hui, Depreeuw, Jeroen ... Spurdle, Amanda B. (2016). CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. Endocrine-Related Cancer, 23 (2), 77-91. doi: 10.1530/ERC-15-0386

Impact of a cis-associated gene expression SNP on chromosome 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance

Li, Ming, Luo, Xiong-Jian, Landén, Mikael, Bergen, Sarah E., Hultman, Christina M., Li, Xiao, Zhang, Wen, Yao, Yong-Gang, Zhang, Chen, Liu, Jiewei, Mattheisen, Manuel, Cichon, Sven, Mühleisen, Thomas W., Degenhardt, Franziska A., Nöthen, Markus M., Schulze, Thomas G., Grigoroiu-Serbanescu, Maria, Li, Hao, Fuller, Chris K., Chen, Chunhui, Dong, Qi, Chen, Chuansheng, Jamain, Stéphane, Leboyer, Marion, Bellivier, Frank, Etain, Bruno, Kahn, Jean-Pierre, Henry, Chantal, Preisig, Martin ... The Swedish Bipolar Study Group (2016). Impact of a cis-associated gene expression SNP on chromosome 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance. British Journal of Psychiatry, 208 (2), 128-137. doi: 10.1192/bjp.bp.114.156976

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Pattaro, Cristian, Teumer, Alexander, Gorski, Mathias, Chu, Audrey Y., Li, Man, Mijatovic, Vladan, Garnaas, Maija, Tin, Adrienne, Sorice, Rossella, Li, Yong, Taliun, Daniel, Olden, Matthias, Foster, Meredith, Yang, Qiong, Chen, Ming-Huei, Pers, Tune H., Johnson, Andrew D., Ko, Yi-An, Fuchsberger, Christian, Tayo, Bamidele, Nalls, Michael, Feitosa, Mary F., Isaacs, Aaron, Dehghan, Abbas, d'Adamo, Pio, Adeyemo, Adebowale, Dieffenbach, Aida Karina, Zonderman, Alan B., Nolte, Ilja M. ... Fox, Caroline S. (2016). Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function. Nature Communications, 7 (1) 10023. doi: 10.1038/ncomms10023

Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differences

Hill, W. D., Davies, G., Liewald, D. C., Payton, A., McNeil, C. J., Whalley, L. J., Horan, M., Ollier, W., Starr, J. M., Pendleton, N., Hansel, N. K., Montgomery, G. W., Medland, S. E., Martin, N. G., Wright, M. J., Bates, T. C. and Deary, I. J. (2016). Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differences. Intelligence, 54, 80-89. doi: 10.1016/j.intell.2015.11.005

Twenty-eight loci that influence serum urate levels: analysis of association with gout

Phipps-Green, A. J., Merriman, M. E., Topless, R., Altaf, S., Montgomery, G. W., Franklin, C., Jones, G. T., Van Rij, A. M., White, D., Stamp, L. K., Dalbeth, N. and Merriman, T. R. (2016). Twenty-eight loci that influence serum urate levels: analysis of association with gout. Annals of the Rheumatic Diseases, 75 (1), 124-130. doi: 10.1136/annrheumdis-2014-205877

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

Day, Felix R., Ruth, Katherine S., Thompson, Deborah J., Lunetta, Kathryn L., Pervjakova, Natalia, Chasman, Daniel I., Stolk, Lisette, Finucane, Hilary K., Sulem, Patrick, Bulik-Sullivan, Brendan, Esko, Toñu, Johnson, Andrew D., Elks, Cathy E., Franceschini, Nora, He, Chunyan, Altmaier, Elisabeth, Brody, Jennifer A., Franke, Lude L., Huffman, Jennifer E., Keller, Margaux F., McArdle, Patrick F., Nutile, Teresa, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Smith, Jennifer A., Teumer, Alexander, Traglia, Michela ... Murray, Anna (2015). Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair. Obstetrical and Gynecological Survey, 70 (12), 758-762. doi: 10.1097/01.ogx.0000473766.71624.99

Sharing a placenta is associated with a greater similarity in DNA methylation in monochorionic versus dichorionic twin pars in blood at age 14

Bui, Masato, Benyamin, Beben, Shah, Sonia, Henders, Anjali K., Martin, Nicholas G., Montgomery, Grant W. and McRae, Allan F. (2015). Sharing a placenta is associated with a greater similarity in DNA methylation in monochorionic versus dichorionic twin pars in blood at age 14. Twin Research and Human Genetics, 18 (6), 680-685. doi: 10.1017/thg.2015.87

Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C

van Leeuwen, Elisabeth M., Huffman, Jennifer E., Bis, Joshua C., Isaacs, Aaron, Mulder, Monique, Sabo, Aniko, Smith, Albert V., Demissie, Serkalem, Manichaikul, Ani, Brody, Jennifer A., Feitosa, Mary F., Duan, Qing, Schraut, Katharina E., Navarro, Pau, van Vliet-Ostaptchouk, Jana V., Zhu, Gu, Mbarek, Hamdi, Trompet, Stella, Verweij, Niek, Lyytikäinen, Leo-Pekka, Deelen, Joris, Nolte, Ilja M., van der Laan, Sander W., Davies, Gail, Vermeij-Verdoold, Andrea J. M., van Oosterhout, Andy A. L. J., Vergeer-Drop, Jeannette M., Arking, Dan E., Trochet, Holly ... van Duijn, Cornelia (2015). Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C. npj Aging and Mechanisms of Disease, 1 (1) 15011. doi: 10.1038/npjamd.2015.11

Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder

Forstner, A. J., Hofmann, A., Maaser, A., Sumer, S., Khudayberdiev, S., Muehleisen, T. W., Leber, M., Schulze, T. G., Strohmaier, J., Degenhardt, F., Treutlein, J., Mattheisen, M., Schumacher, J., Breuer, R., Meier, S., Herms, S., Hoffmann, P., Lacour, A., Witt, S. H., Reif, A., Mueller-Myhsok, B., Lucae, S., Maier, W., Schwarz, M., Vedder, H., Kammerer-Ciernioch, J., Pfennig, A., Bauer, M., Hautzinger, M. ... Noethen, M. M. (2015). Genome-wide analysis implicates microRNAs and their target genes in the development of bipolar disorder. Translational psychiatry, 5 (11) e678, e678-e678. doi: 10.1038/tp.2015.159

Meta-analysis identifies seven susceptibility loci involved in the atopic March

Marenholz, Ingo, Esparza-Gordillo, Jorge, Ruschendorf, Franz, Bauerfeind, Anja, Strachan, David P., Spycher, Ben D., Baurecht, Hansjorg, Margaritte-Jeannin, Patricia, Saaf, Annika, Kerkhof, Marjan, Ege, Markus, Baltic, Svetlana, Matheson, Melanie C., Li, Jin, Michel, Sven, Ang, Wei Q., McArdle, Wendy, Arnold, Andreas, Homuth, Georg, Demenais, Florence, Bouzigon, Emmanuelle, Soderhall, Cilla, Pershagen, Goran, De Jongste, Johan C., Postma, Dirkje S., Braun-Fahrlander, Charlotte, Horak, Elisabeth, Ogorodova, Ludmila M., Puzyrev, Valery P. ... Lee, Young Ae (2015). Meta-analysis identifies seven susceptibility loci involved in the atopic March. Nature Communications, 6 (1) 8804, 8804.1-8804.8. doi: 10.1038/ncomms9804

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

Day, Felix R., Ruth, Katherine S., Thompson, Deborah J., Lunetta, Kathryn L., Pervjakova, Natalia, Chasman, Daniel I., Stolk, Lisette, Finucane, Hilary K., Sulem, Patrick, Bulik-Sullivan, Brendan, Esko, Tonu, Johnson, Andrew D., Elks, Cathy E., Franceschini, Nora, He, Chunyan, Altmaier, Elisabeth, Brody, Jennifer A., Franke, Lude L., Huffman, Jennifer E., Keller, Margaux F., McArdle, Patrick F., Nutile, Teresa, Porcu, Eleonora, Robino, Antonietta, Rose, Lynda M., Schick, Ursula M., Smith, Jennifer A., Teumer, Alexander, Traglia, Michela ... Murray, Anna (2015). Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nature Genetics, 47 (11), 1294-1305. doi: 10.1038/ng.3412

Monoacylglycerol lipase (MGLL) polymorphism rs604300 interacts with childhood adversity to predict cannabis dependence symptoms and amygdala habituation: Evidence from an endocannabinoid system-level analysis

Carey, Caitlin E., Agrawal, Arpana, Zhang, Bo, Conley, Emily D., Degenhardt, Louisa, Heath, Andrew C., Li, Daofeng, Lynskey, Michael T., Martin, Nicholas G., Montgomery, Grant W., Wang, Ting, Bierut, Laura J., Hariri, Ahmad R., Nelson, Elliot C. and Bogdan, Ryan (2015). Monoacylglycerol lipase (MGLL) polymorphism rs604300 interacts with childhood adversity to predict cannabis dependence symptoms and amygdala habituation: Evidence from an endocannabinoid system-level analysis. Journal of Abnormal Psychology, 124 (4), 860-877. doi: 10.1037/abn0000079

The transcriptional landscape of age in human peripheral blood

Peters, Marjolein J., Joehanes, Roby, Pilling, Luke C., Schurmann, Claudia, Conneely, Karen N., Powell, Joseph, Reinmaa, Eva, Sutphin, George L., Zhernakova, Alexandra, Schramm, Katharina, Wilson, Yana A., Kobes, Sayuko, Tukiainen, Taru, Ramos, Yolande F., Goring, Harald H. H., Fornage, Myriam, Liu, Yongmei, Gharib, Sina A., Stranger, Barbara E., De Jager, Philip L., Aviv, Abraham, Levy, Daniel, Murabito, Joanne M., Munson, Peter J., Huan, Tianxiao, Hofman, Albert, Uitterlinden, Andre G., Rivadeneira, Fernando, Van Rooij, Jeroen ... NABEC/UKBEC Consortium (2015). The transcriptional landscape of age in human peripheral blood. Nature Communications, 6 (1) 8570, 8570.1-8570.14. doi: 10.1038/ncomms9570

Cis-expression quantitative trait loci mapping reveals replicable associations with heroin addiction in OPRM1

Hancock, Dana B., Levy, Joshua L., Gaddis, Nathan C., Glasheen, Cristie, Saccone, Nancy L., Page, Grier P., Hulse, Gary K., Wildenauer, Dieter, Kelty, Erin A., Schwab, Sibylle G., Degenhardt, Louisa, Martin, Nicholas G., Montgomery, Grant W., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Bierut, Laura J., Nelson, Elliot C., Kral, Alex H. and Johnson, Eric O. (2015). Cis-expression quantitative trait loci mapping reveals replicable associations with heroin addiction in OPRM1. Biological Psychiatry, 78 (7), 474-484. doi: 10.1016/j.biopsych.2015.01.003

Independent replication and meta-analysis for endometriosis risk loci

Sapkota, Yadav, Fassbender, Amelie, Bowdler, Lisa, Fung, Jenny N., Peterse, Danielle, O, Dorien, Montgomery, Grant W., Nyholt, Dale R. and D'Hooghe, Thomas M. (2015). Independent replication and meta-analysis for endometriosis risk loci. Twin Research and Human Genetics, 18 (5), 518-525. doi: 10.1017/thg.2015.61

The influence of age and sex on genetic associations with adult body size and shape: a large-scale genome-wide interaction study

Winkler, Thomas W., Justice, Anne E., Graff, Mariaelisa, Barata, Llilda, Feitosa, Mary F., Chu, Su, Czajkowski, Jacek, Esko, Tonu, Fall, Tove, Kilpelainen, Tuomas O., Lu, Yingchang, Magi, Reedik, Mihailov, Evelin, Pers, Tune H., Rueeger, Sina, Teumer, Alexander, Ehret, Georg B., Ferreira, Teresa, Heard-Costa, Nancy L., Karjalainen, Juha, Lagou, Vasiliki, Mahajan, Anubha, Neinast, Michael D., Prokopenko, Inga, Simino, Jeannette, Teslovich, Tanya M., Jansen, Rick, Westra, Harm-Jan, White, Charles C. ... Loos, Ruth J. F. (2015). The influence of age and sex on genetic associations with adult body size and shape: a large-scale genome-wide interaction study. PL o S Genetics, 11 (10) e1005378, 1-42. doi: 10.1371/journal.pgen.1005378

Zygosity differences in height and body mass index of twins from infancy to old age: a study of the CODATwins project

Jelenkovic, Aline, Yokoyama, Yoshie, Sund, Reijo, Honda, Chika, Bogl, Leonie H., Aaltonen, Sari, Ji, Fuling, Ning, Feng, Pang, Zengchang, Ordonana, Juan R., Sanchez-Romera, Juan F., Colodro-Conde, Lucia, Burt, S. Alexandra, Klump, Kelly L., Medland, Sarah E., Montgomery, Grant W., Kandler, Christian, McAdams, Tom A., Eley, Thalia C., Gregory, Alice M., Saudino, Kimberly J., Dubois, Lise, Boivin, Michel, Tarnoki, Adam D., Tarnoki, David L., Haworth, Claire M. A., Plomin, Robert, Oncel, Sevgi Y., Aliev, Fazil ... Silventoinen, Karri (2015). Zygosity differences in height and body mass index of twins from infancy to old age: a study of the CODATwins project. Twin Research and Human Genetics, 18 (5), 557-570. doi: 10.1017/thg.2015.57

Genome-wide autozygosity is associated with lower general cognitive ability

Howrigan, D.P., Simonson, M.A., Davies, G., Harris, S.E., Tenesa, A., Starr, J.M., Liewald, D.C., Deary, I.J., McRae, A., Wright, M.J., Montgomery, G.W., Hansell, N., Martin, N.G., Payton, A., Horan, M., Ollier, W.E., Abdellaoui, A., Boomsma, D.I., DeRosse, P., Knowles, E.E.M., Glahn, D.C., Djurovic, S., Melle, I., Andreassen, O.A., Christoforou, A., Steen, V.M., Hellard, S.L., Sundet, K., Reinvang, I. ... Keller, M.C. (2015). Genome-wide autozygosity is associated with lower general cognitive ability. Molecular Psychiatry, 21 (6), 837-843. doi: 10.1038/mp.2015.120

Population genetic differentiation of height and body mass index across Europe

Robinson, Matthew R., Hemani, Gibran, Medina-Gomez, Carolina, Mezzavilla, Massimo, Esko, Tonu, Shakhbazov, Konstantin, Powell, Joseph E., Vinkhuyzen, Anna, Berndt, Sonja I., Gustafsson, Stefan, Justice, Anne E., Kahali, Bratati, Locke, Adam E., Pers, Tune H., Vedantam, Sailaja, Wood, Andrew R., van Rheenen, Wouter, Andreassen, Ole A., Gasparini, Paolo, Metspalu, Andres, van den Berg, Leonard H., Veldink, Jan H., Rivadeneira, Fernando, Werge, Thomas M., Abecasis, Goncalo R., Boomsma, Dorret I., Chasman, Daniel I., de Geus, Eco J. C., Frayling, Timothy M. ... Visscher, Peter M. (2015). Population genetic differentiation of height and body mass index across Europe. Nature Genetics, 47 (11), 1357-1361. doi: 10.1038/ng.3401

Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

van Den Berg, Stephanie M., de Moor, Marleen H.M., Verweij, Karin J.H., Krueger, Robert F., Luciano, Michelle, Arias Vasquez, Alejandro, Matteson, Lindsay K., Derringer, Jaime, Esko, Tonu, Amin, Najaf, Gordon, Scott D., Hansell, Narelle K., Hart, Amy B., Seppala, Ilkka, Huffman, Jennifer, Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abdellaoui, Abdel, Abecasis, Goncalo R., Adkins, Daniel E., Agrawal, Arpana, Allik, Juri ... Boomsma, Dorret I. (2015). Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium. Behavior Genetics, 46 (2), 170-182. doi: 10.1007/s10519-015-9735-5

Genetics of endometriosis

Rahmioglu, Nilufer, Montgomery, Grant W. and Zondervan, Krina T. (2015). Genetics of endometriosis. Women's Health, 11 (5), 577-586. doi: 10.2217/whe.15.41

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma

Law, Matthew H., Bishop, D. Timothy, Lee, Jeffrey E., Brossard, Myriam, Martin, Nicholas G., Moses, Eric K., Song, Fengju, Barrett, Jennifer H., Kumar, Rajiv, Easton, Douglas F., Pharoah, Paul D. P., Swerdlow, Anthony J., Kypreou, Katerina P., Taylor, John C., Harland, Mark, Randerson-Moor, Juliette, Akslen, Lars A., Andresen, Per A., Avril, Marie-Franoise, Azizi, Esther, Scarra, Giovanna Bianchi, Brown, Kevin M., Debniak, Tadeusz, Duffy, David L., Elder, David E., Fang, Shenying, Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola ... Iles, Mark M. (2015). Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nature Genetics, 47 (9), 987-995. doi: 10.1038/ng.3373

POLE mutations in families predisposed to cutaneous melanoma

Aoude, Lauren G., Heitzer, Ellen, Johansson, Peter, Gartside, Michael, Wadt, Karin, Pritchard, Antonia L., Palmer, Jane M., Symmons, Judith, Gerdes, Anne-Marie, Montgomery, Grant W., Martin, Nicholas G., Tomlinson, Ian, Kearsey, Stephen and Hayward, Nicholas K. (2015). POLE mutations in families predisposed to cutaneous melanoma. Familial Cancer, 14 (4), 621-628. doi: 10.1007/s10689-015-9826-8

Multicohort analysis of the maternal age effect on recombination

Martin, Hilary C., Christ, Ryan, Hussin, Julie G., O'Connell, Jared, Gordon, Scott, Mbarek, Hamdi, Hottenga, Jouke-Jan, McAloney, Kerrie, Willemsen, Gonnecke, Gasparini, Paolo, Pirastu, Nicola, Montgomery, Grant W., Navarro, Pau, Soranzo, Nicole, Toniolo, Daniela, Vitart, Veronique, Wilson, James F., Marchini, Jonathan, Boomsma, Dorret I., Martin, Nicholas G. and Donnelly, Peter (2015). Multicohort analysis of the maternal age effect on recombination. Nature Communications, 6 (1) 7846. doi: 10.1038/ncomms8846

Evidence of CNIH3 involvement in opioid dependence

Nelson, E. C., Agrawal, A., Heath, A. C., Bogdan, R., Sherva, R., Zhang, B., Al-Hasani, R., Bruchas, M. R., Chou, Y.-L., Demers, C. H., Carey, C. E., Conley, E. D., Fakira, A. K., Farrer, L. A., Goate, A., Gordon, S., Henders, A. K., Hesselbrock, V., Kapoor, M., Lynskey, M. T., Madden, P. A. F., Moron, J. A., Rice, J. P., Saccone, N. L., Schwab, S. G., Shand, F. L., Todorov, A. A., Wallace, L., Wang, T. ... Montgomery, G. W. (2015). Evidence of CNIH3 involvement in opioid dependence. Molecular Psychiatry, 21 (5), 608-614. doi: 10.1038/mp.2015.102

The CODATwins project: the cohort description of collaborative project of development of anthropometrical measures in twins to study macro-environmental variation in genetic and environmental effects on anthropometric traits

Silventoinen, Karri, Jelenkovic, Aline, Sund, Reijo, Honda, Chika, Aaltonen, Sari, Yokoyama, Yoshie, Tarnoki, Adam D., Tarnoki, David L., Ning, Feng, Ji, Fuling, Pang, Zengchang, Ordonana, Juan R., Sanchez-Romera, Juan F., Colodro-Conde, Lucia, Burt, S. Alexandra, Klump, Kelly L., Medland, Sarah E., Montgomery, Grant W., Kandler, Christian, McAdams, Tom A., Eley, Thalia C., Gregory, Alice M., Saudino, Kimberly J., Dubois, Lise, Boivin, Michel, Haworth, Claire M. A., Plomin, Robert, Oncel, Sevgi Y., Aliev, Fazil ... Kaprio, Jaakko (2015). The CODATwins project: the cohort description of collaborative project of development of anthropometrical measures in twins to study macro-environmental variation in genetic and environmental effects on anthropometric traits. Twin Research and Human Genetics, 18 (4), 348-360. doi: 10.1017/thg.2015.29

Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma

Gharahkhani, Puya, Burdon, Kathryn P., Hewitt, Alex W., Law, Matthew H., Souzeau, Emmanuelle, Montgomery, Grant W., Radford-Smith, Graham, Mackey, David A., Craig, Jamie E. and MacGregor, Stuart (2015). Accurate imputation-based screening of Gln368Ter myocilin variant in primary open-angle glaucoma. Investigative Ophthalmology and Visual Science, 56 (9), 5087-5093. doi: 10.1167/iovs.15-17305

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

Liu, Fan, Visser, Mijke, Duffy, David L., Hysi, Pirro G., Jacobs, Leonie C., Lao, Oscar, Zhong, Kaiyin, Walsh, Susan, Chaitanya, Lakshmi, Wollstein, Andreas, Zhu, Gu, Montgomery, Grant W., Henders, Anjali K., Mangino, Massimo, Glass, Daniel, Bataille, Veronique, Sturm, Richard A., Rivadeneira, Fernando, Hofman, Albert, van IJcken, Wilfred F. J., Uitterlinden, André G., Palstra, Robert-Jan T. S., Spector, Timothy D., Martin, Nicholas G., Nijsten, Tamar E. C. and Kayser, Manfred (2015). Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up. Human Genetics, 134 (8), 823-835. doi: 10.1007/s00439-015-1559-0

Improving phenotypic prediction by combining genetic and epigenetic associations

Shah, Sonia, Bonder, Marc J., Marioni, Riccardo E., Zhu, Zhihong, McRae, Allan F., Zhernakova, Alexandra, Harris, Sarah E., Liewald, Dave, Henders, Anjali K., Mendelson, Michael M., Liu, Chunyu, Joehanes, Roby, Liang, Liming, Levy, Daniel, Martin, Nicholas G., Starr, John M., Wijmenga, Cisca, Wray, Naomi R., Yang, Jian, Montgomery, Grant W., Franke, Luke, Deary, Ian J., Visscher, Peter M. and BIOS Consortium (2015). Improving phenotypic prediction by combining genetic and epigenetic associations. American Journal of Human Genetics, 97 (1), 75-85. doi: 10.1016/j.ajhg.2015.05.014

Directional dominance on stature and cognition in diverse human populations

Joshi, Peter K., Esko, Tonu, Mattsson, Hannele, Eklund, Niina, Gandin, Ilaria, Nutile, Teresa, Jackson, Anne U., Schurmann, Claudia, Smith, Albert V., Zhang, Weihua, Okada, Yukinori, Stancakova, Alena, Faul, Jessica D., Zhao, Wei, Bartz, Traci M., Concas, Maria Pina, Franceschini, Nora, Enroth, Stefan, Vitart, Veronique, Trompet, Stella, Guo, Xiuqing, Chasman, Daniel I., O'Connel, Jeffrey R., Corre, Tanguy, Nongmaithem, Suraj S., Chen, Yuning, Mangino, Massimo, Ruggiero, Daniela, Traglia, Michela ... Wilson, James F. (2015). Directional dominance on stature and cognition in diverse human populations. Nature, 523 (7561), 459-462. doi: 10.1038/nature14618

Genetic burden associated with varying degrees of disease severity in endometriosis

Sapkota, Yadav, Attia, John, Gordon, Scott D., Henders, Anjali K., Holliday, Elizabeth G., Rahmioglu, Nilufer, MacGregor, Stuart, Martin, Nicholas G., McEvoy, Mark, Morris, Andrew P., Scott, Rodney J., Zondervan, Krina T., Montgomery, Grant W. and Nyholt, Dale R. (2015). Genetic burden associated with varying degrees of disease severity in endometriosis. Molecular Human Reproduction, 21 (7), 594-602. doi: 10.1093/molehr/gav021

Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder

De Moor, Marleen H.M, Van Den Berg, Stephanie M, Verweij, Karin J.H, Krueger, Robert F, Luciano, Michelle, Arias Vasquez, Alejandro, Matteson, Lindsay K, Derringer, Jaime, Esko, Tonu, Amin, Najaf, Gordon, Scott D, Hansell, Narelle K, Hart, Amy B, Seppala, Ilkka, Huffman, Jennifer E, Konte, Bettina, Lahti, Jari, Lee, Minyoung, Miller, Mike, Nutile, Teresa, Tanaka, Toshiko, Teumer, Alexander, Viktorin, Alexander, Wedenoja, Juho, Abecasis, Goncalo R, Adkins, Daniel E, Agrawal, Arpana, Allik, Juri, Appel, Katja ... Boomsma, Dorret I (2015). Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder. JAMA Psychiatry, 72 (7), 642-650. doi: 10.1001/jamapsychiatry.2015.0554

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

Draisma, Harmen H. M., Pool, Rene, Kobl, Michael, Jansen, Rick, Petersen, Ann-Kristin, Vaarhorst, Anika A. M., Yet, Idil, Haller, Toomas, Demirkan, Ayse, Esko, Tonu, Zhu, Gu, Boehringer, Stefan, Beekman, Marian, van Klinken, Jan Bert, Roemisch-Margl, Werner, Prehn, Cornelia, Adamski, Jerzy, de Craen, Anton J. M., van Leeuwen, Elisabeth M., Amin, Najaf, Dharuri, Harish, Westra, Harm-Jan, Franke, Lude, de Geus, Eco J. C., Hottenga, Jouke Jan, Willemsen, Gonneke, Henders, Anjali K., Montgomery, Grant W., Nyholt, Dale R. ... Boomsma, Dorret I. (2015). Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels. Nature Communications, 6 (1) 7208. doi: 10.1038/ncomms8208

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

Lu, Yi, Cuellar-Partida, Gabriel, Painter, Jodie N., Nyholt, Dale R., Morris, Andrew P., Fasching, Peter A., Hein, Alexander, Burghaus, Stefanie, Beckmann, Matthias W., Lambrechts, Diether, Van Nieuwenhuysen, Els, Vergote, Ignace, Vanderstichele, Adriaan, Doherty, Jennifer Anne, Rossing, Mary Anne, Wicklund, Kristine G., Chang-Claude, Jenny, Eilber, Ursula, Rudolph, Anja, Wang-Gohrke, Shan, Goodman, Marc T., Bogdanova, Natalia, Doerk, Thilo, Duerst, Matthias, Hillemanns, Peter, Runnebaum, Ingo B., Antonenkova, Natalia, Butzow, Ralf, Leminen, Arto ... Visscher, Peter M. (2015). Shared genetics underlying epidemiological association between endometriosis and ovarian cancer. Human Molecular Genetics, 24 (20), 5955-5964. doi: 10.1093/hmg/ddv306

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness

Cuellar-Partida, Gabriel, Springelkamp, Henriet, Lucas, Sionne E. M., Yazar, Seyhan, Hewitt, Alex W., Iglesias, Adriana I., Montgomery, Grant W., Martin, Nicholas G., Pennell, Craig E., van Leeuwen, Elisabeth M., Verhoeven, Virginie J. M., Hofman, Albert, Uitterlinden, Andre G., Ramdas, Wishal D., Wolfs, Roger. C. W., Vingerling, Johannes R., Brown, Matthew A., Mills, Richard A., Craig, Jamie E., Klaver, Caroline C. W., van Duijn, Cornelia M., Burdon, Kathryn P., MacGregor, Stuart and Mackey, David A. (2015). WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness. Human Molecular Genetics, 24 (17), 5060-5068. doi: 10.1093/hmg/ddv211

Seasonal effects on gene expression

Goldinger, Anita, Shakhbazov, Konstantin, Henders, Anjali K., McRae, Allan F., Montgomery, Grant W. and Powell, Joseph E. (2015). Seasonal effects on gene expression. PLoS ONE, 10 (5) e0126995, 1-16. doi: 10.1371/journal.pone.0126995

PARP1 polymorphisms play opposing roles in melanoma occurrence and survival

Law, Matthew H., Rowe, Casey J., Montgomery, Grant W., Hayward, Nicholas K., MacGregor, Stuart and Khosrotehrani, Kiarash (2015). PARP1 polymorphisms play opposing roles in melanoma occurrence and survival. International Journal of Cancer, 136 (10), 2488-2489. doi: 10.1002/ijc.29280

Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

Fall, Tove, Hagg, Sara, Ploner, Alexander, Maegi, Reedik, Fischer, Krista, Draisma, Harmen H. M., Sarin, Antti-Pekka, Benyamin, Beben, Ladenvall, Claes, Akerlund, Mikael, Kals, Mart, Esko, Tonu, Nelson, Christopher P., Kaakinen, Marika, Huikari, Ville, Mangino, Massimo, Meirhaeghe, Aline, Kristiansson, Kati, Nuotio, Marja-Liisa, Kobl, Michael, Grallert, Harald, Dehghan, Abbas, Kuningas, Maris, de Vries, Paul S., de Bruijn, Renee F. A. G., Willems, Sara M., Heikkila, Kauko, Silventoinen, Karri, Pietilainen, Kirsi H. ... Ingelsson, Erik (2015). Age- and sex-specific causal effects of adiposity on cardiovascular risk factors. Diabetes, 64 (5), 1841-1852. doi: 10.2337/db14-0988

Functional evaluation of genetic variants associated with endometriosis near GREB1

Fung, Jenny N., Holdsworth-Carson, Sarah J., Sapkota, Yadav, Zhao, Zhen Zhen, Jones, Lincoln, Girling, Jane E., Paiva, Premila, Healey, Martin, Nyholt, Dale R., Rogers, Peter A. W. and Montgomery, Grant W. (2015). Functional evaluation of genetic variants associated with endometriosis near GREB1. Human Reproduction, 30 (5), 1263-1275. doi: 10.1093/humrep/dev051

Common genetic variants influence human subcortical brain structures

Hibar, Derrek P, Stein, Jason L, Renteria, Miguel E, Arias-Vasquez, Alejandro, Desrivieres, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S, Armstrong, Nicola J, Bernard, Manon, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brown, Andrew A, Mallar Chakravarty M., Chen, Qiang, Ching, Christopher R.K., Cuellar-Partida, Gabriel, Den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L, Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J ... Medland, Sarah E (2015). Common genetic variants influence human subcortical brain structures. Nature, 520 (7546), 224-229. doi: 10.1038/nature14101

Genetic basis of a cognitive complexity metric

Hansell, Narelle K., Halford, Graeme S., Andrews, Glenda, Shum, David H. K., Harris, Sarah E., Davies, Gail, Franic, Sanja, Christoforou, Andrea, Zietsch, Brendan, Painter, Jodie, Medland, Sarah E., Ehli, Erik A., Davies, Gareth E., Steen, Vidar M., Lundervold, Astri J., Reinvang, Ivar, Montgomery, Grant W., Espeseth, Thomas, Pol, Hilleke E. Hulshoff, Starr, John M., Martin, Nicholas G., Le Hellard, Stephanie, Boomsma, Dorret I., Deary, Ian J. and Wright, Margaret J. (2015). Genetic basis of a cognitive complexity metric. PLoS One, 10 (4) e0123886, 1-19. doi: 10.1371/journal.pone.0123886

Identifying the biological basis of GWAS hits for endometriosis

Fung, Jenny N., Rogers, Peter A. W. and Montgomery, Grant W. (2015). Identifying the biological basis of GWAS hits for endometriosis. Biology of Reproduction, 92 (4) 87. doi: 10.1095/biolreprod.114.126458

Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults

Zimmermann, E., Angquist, L. H., Mirza, S. S., Zhao, J. H., Chasman, D. I., Fischer, K., Qi, Q., Smith, A. V., Thinggaard, M., Jarczok, M. N., Nalls, M. A., Trompet, S., Timpson, N. J., Schmidt, B., Jackson, A. U., Lyytikainen, L. P., Verweij, N., Mueller-Nurasyid, M., Vikstrom, M., Marques-Vidal, P., Wong, A., Meidtner, K., Middelberg, R. P., Strawbridge, R. J., Christiansen, L., Kyvik, K. O., Hamsten, A., Jaaskelainen, T., Tjonneland, A. ... Montgomery, G. W. (2015). Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults. Obesity Reviews, 16 (4), 327-340. doi: 10.1111/obr.12263

Low birth weight in MZ twins discordant for birth weight is associated with shorter telomere length and lower IQ, but not anxiety/depression in later life

Strohmaier, Jana, van Dongen, Jenny, Willemsen, Gonneke, Nyholt, Dale R., Zhu, Gu, Codd, Veryan, Novakovic, Boris, Hansell, Narelle, Wright, Margaret J., Rietschel, Liz, Streit, Fabian, Henders, Anjali K., Montgomery, Grant W., Samani, Nilesh J., Gillespie, Nathan A., Hickie, Ian B., Craig, Jeffrey M., Saffery, Richard, Boomsma, Dorret I., Rietschel, Marcella and Martin, Nicholas G. (2015). Low birth weight in MZ twins discordant for birth weight is associated with shorter telomere length and lower IQ, but not anxiety/depression in later life. Twin Research and Human Genetics, 18 (2), 198-209. doi: 10.1017/thg.2015.3

Prevalence of germline BAP1, CDKN2A, and CDK4 mutations in an australian population-based sample of cutaneous melanoma cases

Aoude, Lauren G., Gartside, Michael, Johansson, Peter, Palmer, Jane M., Symmons, Judith, Martin, Nicholas G., Montgomery, Grant W. and Hayward, Nicholas K. (2015). Prevalence of germline BAP1, CDKN2A, and CDK4 mutations in an australian population-based sample of cutaneous melanoma cases. Twin Research and Human Genetics, 18 (2), 126-133. doi: 10.1017/thg.2015.12

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis (vol 5, 4926, 2014)

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Genome-wide association study of blood lead shows multiple associations near ALAD

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Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

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Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci

Rahmioglu, Nilufer, Macgregor, Stuart, Drong, Alexander W., Hedman, Asa K., Harris, Holly R., Randall, Joshua C., Prokopenko, Inga, Nyholt, Dale R., Morris, Andrew P., Montgomery, Grant W., Missmer, Stacey A., Lindgren, Cecilia M., Zondervan, Krina T., The International Endogene Consortium and Visscher, Peter M. (2015). Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci. Human Molecular Genetics, 24 (4), 1185-1199. doi: 10.1093/hmg/ddu516

Genetic studies of body mass index yield new insights for obesity biology

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New genetic loci link adipose and insulin biology to body fat distribution

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A twin study of breastfeeding with a preliminary genome-wide association scan

Colodro-Conde, Lucia, Zhu, Gu, Power, Robert A., Henders, Anjali, Heath, Andrew C., Madden, Pamela A. F., Montgomery, Grant W., Medland, Sarah, Ordonana, Juan R. and Martin, Nicholas G. (2015). A twin study of breastfeeding with a preliminary genome-wide association scan. Twin Research and Human Genetics, 18 (1), 61-72. doi: 10.1017/thg.2014.74

Heritability of Transforming Growth Factor-β1 and Tumor Necrosis Factor-Receptor Type 1 Expression and Vitamin D Levels in Healthy Adolescent Twins

Mills, Natalie T., Wright, Margaret J., Henders, Anjali K., Eyles, Darryl W., Baune, Bernhard T., McGrath, John J., Byrne, Edna M., Hansell, Narelle K., Birosova, Eva, Scott, James G., Martin, Nicholas G., Montgomery, Grant W., Wray, Naomi R. and Vinkhuyzen, Anna A. E. (2015). Heritability of Transforming Growth Factor-β1 and Tumor Necrosis Factor-Receptor Type 1 Expression and Vitamin D Levels in Healthy Adolescent Twins. Twin Research and Human Genetics, 18 (1), 28-35. doi: 10.1017/thg.2014.70

Large autosomal copy-number differences within unselected monozygotic twin pairs are rare

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Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma

Aoude, Lauren G., Pritchard, Antonia L., Robles-Espinoza, Carla Daniela, Wadt, Karin, Harland, Mark, Choi, Jiyeon, Gartside, Michael, Quesada, Victor, Johansson, Peter, Palmer, Jane M., Ramsay, Andrew J., Zhang, Xijun, Jones, Kristine, Symmons, Judith, Holland, Elizabeth A., Schmid, Helen, Bonazzi, Vanessa, Woods, Susan, Dutton-Regester, Ken, Stark, Mitchell S., Snowden, Helen, van Doom, Remco, Montgomery, Grant W., Martin, Nicholas G., Keane, Thomas M., Lopez-Otin, Carlos, Gerdes, Anne-Marie, Olsson, Hakan, Ingvar, Christian ... Hayward, Nicholas K. (2015). Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. Journal of the National Cancer Institute, 107 (2) dju408, 1-7. doi: 10.1093/jnci/dju408

Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder

Byrne, Enda M, Raheja, Uttam K, Stephens, Sarah H, Heath, Andrew C, Madden, Pamela A, Vaswani, Dipika, Nijjar, Gagan V, Ryan, Kathleen A, Youssufi, Hassaan, Gehrman, Philip R, Shuldiner, Alan R, Martin, Nicholas G, Montgomery, Grant W, Wray, Naomi R, Nelson, Elliot C, Mitchell, Braxton D, Postolache, Teodor T, Psychiatric Genetics Consortium Major Depressive Disorder Working Group and Middeldorp, Christel (2015). Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder. Journal of Clinical Psychiatry, 76 (2), 128-134. doi: 10.4088/JCP.14m08981

Smoking behaviour modifies IL23r-associated disease risk in patients with Crohn's disease

Doecke, James D, Simms, Lisa A, Zhao, Zhen Zhen, Roberts, Rebecca L, Fowler, Elizabeth V, Croft, Anthony, Lin, Angela, Huang, Ning, Whiteman, David C, Florin, Timothy H J, Barclay, Murray L, Merriman, Tony R, Gearry, Richard B, Montgomery, Grant W and Radford-Smith, Graham L (2015). Smoking behaviour modifies IL23r-associated disease risk in patients with Crohn's disease. Journal of Gastroenterology and Hepatology (Australia), 30 (2), 299-307. doi: 10.1111/jgh.12674

DNA methylation age of blood predicts all-cause mortality in later life

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Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

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Association between endometriosis and the interleukin 1A (IL1A) locus

Sapkota, Yadav, Low, Siew-Kee, Attia, John, Gordon, Scott D., Henders, Anjali K., Holliday, Elizabeth G., MacGregor, Stuart, Martin, Nicholas G., McEvoy, Mark, Morris, Andrew P., Takahashi, Atsushi, Scott, Rodney J., Kubo, Michiaki, Zondervan, Krina T., Montgomery, Grant W. and Nyholt, Dale R. (2015). Association between endometriosis and the interleukin 1A (IL1A) locus. Human Reproduction, 30 (1), 239-248. doi: 10.1093/humrep/deu267

Isocitrate dehydrogenase 1 R132C mutation occurs exclusively in microsatellite stable colorectal cancers with the CpG island methylator phenotype

Whitehall, V. L. J., Dumenil, T. D., McKeone, D. M., Bond, C. E., Bettington, M. L., Buttenshaw, R. L., Bowdler, L., Montgomery, G. W., Wockner, L. F. and Leggett, B. A. (2014). Isocitrate dehydrogenase 1 R132C mutation occurs exclusively in microsatellite stable colorectal cancers with the CpG island methylator phenotype. Epigenetics, 9 (11), 1454-1460. doi: 10.4161/15592294.2014.971624

Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study

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A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

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Obesity gene NEGR1 associated with white matter integrity in healthy young adults

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Defining the role of common variation in the genomic and biological architecture of adult human height

Wood, Andrew R., Esko, Tonu, Yang, Jian, Vedantam, Sailaja, Pers, Tune H., Gustafsson, Stefan, Chu, Audrey Y., Estrada, Karol, Luan, Jian'an, Kutalik, Zoltan, Amin, Najaf, Buchkovich, Martin L., Croteau-Chonka, Damien C., Day, Felix R., Duan, Yanan, Fall, Tove, Fehrmann, Rudolf, Ferreira, Teresa, Jackson, Anne U., Karjalainen, Juha, Lo, Ken Sin, Locke, Adam E., Magi, Reedik, Mihailov, Evelin, Porcu, Evelin, Randall, Joshua C., Scherag, Andre, Vinkhuyzen, Anne A. E., Westra, Harm-Jan ... Frayling, Timothy M. (2014). Defining the role of common variation in the genomic and biological architecture of adult human height. Nature Genetics, 46 (11), 1173-1186. doi: 10.1038/ng.3097

Genetic and environmental exposures constrain epigenetic drift over the human life course

Shah, Sonia, McRae, Allan F., Marioni, Riccardo E., Harris, Sarah E., Gibson, Jude, Henders, Anjali K., Redmond, Paul, Cox, Simon R., Pattie, Alison, Corley, Janie, Murphy, Lee, Martin, Nicholas G., Montgomery, Grant W., Starr, John M., Wray, Naomi R., Deary, Ian J. and Visscher, Peter M. (2014). Genetic and environmental exposures constrain epigenetic drift over the human life course. Genome Research, 24 (11), 1725-1733. doi: 10.1101/gr.176933.114

Serum cholesterol and variant in cholesterol-related gene CETP predict white matter microstructure

Warstadt, Nicholus M., Dennis, Emily L., Jahanshad, Neda, Kohannim, Omid, Nir, Talia M., McMahon, Katie L., de Zubicaray, Greig I., Montgomery, Grant W., Henders, Anjali K., Martin, Nicholas G., Whitfield, John B., Jack, Clifford R. Jr., Bernstein, Matt A., Weiner, Michael W., Toga, Arthur W., Wright, Margaret J., Thompson, Paul M. and for the Alzheimer’s Disease Neuroimaging Initiative (ADNI) (2014). Serum cholesterol and variant in cholesterol-related gene CETP predict white matter microstructure. Neurobiology of Aging, 35 (11), 2504-2513. doi: 10.1016/j.neurobiolaging.2014.05.024

Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Benyamin, Beben, Esko, Tonu, Ried, Janina S., Radhakrishnan, Aparna, Vermeulen, Sita H., Traglia, Michela, Goegele, Martin, Anderson, Denise, Broer, Linda, Podmore, Clara, Luan, Jian'an, Kutalik, Zoltan, Sanna, Serena, van der Meer, Peter, Tanaka, Toshiko, Wang, Fudi, Westra, Harm-Jan, Franke, Lude, Mihailov, Evelin, Milani, Lili, Haeldin, Jonas, Winkelmann, Juliane, Meitinger, Thomas, Thiery, Joachim, Peters, Annette, Waldenberger, Melanie, Rendon, Augusto, Jolley, Jennifer, Sambrook, Jennifer ... Whitfield, John B. (2014). Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. Nature Communications, 5 (1) 5926, 4926.1-4926.10. doi: 10.1038/ncomms5926

Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

The Coffee and Caffeine Genetics Consortium, Cornelis, M. C., Byrne, E. M., Esko, T., Nalls, M. A., Ganna, A., Paynter, N., Monda, K. L., Amin, N., Fischer, K., Renstrom, F., Ngwa, J. S., Huikari, V., Cavadino, A., Nolte, I. M., Teumer, A., Yu, K., Marques-Vidal, P., Rawa, R., Manichaikul, A., Wojczynski, M. K., Vink, J.,M., Zhao, J. H., Burlutsky, G., Lahti, J., Mikkila, V., Lemaitre,R. N., Eriksson, J., Musani, S. K. ... UK Brain Expression Consortium (UKBEC) (2014). Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption. Molecular Psychiatry, 20 (5), 647-656. doi: 10.1038/mp.2014.107

Another explanation for apparent epistasis: reply

Hemani, Gibran, Shakhbazov, Konstantin, Westra, Harm-Jan, Esko, Tonu, Henders, Anjali K., McRae, Allan F., Yang, Jian, Gibson, Greg, Martin, Nicholas G., Metspalu, Andres, Franke, Lude, Montgomery, Grant W., Visscher, Peter M. and Powell, Joseph E. (2014). Another explanation for apparent epistasis: reply. Nature, 514 (7520), E5-E6. doi: 10.1038/nature13692

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma

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Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Perry, John R. B., Day, Felix, Elks, Cathy E., Sulem, Patrick, Thompson, Deborah J., Ferreira, Teresa, He, Chunyan, Chasman, Daniel I., Esko, Toenu, Thorleifsson, Gudmar, Albrecht, Eva, Ang, Wei Q., Corre, Tanguy, Cousminer, Diana L., Feenstra, Bjarke, Franceschini, Nora, Ganna, Andrea, Johnson, Andrew D., Kjellqvist, Sanela, Lunetta, Kathryn L., McMahon, George, Nolte, Ilja M., Paternoster, Lavinia, Porcu, Eleonora, Smith, Albert V., Stolk, Lisette, Teumer, Alexander, Tsernikova, Natalia, Tikkanen, Emmi ... Middeldorp, Christel (2014). Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature, 514 (7520), 92-97. doi: 10.1038/nature13545

The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length

Iles, Mark M., Bishop, D. Timothy, Taylor, John C., Hayward, Nicholas K., Brossard, Myriam, Cust, Anne E., Dunning, Alison M., Lee, Jeffrey E., Moses, Eric K., Akslen, Lars A., AMFS Investigators, Andresen, Per A., Avril, Marie-Francoise, Azizi, Esther, Scarra, Giovanna Bianchi, Brown, Kevin M., Debniak, Tadeusz, Elder, David E., Friedman, Eitan, Ghiorzo, Paola, Gillanders, Elizabeth M., Goldstein, Alisa M., Gruis, Nelleke A., Hansson, Johan, Harland, Mark, Helsing, Per, Hocevar, Marko, Hoiom, Veronica, IBD investigators ... Visscher, Peter (2014). The Effect on Melanoma Risk of Genes Previously Associated With Telomere Length. JNCI Journal of the National Cancer Institute, 106 (10) dju267. doi: 10.1093/jnci/dju267

Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data

Chen, Guo-Bo, Lee, Sang Hong, Brion, Marie-Jo A., Montgomery, Grant W., Wray, Naomi R., Radford-Smith, Graham L., Visscher, Peter M., The International IBD Genetics Consortium, Australia and New Zealand IBDGC, Belgium Genetic Consortium, Initiative on Crohn and Colitis, NIDDK IBDGC, United Kingdom IBDGC and Wellcome Trust Case Control Consortium (2014). Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data. Human Molecular Genetics, 23 (17) ddu174, 4710-4720. doi: 10.1093/hmg/ddu174

Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets

Rahmioglu, Nilufer, Nyholt, Dale R., Morris, Andrew P., Missmer, Stacey A., Montgomery, Grant W. and Zondervan, Krina T. (2014). Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets. Human Reproduction Update, 20 (5) dmu015, 702-716. doi: 10.1093/humupd/dmu015

Identification of a melanoma susceptibility locus and somatic mutation in TET2

Song, Fengju, Amos, Christopher I., Lee, Jeffrey E., Lian, Christine G., Fang, Shenying, Liu, Hongliang, MacGregor, Stuart, Iles, Mark M., Law, Matthew H., Lindeman, Neal I., Montgomery, Grant W., Duffy, David L., Cust, Anne E., Jenkins, Mark A., Whiteman, David C., Kefford, Richard F., Giles, Graham G., Armstrong, Bruce K., Aitken, Joanne F., Hopper, John L., Brown, Kevin M., Martin, Nicholas G., Mann, Graham J., Bishop, D. Timothy, Bishop, Julia A. Newton, Kraft, Peter, Qureshi, Abrar A., Kanetsky, Peter A., Hayward, Nicholas K. ... Han, Jiali (2014). Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis, 35 (9) bgu140, 2097-2101. doi: 10.1093/carcin/bgu140

Variants close to NTRK2 gene are associated with birth weight in female twins

Metrustry, Sarah J., Edwards, Mark H., Medland, Sarah E., Holloway, John W., Montgomery, Grant W., Martin, Nicholas G., Spector, Tim D., Cooper, Cyrus and Valdes, Ana M. (2014). Variants close to NTRK2 gene are associated with birth weight in female twins. Twin Research and Human Genetics, 17 (4), 254-261. doi: 10.1017/thg.2014.34

Applying polygenic risk scores to postpartum depression

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Genome-wide DNA methylation analysis of formalin-fixed paraffin embedded colorectal cancer tissue

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PTSD risk associated with a functional DRD2 polymorphism in heroin-dependent cases and controls is limited to amphetamine-dependent individuals

Nelson, Elliot C., Heath, Andrew C., Lynskey, Michael T., Agrawal, Arpana, Henders, Anjali K., Bowdler, Lisa M., Todorov, Alexandre A., Madden, Pamela A. F., Moore, Elizabeth, Degenhardt, Louisa, Martin, Nicholas G. and Montgomery, Grant W. (2014). PTSD risk associated with a functional DRD2 polymorphism in heroin-dependent cases and controls is limited to amphetamine-dependent individuals. Addiction Biology, 19 (4), 700-707. doi: 10.1111/adb.12062

Assessment of PALB2 as a candidate melanoma susceptibility gene

Aoude, Lauren G., Xu, Mai, Zhao, Zhen Zhen, Kovacs, Michael, Palmer, Jane M., Johansson, Peter, Symmons, Judith, Trent, Jeffrey M., Martin, Nicholas G., Montgomery, Grant W., Brown, Kevin M. and Hayward, Nicholas K. (2014). Assessment of PALB2 as a candidate melanoma susceptibility gene. PLoS One, 9 (6) e100683, e100683.1-e100683.7. doi: 10.1371/journal.pone.0100683

Identification of pathways for bipolar disorder: a meta-analysis

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Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits

Jagirdar, Kasturee, Smit, Darren J., Ainger, Stephen A., Lee, Katie J., Brown, Darren L., Chapman, Brett, Zhao, Zhen Zhen, Montgomery, Grant W., Martin, Nicholas G., Stow, Jennifer L., Duffy, David L. and Sturm, Richard A. (2014). Molecular analysis of common polymorphisms within the human Tyrosinase locus and genetic association with pigmentation traits. Pigment Cell and Melanoma Research, 27 (4), 552-564. doi: 10.1111/pcmr.12253

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

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Contribution of genetic variation to transgenerational inheritance of DNA methylation

McRae, Allan F., Powell, Joseph E., Henders, Anjali K., Bowdler, Lisa, Hemani, Gibran, Shah, Sonia, Painter, Jodie N., Martin, Nicholas G., Visscher, Peter M. and Montgomery, Grant W. (2014). Contribution of genetic variation to transgenerational inheritance of DNA methylation. Genome Biology, 15 (5), 1-10. doi: 10.1186/gb-2014-15-5-r73

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

Purrington, Kristen S., Slager, Susan, Eccles, Diana, Yannoukakos, Drakoulis, Fasching, Peter A., Miron, Penelope, Carpenter, Jane, Chang-Claude, Jenny, Martin, Nicholas G., Montgomery, Grant W., Kristensen, Vessela, Anton-Culver, Hoda, Goodfellow, Paul, Tapper, William J., Rafiq, Sajjad, Gerty, Susan M., Durcan, Lorraine, Konstantopoulou, Irene, Fostira, Florentia, Vratimos, Athanassios, Apostolou, Paraskevi, Konstanta, Irene, Kotoula, Vassiliki, Lakis, Sotiris, Dimopoulos, Meletios A., Skarlos, Dimosthenis, Pectasides, Dimitrios, Fountzilas, George, Beckmann, Matthias W. ... Couch, Fergus J. (2014). Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer. Carcinogenesis, 35 (5), 1012-1019. doi: 10.1093/carcin/bgt404

A commonly carried genetic variant in the delta opioid receptor gene, OPRD1, is associated with smaller regional brain volumes: replication in elderly and young populations

Roussotte, Florence F., Jahanshad, Neda, Hibar, Derrek P., Sowell, Elizabeth R., Kohannim, Omid, Barysheva, Marina, Hansell, Narelle K., McMahon, Katie L., de Zubicaray, Greig I., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J., Toga, Arthur W., Jack Jr, Clifford R., Weiner, Michael W., Thompson, Paul M. and ADNI (2014). A commonly carried genetic variant in the delta opioid receptor gene, OPRD1, is associated with smaller regional brain volumes: replication in elderly and young populations. Human Brain Mapping, 35 (4), 1226-1236. doi: 10.1002/hbm.22247

Genome-wide association study reveals two new risk loci for bipolar disorder

Muehleisen, Thomas W., Leber, Markus, Schulze, Thomas G., Strohmaier, Jana, Degenhardt, Franziska, Treutlein, Jens, Mattheisen, Manuel, Forstner, Andreas J., Schumacher, Johannes, Breuer, Rene, Meier, Sandra, Herms, Stefan, Hoffmann, Per, Lacour, Andre, Witt, Stephanie H., Reif, Andreas, Mueller-Myhsok, Bertram, Lucae, Susanne, Maier, Wolfgang, Schwarz, Markus, Vedder, Helmut, Kammerer-Ciernioch, Jutta, Pfennig, Andrea, Bauer, Michael, Hautzinger, Martin, Moebus, Susanne, Priebe, Lutz, Czerski, Piotr M., Hauser, Joanna ... Cichon, Sven (2014). Genome-wide association study reveals two new risk loci for bipolar disorder. Nature Communications, 5 (3339) 3339, 1-8. doi: 10.1038/ncomms4339

Microsatellite stable colorectal cancers stratified by the BRAF V600E mutation show distinct patterns of chromosomal instability

Bond, Catherine E., Nancarrow, Derek J., Wockner, Leesa F., Wallace, Leanne, Montgomery, Grant W., Leggett, Barbara A. and Whitehall, Vicki L. J. (2014). Microsatellite stable colorectal cancers stratified by the BRAF V600E mutation show distinct patterns of chromosomal instability. Plos One, 9 (3) e91739, e91739. doi: 10.1371/journal.pone.0091739

Childhood intelligence is heritable, highly polygenic and associated with FNBP1L

Benyamin, B., St Pourcain, B., Davis, O. S., Davies, G., Hansell, N. K., Brion, M. J., Kirkpatrick, R. M., Cents, R. A. M., Franic, S., Miller, M. B., Haworth, C. M. A., Meaburn, E., Price, T. S., Evans, D. M., Timpson, N., Kemp, J., Ring, S., McArdle, W., Medland, S. E., Yang, J., Harris, S. E., Liewald, D. C., Scheet, P., Xiao, X., Hudziak, J. J., de Geus, E. J. C., Wellcome Trust Case Control Consortium 2 (WTCCC2), Jaddoe, V. W. V., Starr, J. M. ... Visscher, P. M. (2014). Childhood intelligence is heritable, highly polygenic and associated with FNBP1L. Molecular Psychiatry, 19 (2), 253-258. doi: 10.1038/mp.2012.184

Genetic risk score analysis indicates migraine with and without comorbid depression are genetically different disorders

Ligthart, Lannie, Hottenga, Jouke-Jan, Lewis, Cathryn M., Farmer, Anne E., Craig, Ian W., Breen, Gerome, Willemsen, Gonneke, Vink, Jacqueline M., Middeldorp, Christel M., Byrne, Enda M., Heath, Andrew C., Madden, Pamela A. F., Pergadia, Michele L., Montgomery, Grant W., Martin, Nicholas G., Penninx, Brenda W. J. H., McGuffin, Peter, Boomsma, Dorret I. and Nyholt, Dale R. (2014). Genetic risk score analysis indicates migraine with and without comorbid depression are genetically different disorders. Human Genetics, 133 (2), 173-186. doi: 10.1007/s00439-013-1370-8

Human cognitive ability is influenced by genetic variation in components of postsynaptic signalling complexes assembled by NMDA receptors and MAGUK proteins

Hill, W. D., Davies, G., Van De Lagemaat, L. N., Christoforou, A., Marioni, R. E., Fernandes, C. P. D., Liewald, D. C., Croning, M. D. R., Payton, A., Craig, L. C. A., Whalley, L. J., Horan, M., Ollier, W., Hansell, N. K., Wright, M. J., Martin, N. G., Montgomery, G. W., Steen, V. M., Le Hellard, S., Espeseth, T., Lundervold, A. J., Reinvang, I., Starr, J. M., Pendleton, N., Grant, S. G. N., Bates, T. C. and Deary, I. J. (2014). Human cognitive ability is influenced by genetic variation in components of postsynaptic signalling complexes assembled by NMDA receptors and MAGUK proteins. Translational Psychiatry, 4 (1) e341, 1-8. doi: 10.1038/tp.2013.114

DNA modification study of major depressive disorder: beyond locus-by-locus comparisons

Oh, Gabriel, Wang, Sun-Chong, Pal, Mrinal, Chen, Zheng Fei, Khare, Tarang, Tochigi, Mamoru, Ng, Catherine, Yang, Yeqing A., Kwan, Andrew, Kaminsky, Zachary A., Mill, Jonathan, Gunasinghe, Cerisse, Tackett, Jennifer L., Gottesman, Irving I., Willemsen, Gonneke, de Geus, Eco J. C., Vink, Jacqueline M., Slagboom, P. Eline, Wray, Naomi R., Heath, Andrew C., Montgomery, Grant W., Turecki, Gustavo, Martin, Nicholas G., Boomsma, Dorret I., McGuffin, Peter, Kustra, Rafal and Petronis, Art (2014). DNA modification study of major depressive disorder: beyond locus-by-locus comparisons. Biological Psychiatry, 77 (3), 246-255. doi: 10.1016/j.biopsych.2014.06.016

Association of OPRD1 polymorphisms with heroin dependence in a large case-control series

Nelson, Elliot C., Lynskey, Michael T., Heath, Andrew C., Wray, Naomi, Agrawal, Arpana, Shand, Fiona L., Henders, Anjali K., Wallace, Leanne, Todorov, Alexandre A., Schrage, Andrew J., Madden, Pamela A. F., Degenhardt, Louisa, Martin, Nicholas G. and Montgomery, Grant W. (2014). Association of OPRD1 polymorphisms with heroin dependence in a large case-control series. Addiction Biology, 19 (1), 111-121. doi: 10.1111/j.1369-1600.2012.00445.x

Common variant at 16p11.2 conferring risk of psychosis

Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietilainen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., Sigurdsson, E., Vassos, E., Giegling, I., Breuer, R., Fraser, G., Walker, N., Melle, I., Djurovic, S., Agartz, I., Tuulio-Henriksson, A., Suvisaari, J., Lonnqvist, J., Paunio, T., Olsen, L., Hansen, T., Ingason, A., Pirinen, M., Strengman, E., Hougaard, D. M. ... Stefansson, K. (2014). Common variant at 16p11.2 conferring risk of psychosis. Molecular Psychiatry, 19 (1), 108-114. doi: 10.1038/mp.2012.157

Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis

Painter, Jodie N., Nyholt, Dale R, Krause, Lutz, Zhao, Zhen Z., Chapman, Brett, Zhang, Christine, Medland, Sarah, Martin, Nicholas G., Kennedy, Stephen, Treloar, Susan, Zondervan, Krina and Montgomery, Grant W. (2014). Common variants in the CYP2C19 gene are associated with susceptibility to endometriosis. Fertility and Sterility, 102 (2), 496-502.e5. doi: 10.1016/j.fertnstert.2014.04.015

Genetic predisposition to schizophrenia associated with increased use of cannabis

Power, R. A., Verweij, K. J. H., Zuhair, M., Montgomery, G. W., Henders, A. K., Heath, A. C., Madden, P. A. F., Medland, S. E., Wray, N. R. and Martin, N. G. (2014). Genetic predisposition to schizophrenia associated with increased use of cannabis. Molecular Psychiatry, 19 (11), 1201-1204. doi: 10.1038/mp.2014.51

Genome-wide association study on detailed profiles of smoking behavior and nicotine dependence in a twin sample

Loukola, A., Wedenoja, J., Keskitalo-Vuokko, K., Broms, U., Korhonen, T., Ripatti, S., Sarin, A-P, Pitkaniemi, J., He, L., Happola, A., Heikkila, K., Chou, Y-L, Pergadia, M. L., Heath, A. C., Montgomery, G. W., Martin, N. G., Madden, P. A. F. and Kaprio, J. (2014). Genome-wide association study on detailed profiles of smoking behavior and nicotine dependence in a twin sample. Molecular Psychiatry, 19 (5), 615-624. doi: 10.1038/mp.2013.72

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Springelkamp, Henriët, Hoehn, René, Mishra, Aniket, Hysi, Pirro G., Khor, Chiea-Chuen, Loomis, Stephanie J., Bailey, Jessica N. Cooke, Gibson, Jane, Thorleifsson, Gudmar, Janssen, Sarah F., Luo, Xiaoyan, Ramdas, Wishal D., Vithana, Eranga, Nongpiur, Monisha E., Montgomery, GrantW., Xu, Liang, Mountain, Jenny E., Gharahkhani, Puya, Lu, Yi, Amin, Najaf, Karssen, Lennart C., Sim, Kar-Seng, van Leeuwen, Elisabeth M., Iglesias, Adriana I., Verhoeven, Virginie J. M., Hauser, Michael A., Loon, Seng-Chee, Despriet, Dominiek D. G., Nag, Abhishek ... Brown, Matthew A. (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications, 5 (1) 4883, 4883.1-4883.7. doi: 10.1038/ncomms5883

Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index

Hoggart, C. J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J.H., Teumer, A., Winkler, T. W., Tsernikova, N., Luan, J., Mihailov, E., Ehret, G. B., Zhang, W., Lamparter, D., Esko, T., Mace, A., Rueger, S., Bochud, P.-Y., Barcella, M., Dauvilliers, Y., Benyamin, B., Evans, D. M., Hayward, C., Lopez, M. F., Franke, L., Russo, A., Heid, I. M., Salvi, E., Vendantam, S. ... Kutalik Z. (2014). Novel Approach Identifies SNPs in SLC2A10 and KCNK9 with Evidence for Parent-of-Origin Effect on Body Mass Index. PLoS Genetics, 10 (7) e1004508, 1-12. doi: 10.1371/journal.pgen.1004508

POT1 loss-of-function variants predispose to familial melanoma

Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J, Aoude, Lauren G, Quesada, Víctor, Ding, Zhihao, Pooley, Karen A, Pritchard, Antonia L, Tiffen, Jessamy C, Petljak, Mia, Palmer, Jane M, Symmons, Judith, Johansson, Peter, Stark, Mitchell S., Gartside, Michael G, Snowden, Helen, Montgomery, Grant W, Martin, Nicholas G, Liu, Jimmy Z, Choi, Jiyeon, Makowski, Matthew, Brown, Kevin M, Dunning, Alison M, Keane, Thomas M, Lopez-Otin, Carlos, Gruis, Nelleke A, Hayward, Nicholas K, Bishop, D Timothy, Newton-Bishop, Julia A and Adams, David J (2014). POT1 loss-of-function variants predispose to familial melanoma. Nature Genetics, 46 (5), 478-481. doi: 10.1038/ng.2947

Testing the role of circadian genes in conferring risk for psychiatric disorders

Byrne, Enda M., Heath, Andrew C., Madden, Pamela A. F., Pergadia, Michele L., Hickie, Ian B., Montgomery, Grant W., Martin, Nicholas G. and Wray, Naomi R. (2014). Testing the role of circadian genes in conferring risk for psychiatric disorders. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 165 (3), 254-260. doi: 10.1002/ajmg.b.32230

The future for genetic studies in reproduction

Montgomery, G. W., Zondervan, K. T. and Nyholt, D. R. (2014). The future for genetic studies in reproduction. Molecular Human Reproduction, 20 (1), 1-14. doi: 10.1093/molehr/gat058

Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

Ferreira, Manuel A. R., Matheson, Melanie C., Tang, Clara S., Granell, Raquel, Ang, Wei., Hui, Jennie, Kiefer, Amy K., Duffy, David L., Baltic, Svetlana, Danoy, Patrick, Bui, Minh, Price, Loren, Sly, Peter D., Eriksson, Nicholas, Madden, Pamela A., Abraham, Michael J. A., Holt, Patrick G., Heath, p Andrew C., Hunter, Michael, Musk, Bill, Robertson, Colin F., Le Souef, Peter, Montgomery, Grant W., Henderson, A. John, Tung, Joyce Y., Dharmage, Shyamali C., Brown, Matthew A., James, Alan, Thompson, Philip J. ... Australian Asthma Genetics Consortium Collaborators (2013). Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. Journal of Allergy And Clinical Immunology, 133 (6), 1564-1571. doi: 10.1016/j.jaci.2013.10.030

Association analysis of the SLC22A11 (organic anion transporter 4) and SLC22A12 (urate transporter 1) urate transporter locus with gout in New Zealand case-control sample sets reveals multiple ancestral-specific effects

Flynn, Tanya J., Phipps-Green, Amanda, Hollis-Moffatt, Jade E., Merriman, Marilyn E., Topless, Ruth, Montgomery, Grant, Chapman, Brett, Stamp, Lisa K., Dalbeth, Nicola and Merriman, Tony R. (2013). Association analysis of the SLC22A11 (organic anion transporter 4) and SLC22A12 (urate transporter 1) urate transporter locus with gout in New Zealand case-control sample sets reveals multiple ancestral-specific effects. Arthritis Research and Therapy, 15 (6) R220, R220. doi: 10.1186/ar4417

Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking

Stephens, Sarah H., Hartz, Sarah M., Hoft, Nicole R., Saccone, Nancy L., Corley, Robin C., Hewitt, John K., Hopfer, Christian J., Breslau, Naomi, Coon, Hilary, Chen, Xiangning, Ducci, Francesca, Dueker, Nicole, Franceschini, Nora, Frank, Josef, Han, Younghun, Hansel, Nadia N., Jiang, Chenhui, Korhonen, Tellervo, Lind, Penelope A., Liu, Jason, Lyytikaeinen, Leo-Pekka, Michel, Martha, Shaffer, John R., Short, Susan E., Sun, Juzhong, Teumer, Alexander, Thompson, John R., Vogelzangs, Nicole, Vink, Jacqueline M. ... Ehringer, Marissa A. (2013). Distinct loci in the CHRNA5/CHRNA3/CHRNB4 gene cluster are associated with onset of regular smoking. Genetic Epidemiology, 37 (8), 846-859. doi: 10.1002/gepi.21760

Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study

Wang, Jiping, Carvajal-Carmona, Luis G., Chu, Jen-Hwa, Zauber, Ann G., Kubo, Michikai, Matsuda, Koichi, Dunlop, Malcolm, Houlston, Richard S., Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G., Montgomery, Grant W., Young, Joanne, Baird, Paul N., Ratain, Mark J., Nakamura, Yusuke, Weiss, Scott T., Tomlinson, Ian and Bertagnolli, Monica M. (2013). Germline variants and advanced colorectal adenomas: adenoma prevention with celecoxib trial genome-wide association study. Clinical Cancer Research, 19 (23), 6430-6437. doi: 10.1158/1078-0432.CCR-13-0550

Relation between variants in the neurotrophin receptor gene, NTRK3, and white matter integrity in healthy young adults

Braskie, Meredith N., Kohannim, Omid, Jahanshad, Neda, Chiang, Ming-Chang, Barysheva, Marina, Toga, Arthur W., Ringman, John M., Montgomery, Grant W., McMahon, Katie L., de Zubicaray, Greig I., Martin, Nicholas G., Wright, Margaret J. and Thompson, Paul M. (2013). Relation between variants in the neurotrophin receptor gene, NTRK3, and white matter integrity in healthy young adults. Neuroimage, 82, 146-153. doi: 10.1016/j.neuroimage.2013.05.095

A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53

Wang, J-C, Foroud, T., Hinrichs, A. L., Le, N. X. H., Bertelsen, S., Budde, J. P., Harari, O., Koller, D. L., Wetherill, L., Agrawal, A., Almasy, L., Brooks, A. I., Bucholz, K., Dick, D., Hesselbrock, V., Johnson, E. O., Kang, S., Kapoor, M., Kramer, J., Kuperman, S., Madden, P. A. F., Manz, N., Martin, N. G., McClintick, J. N., Montgomery, G. W., Nurnberger, J. I., Rangaswamy, M., Rice, J., Schuckit, M. ... Goate, A. M. (2013). A genome-wide association study of alcohol-dependence symptom counts in extended pedigrees identifies C15orf53. Molecular Psychiatry, 18 (11), 1218-1224. doi: 10.1038/mp.2012.143

Inference of the Genetic Architecture Underlying BMI and Height with the Use of 20,240 Sibling Pairs

Hemani, Gibran, Yang, Jian, Vinkhuyzen, Anna, Powell, Joseph E., Willemsen, Gonneke, Hottenga, Jouke-Jan, Abdellaoui, Abdel, Mangino, Massimo, Valdes, Ana M., Medland, Sarah E., Madden, Pamela A., Heath, Andrew C., Henders, Anjali K., Nyholt, Dale R., de Geus, Eco J. C., Magnusson, Patrik K. E., Ingelsson, Erik, Montgomery, Grant W., Spector, Timothy D., Boomsma, Dorret I., Pedersen, Nancy L., Martin, Nicholas G. and Visscher, Peter M. (2013). Inference of the Genetic Architecture Underlying BMI and Height with the Use of 20,240 Sibling Pairs. American Journal of Human Genetics, 93 (5), 865-875. doi: 10.1016/j.ajhg.2013.10.005

A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk

Revez, J. A., Bain, L., Chapman, B., Powell, J. E., Jansen, R., Duffy, D. L., Tung, J. Y., AAGC Collaborators, Penninx, B. W., Visscher, P. M., De Geus, E. J. C., Boomsma, D. I., Hinds, D. A., Martin, N. G., Montgomery, G. W., Ferreira, M. A. R., Danoy, Patrick and Brown, Matthew A. (2013). A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk. Genes and Immunity, 14 (7), 441-446. doi: 10.1038/gene.2013.38

Systematic identification of trans eQTLs as putative drivers of known disease associations

Westra, Harm-Jan, Peters, Marjolein J., Esko, Tonu, Yaghootkar, Hanieh, Schurmann, Claudia, Kettunen, Johannes, Christiansen, Mark W., Fairfax, Benjamin P., Schramm, Katharina, Powell, Joseph E., Zhernakova, Alexandra, Zhernakova, Daria V., Veldink, Jan H., Van den Berg, Leonard H., Karjalainen, Juha, Withoff, Sebo, Uitterlinden, Andre G., Hofman, Albert, Rivadeneira, Fernando, Hoen, Peter A. C't, Reinmaa, Eva, Fischer, Krista, Nelis, Mari, Milani, Lili, Melzer, David, Ferrucci, Luigi, Singleton, Andrew B., Hernandez, Dena G., Nalls, Michael A. ... Franke, Lude (2013). Systematic identification of trans eQTLs as putative drivers of known disease associations. Nature Genetics, 45 (10), 1238-U195. doi: 10.1038/ng.2756

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Lee, S. Hong, Ripke, Stephan, Neale, Benjamin M., Faraone, Stephen V., Purcell, Shaun M., Perlis, Roy H., Mowry, Bryan J., Thapar, Anita, Goddard, Michael E., Witte, John S., Absher, Devin, Agartz, Ingrid, Akil, Huda, Amin, Farooq, Andreassen, Ole A., Anjorin, Adebayo, Anney, Richard, Anttila, Verneri, Arking, Dan E., Asherson, Philip, Azevedo, Maria H., Backlund, Lena, Badner, Judith A., Bailey, Anthony J., Banaschewski, Tobias, Barchas, Jack D., Barnes, Michael R., Barrett, Thomas B., Bass, Nicholas ... Wray, Naomi R. (2013). Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics, 45 (9), 984-995. doi: 10.1038/ng.2711

Genetic variants associated with disordered eating

Wade, Tracey D., Gordon, Scott, Medland, Sarah, Bulik, Cynthia M., Heath, Andrew C., Montgomery, Grant W. and Martin, Nicholas G. (2013). Genetic variants associated with disordered eating. International Journal of Eating Disorders, 46 (6), 594-608. doi: 10.1002/eat.22133

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

Cheng C.-Y., Schache M., Ikram M.K., Young T.L., Guggenheim J.A., Vitart V., MacGregor S., Verhoeven V.J.M., Barathi V.A., Liao J., Hysi P.G., Bailey-Wilson J.E., St. Pourcain B., Kemp J.P., McMahon G., Timpson N.J., Evans D.M., Montgomery G.W., Mishra A., Wang Y.X., Wang J.J., Rochtchina E., Polasek O., Wright A.F., Amin N., Van Leeuwen E.M., Wilson J.F., Pennell C.E., Van Duijn C.M. ... Baird P.N. (2013). Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. American Journal of Human Genetics, 93 (2), 264-277. doi: 10.1016/j.ajhg.2013.06.016

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

Fernández-Rhodes, Lindsay, Demerath, Ellen W., Cousminer, Diana L., Tao, Ran, Dreyfus, Jill G., Esko, Tõnu, Smith, Albert V., Gudnason, Vilmundur, Harris, Tamara B., Launer, Lenore, McArdle, Patrick F., Yerges-Armstrong, Laura M., Elks, Cathy E., Strachan, David P., Kutalik, Zoltán, Vollenweider, Peter, Feenstra, Bjarke, Boyd, Heather A., Metspalu, Andres, Mihailov, Evelin, Broer, Linda, Zillikens, M. Carola, Oostra, Ben, van Duijn, Cornelia M., Lunetta, Kathryn L., Perry, John R. B., Murray, Anna, Koller, Daniel L., Lai, Dongbing ... Franceschini, Nora (2013). Association of adiposity genetic variants with menarche timing in 92,105 women of European descent. American Journal of Epidemiology, 178 (3), 451-460. doi: 10.1093/aje/kws473

GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association

Rentería, Miguel E., Coolen, Marcel W., Statham, Aaron L., Choi, R. Seong Min, Qu, Wenjia, Campbell, Megan J., Smith, Sara, Henders, Anjali K., Montgomery, Grant W., Clark, Susan J., Martin, Nicholas G. and Medland, Sarah E. (2013). GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. Twin Research and Human Genetics, 16 (4), 767-781. doi: 10.1017/thg.2013.30

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

Bønnelykke, Klaus, Matheson, Melanie C., Pers, Tune H., Granell, Raquel, Strachan, David P., Alves, Alexessander Couto, Linneberg, Allan, Curtin, John A., Warrington, Nicole M., Standl, Marie, Kerkhof, Marjan, Jonsdottir, Ingileif, Bukvic, Blazenka K., Kaakinen, Marika, Sleimann, Patrick, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Schramm, Katharina, Baltic, Svetlana, Kreiner-Møller, Eskil, Simpson, Angela, St Pourcain, Beate, Coin, Lachlan, Hui, Jennie, Walters, Eugene H., Tiesler, Carla M. T., Duffy, David L., Jones, Graham, Ring, Susan M. ... Brown, Matthew A. (2013). Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization. Nature Genetics, 45 (8), 902-906. doi: 10.1038/ng.2694

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

Cousminer D.L., Berry D.J., Timpson N.J., Ang W., Thiering E., Byrne E.M., Rob Taal H., Huikari V., Bradfield J.P., Kerkhof M., Groen-Blokhuis M.M., Kreiner-Moller E., Marinelli M., Holst C., Leinonen J.T., Perry J.R.B., Surakka I., Pietilainen O., Kettunen J., Anttila V., Kaakinen M., Sovio U., Pouta A., Das S., Lagou V., Power C., Prokopenko I., Evans D.M., Kemp J.P. ... Middeldorp, Christel (2013). Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Human Molecular Genetics, 22 (13), 2735-2747. doi: 10.1093/hmg/ddt104

Scrutiny of the CHRNA5-CHRNA3-CHRNB4 smoking behavior locus reveals a novel association with alcohol use in a Finnish population based study

Haefors, Jenni, Loukola, Anu, Pitkaeemi, Janne, Broms, Ulla, Maennistoe, Satu, Salomaa, Veikko, Helioevaara, Markku, Lehtimaeki, Terho, Raitakari, Olli, Madden, Pamela A. F., Heath, Andrew C., Montgomery, Grant W., Martin, Nicholas G., Korhonen, Tellervo and Kaprio, Jaakko (2013). Scrutiny of the CHRNA5-CHRNA3-CHRNB4 smoking behavior locus reveals a novel association with alcohol use in a Finnish population based study. International Journal of Molecular Epidemiology and Genetics, 4 (2), 109-119.

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

Fall, Tove, Hägg, Sara, Maegi, Reedik, Ploner, Alexander, Fischer, Krista, Horikoshi, Momoko, Sarin, Antti-Pekka, Thorleifsson, Gudmar, Ladenvall, Claes, Kals, Mart, Kuningas, Maris, Draisma, Harmen H. M., Ried, Janina S., van Zuydam, Natalie R., Huikari, Ville, Mangino, Massimo, Sonestedt, Emily, Benyamin, Beben, Nelson, Christopher P., Rivera, Natalia V., Kristiansson, Kati, Shen, Huei-yi, Havulinna, Aki S., Dehghan, Abbas, Donnelly, Louise A., Kaakinen, Marika, Nuotio, Marja-Liisa, Robertson, Neil, de Bruijn, Renee F. A. G. ... Prokopenko, Inga (2013). The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis. PLoS Medicine, 10 (6) e1001474, e1001474.1-e1001474.15. doi: 10.1371/journal.pmed.1001474

Genetic Loci for Retinal Arteriolar Microcirculation

Sim X., Jensen R.A., Ikram M.K., Cotch M.F., Li X., MacGregor S., Xie J., Smith A.V., Boerwinkle E., Mitchell P., Klein R., Klein B.E.K., Glazer N.L., Lumley T., McKnight B., Psaty B.M., de Jong P.T.V.M., Hofman A., Rivadeneira F., Uitterlinden A.G., van Duijn C.M., Aspelund T., Eiriksdottir G., Harris T.B., Jonasson F., Launer L.J., Attia J., Baird P.N., Harrap S. ... Wong T.Y. (2013). Genetic Loci for Retinal Arteriolar Microcirculation. PLoS ONE, 8 (6) e65804, e65804.1-e65804.12. doi: 10.1371/journal.pone.0065804

GWAS of 126,559 individuals identifies genetic variants associated with educational attainment

Rietveld, Cornelius A., Medland, Sarah E., Derringer, Jaime, Yang, Jian, Esko, Tonu, Martin, Nicolas W., Westra, Harm-Jan, Shakhbazov, Konstantin, Abdellaoui, Abdel, Agrawal, Arpana, Albrecht, Eva, Alizadeh, Behrooz Z., Amin, Najaf, Bamard, John, Baumeister, Sebastian E., Benke, Kelly S., Bielak, Lawrence F., Boatman, Jeffrey A., Boyle, Patricia A., Davies, Gail, De Leeuw, Christiaan, Eklund, Niina, Evans, Daniel S., Ferhmann, Rudolf, Fischer, Krista, Gieger, Christian, Gjessing, Hakon K., Haegg, Sara, Harris, Jennifer R. ... Koellinger, Philipp D. (2013). GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science, 340 (6139), 1467-1471. doi: 10.1126/science.1235488

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

den Hoed, Marcel, Eijgelsheim, Mark, Esko, Tonu, Brundel, Bianca J. J. M., Peal, David S., Evans, David M., Nolte, Ilja M., Segre, Ayellet V., Holm, Hilma, Handsaker, Robert E., Westra, Harm-Jan, Johnson, Toby, Isaacs, Aaron, Yang, Jian, Lundby, Alicia, Zhao, Jing Hua, Kim, Young Jin, Go, Min Jin, Almgren, Peter, Bochud, Murielle, Boucher, Gabrielle, Cornelis, Marilyn C., Gudbjartsson, Daniel, Hadley, David, van der Harst, Pim, Hayward, Caroline, den Heijer, Martin, Igl, Wilmar, Jackson, Anne U. ... Loos, Ruth J. F. (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45 (6), 621-634. doi: 10.1038/ng.2610

Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study

Yazar, Seyhan, Mishra, Aniket, Ang, Wei, Kearns, Lisa S., Mountain, Jenny A., Pennell, Craig, Montgomery, Grant W., Young, Terri L., Hammond, Christopher J., Macgregor, Stuart, Mackey, David A. and Hewitt, Alex W. (2013). Interrogation of the platelet-derived growth factor receptor alpha locus and corneal astigmatism in Australians of Northern European ancestry: results of a genome-wide association study. Molecular Vision, 19, 1238-1246.

Monozygotic twins affected with major depressive disorder have greater variance in methylation than their unaffected co-twin

Byrne, E. M., Carrillo-Roa, T., Henders, A. K., Bowdler, L., McRae, A. F., Heath, A. C., Martin, N. G., Montgomery, G. W., Krause, L. and Wray, N. R. (2013). Monozygotic twins affected with major depressive disorder have greater variance in methylation than their unaffected co-twin. Translational Psychiatry, 3 (6) e269, e269.1-e269.6. doi: 10.1038/tp.2013.45

Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits

Randall, Joshua C., Winkler, Thomas W., Kutalik, Zoltan, Berndt, Sonja I., Jackson, Anne U., Monda, Keri L., Kilpelaeinen, Tuomas O., Esko, Tonu, Maegi, Reedik, Li, Shengxu, Workalemahu, Tsegaselassie, Feitosa, Mary F., Croteau-Chonka, Damien C., Day, Felix R., Fall, Tove, Ferreira, Teresa, Gustafsson, Stefan, Locke, Adam E., Mathieson, Iain, Scherag, Andre, Vedantam, Sailaja, Wood, Andrew R., Liang, Liming, Steinthorsdottir, Valgerdur, Thorleifsson, Gudmar, Dermitzakis, Emmanouil T., Dimas, Antigone S., Karpe, Fredrik, Min, Josine L. ... MAGIC Investigators (2013). Sex-stratified Genome-wide Association Studies Including 270,000 Individuals Show Sexual Dimorphism in Genetic Loci for Anthropometric Traits. Plos Genetics, 9 (6) e1003500, e1003500.1-e1003500.19. doi: 10.1371/journal.pgen.1003500

A genome-wide association study of sleep habits and insomnia

Byrne, Enda M., Gehrman, Philip R., Medland, Sarah E., Nyholt, Dale R., Heath, Andrew C., Madden, Pamela A. F., Hickie, Ian B., Van Duijn, Cornelia M., Henders, Anjali K., Montgomery, Grant W., Martin, Nicholas G., Wray, Naomi R. and The Chronogen Consortium (2013). A genome-wide association study of sleep habits and insomnia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 162 (5), 439-451. doi: 10.1002/ajmg.b.32168

Genome-wide association study identifies loci affecting blood copper, selenium and zinc.

Evans, David M., Zhu, Gu, Dy, Veronica, Heath, Andrew C., Madden, Pamela A. F., Kemp, John P., McMahon, George, St Pourcain, Beate, Timpson, Nicholas J., Golding, Jean, Lawlor, Debbie A., Steer, Colin, Montgomery, Grant W., Martin, Nicholas G, Smith, George Davey and Whitfield, John B. (2013). Genome-wide association study identifies loci affecting blood copper, selenium and zinc.. Human Molecular Genetics, 22 (19), 3998-4006. doi: 10.1093/hmg/ddt239

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (vol 45, pg 314, 2013)

Verhoeven, Virginie J. M., Hysi, Pirro G., Wojciechowski, Robert, Fan, Qiao, Guggenheim, Jeremy A., Hoehn, Rene, MacGregor, Stuart, Hewitt, Alex W., Nag, Abhishek, Cheng, Ching-Yu, Yonova-Doing, Ekaterina, Zhou, Xin, Ikram, M. Kamran, Buitendijk, Gabrielle H. S., McMahon, George, Kemp, John P., St Pourcain, Beate, Simpson, Claire L., Makela, Kari-Matti, Lehtimaki, Terho, Kahonen, Mika, Paterson, Andrew D., Hosseini, S. Mohsen, Wong, Hoi Suen, Xu, Liang, Jonas, Jost B., Parssinen, Olavi, Wedenoja, Juho, Yip, Shea Ping ... Hammond, Christopher J. (2013). Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia (vol 45, pg 314, 2013). Nature Genetics, 45 (6), 712-712. doi: 10.1038/ng0613-712b

Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data

Powell, Joseph E., Henders, Anjali K., McRae, Allan F., Kim, Jinhee, Hemani, Gibran, Martin, Nicholas G., Dermitzakis, Emmanouil T., Gibson, Greg, Montgomery, Grant W. and Visscher, Peter M. (2013). Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data. PLoS Genetics, 9 (5) e1003502, e1003502.1-e1003502.10. doi: 10.1371/journal.pgen.1003502

Correction: Maintenance of variation in human personality: testing evolutionary models by estimating heritability due to common causal variants and investigating the effect of distant inbreeding (vol 66, pg 3238, 2012)

Verweij, K. J. H., Yang, J., Lahti, J., Veijola, J., Hintsanen, M., Pulkki-Raback, L., Heinonen, K., Pouta, A., Pesonen, A. -K., Widen, E., Taanila, A., Isohanni, M., Miettunen, J., Palotie, A., Penke, L., Service, S. K., Heath, A. C., Montgomery, G. W., Raitakari, O., Kaehoenen, M., Viikari, J., Raeikkoenen, K., Eriksson, J. G., Keltikangas-Jaervinen, L., Lehtimaeki, T., Martin, N. G., Jaervelin, M. -R., Visscher, P. M., Keller, M. C. and Zietsch, B. P. (2013). Correction: Maintenance of variation in human personality: testing evolutionary models by estimating heritability due to common causal variants and investigating the effect of distant inbreeding (vol 66, pg 3238, 2012). Evolution, 67 (5), 1537-1537. doi: 10.1111/evo.12095

Defining future directions for endometriosis research: workshop report from the 2011 World Congress of Endometriosis in Montpellier, France

Rogers, Peter A. W., D'Hooghe, Thomas M., Fazleabas, Asgerally, Giudice, Linda C., Montgomery, Grant W., Petraglia, Felice and Taylor, Robert N. (2013). Defining future directions for endometriosis research: workshop report from the 2011 World Congress of Endometriosis in Montpellier, France. Reproductive Sciences, 20 (5), 483-499. doi: 10.1177/1933719113477495

Genome-wide association study of a quantitative disordered gambling trait

Lind, Penelope A., Zhu, Gu, Montgomery, Grant W., Madden, Pamela A. F., Heath, Andrew C., Martin, Nicholas G. and Slutske, Wendy S. (2013). Genome-wide association study of a quantitative disordered gambling trait. Addiction Biology, 18 (3), 511-522. doi: 10.1111/j.1369-1600.2012.00463.x

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Berndt, Sonja I., Gustafsson, Stefan, Maegi, Reedik, Ganna, Andrea, Wheeler, Eleanor, Feitosa, Mary F., Justice, Anne E., Monda, Keri L., Croteau-Chonka, Damien C., Day, Felix R., Esko, Tonu, Fall, Tove, Ferreira, Teresa, Gentilini, Davide, Jackson, Anne U., Luan, Jian'an, Randall, Joshua C., Vedantam, Sailaja, Willer, Cristen J., Winkler, Thomas W., Wood, Andrew R., Workalemahu, Tsegaselassie, Hu, Yi-Juan, Lee, Sang Hong, Liang, Liming, Lin, Dan-Yu, Min, Josine L., Neale, Benjamin M., Thorleifsson, Gudmar ... Ingelsson, Erik (2013). Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Nature Genetics, 45 (5), 501-U69. doi: 10.1038/ng.2606

No association between general cognitive ability and rare copy number variation

McRae, Allan F., Wright, Margaret J., Hansell, Narelle K., Montgomery, Grant W. and Martin, Nicholas G. (2013). No association between general cognitive ability and rare copy number variation. Behavior Genetics, 43 (3), 202-207. doi: 10.1007/s10519-013-9587-9

A genome-wide association study of early menopause and the combined impact of identified variants

Perry, John R. B., Corre, Tanguy, Esko, Tonu, Chasman, Daniel I., Fischer, Krista, Franceschini, Nora, He, Chunyan, Kutalik, Zoltan, Mangino, Massimo, Rose, Lynda M., Smith, Albert Vernon, Stolk, Lisette, Sulem, Patrick, Weedon, Michael N., Zhuang, Wei V., Arnold, Alice, Ashworth, Alan, Bergmann, Sven, Buring, Julie E., Burri, Andrea, Chen, Constance, Cornelis, Marilyn C., Couper, David J., Goodarzi, Mark O., Gudnason, Vilmundur, Harris, Tamara, Hofman, Albert, Jones, Michael, Kraft, Peter ... Murray, Anna (2013). A genome-wide association study of early menopause and the combined impact of identified variants. Human Molecular Genetics, 22 (7) dds551, 1465-1472. doi: 10.1093/hmg/dds551

A mega-analysis of genome-wide association studies for major depressive disorder

Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, Wray, Naomi, Byrne, Enda M., Martin, Nicholas G., Gordon, Scott D., Henders, Anjali K., Montgomery, Grant M., Nyholt, Dale R. and Middeldorp, Christel M. (2013). A mega-analysis of genome-wide association studies for major depressive disorder. Molecular Psychiatry, 18 (4), 497-511. doi: 10.1038/mp.2012.21

Metabolic and biochemical effects of low-to-moderate alcohol consumption

Whitfield, John B., Heath, Andrew C., Madden, Pamela A. F., Pergadia, Michele L., Montgomery, Grant W. and Martin, Nicholas G. (2013). Metabolic and biochemical effects of low-to-moderate alcohol consumption. Alcoholism: Clinical and Experimental Research, 37 (4), 575-586. doi: 10.1111/acer.12015

NRAS and BRAF mutations in cutaneous melanoma and the association with MC1R genotype: findings from spanish and austrian populations

Hacker, Elke, Nagore, Eduardo, Cerroni, Lorenzo, Woods, Susan L., Hayward, Nicholas K., Chapman, Brett, Montgomery, Grant W., Soyer, H. Peter and Whiteman, David C. (2013). NRAS and BRAF mutations in cutaneous melanoma and the association with MC1R genotype: findings from spanish and austrian populations. Journal of Investigative Dermatology, 133 (4), 1027-1033. doi: 10.1038/jid.2012.385

Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity

Jahanshad, Neda, Rajagopalan, Priya, Hua, Xue, Hibar, Derrek P., Nir, Talia M., Toga, Arthur W., Jack, Jr, Clifford R., Saykin, Andrew J., Green, Robert C., Weiner, Michael W., Medland, Sarah E., Montgomery, Grant W., Hansell, Narelle K., McMahon, Katie L., de Zubicaray, Greig I., Martin, Nicholas G., Wright, Margaret J., Thompson, Paul M. and The Alzheimer’s Disease Neuroimaging Initiative (2013). Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. Proceedings of the National Academy of Sciences of the United States of America, 110 (12), 4768-4773. doi: 10.1073/pnas.1216206110

Correction: Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA (PLoS ONE)

Ramasamy, Adaikalavan, Kuokkanen, Mikko, Vedantam, Sailaja, Gajdos, Zofia K., Alves, Alexessander Couto, Lyon, Helen N., Ferreira, Manuel A. R., Strachan, David P., Zhao, Jing Hua, Abramson, Michael J., Brown, Matthew A., Coin, Lachlan, Dharmage, Shyamali C., Duffy, David L., Haahtela, Tari, Heath, Andrew C., Janson, Christer, Kähönen, Mika, Khaw, Kay-Tee, Laitinen, Jaana, Souef, Peter Le, Lehtimäki, Terho, Madden, Pamela A. F., Marks, Guy B., Martin, Nicholas G., Matheson, Melanie C., Palmer, Cameron D., Palotie, Aarno, Pouta, Anneli ... Hirschhorn, Joel N. (2013). Correction: Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA (PLoS ONE). PLoS ONE, 8 (3), 1-1. doi: 10.1371/annotation/9630862b-4676-4b82-9869-8d8fbb2a2e65

ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure

Nelson, Elliot C., Lynskey, Michael T., Heath, Andrew C., Wray, Naomi, Agrawal, Arpana, Shand, Fiona L., Henders, Anjali K., Wallace, Leanne, Todorov, Alexandre A., Schrage, Andrew J., Saccone, Nancy L., Madden, Pamela A. F., Degenhardt, Louisa, Martin, Nicholas G. and Montgomery, Grant W. (2013). ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure. JAMA Psychiatry, 70 (3), 325-333. doi: 10.1001/jamapsychiatry.2013.282

Examining the association of NRXN3 SNPs with borderline personality disorder phenotypes in heroin dependent cases and socio-economically disadvantaged controls

Panagopoulos, Vassilis N., Trull, Timothy J., Glowinski, Anne L., Lynskey, Michael T., Heath, Andrew C., Agrawal, Arpana, Henders, Anjali K., Wallace, Leanne, Todorov, Alexandre A., Madden, Pamela A. F., Moore, Elizabeth, Degenhardt, Louisa, Martin, Nicholas G., Montgomery, Grant W. and Nelson, Elliot C. (2013). Examining the association of NRXN3 SNPs with borderline personality disorder phenotypes in heroin dependent cases and socio-economically disadvantaged controls. Drug and Alcohol Dependence, 128 (3), 187-193. doi: 10.1016/j.drugalcdep.2012.11.011

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Verhoeven V.J.M., Hysi P.G., Wojciechowski R., Fan Q., Guggenheim J.A., Hohn R., Macgregor S., Hewitt A.W., Nag A., Cheng C.-Y., Yonova-Doing E., Zhou X., Ikram M.K., Buitendijk G.H.S., Mcmahon G., Kemp J.P., Pourcain B.S., Simpson C.L., Makela K.-M., Lehtimaki T., Kahonen M., Paterson A.D., Hosseini S.M., Wong H.S., Xu L., Jonas J.B., Parssinen O., Wedenoja J., Yip S.P. ... Hammond C.J. (2013). Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nature Genetics, 45 (3), 314-318. doi: 10.1038/ng.2554

Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts

Vimaleswaran, Karani S., Berry, Diane J., Lu, Chen, Tikkanen, Emmi, Pilz, Stefan, Hiraki, Linda T., Cooper, Jason D., Dastani, Zari, Li, Rui, Houston, Denise K., Wood, Andrew R., Michaëlsson, Karl, Vandenput, Liesbeth, Zgaga, Lina, Yerges-Armstrong, Laura M., McCarthy, Mark I., Dupuis, Josée, Kaakinen, Marika, Kleber, Marcus E., Jameson, Karen, Arden, Nigel, Raitakari, Olli, Viikari, Jorma, Lohman, Kurt K., Ferrucci, Luigi, Melhus, Håkan, Ingelsson, Erik, Byberg, Liisa, Lind, Lars ... Hirschhorn, J. N. (2013). Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts. PLoS Medicine, 10 (2) e1001383, e1001383. doi: 10.1371/journal.pmed.1001383

Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis

Lee, S. Hong, Harold, Denise, Nyholt, Dale R., ANZGene Consortium, International Endogene Consortium, Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium, Goddard, Michael E., Zondervan, Krina T., Williams, Julie, Montgomery, Grant W., Wray, Naomi R. and Visscher, Peter M. (2013). Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Human Molecular Genetics, 22 (4) dds491, 832-841. doi: 10.1093/hmg/dds491

Genetic susceptibility in IBD: overlap between ulcerative colitis and Crohn's disease

Doecke, James D., Simms, Lisa A., Zhao, Zhen Zhen, Huang, Ning, Hanigan, Katherine, Krishnaprasad, Krupa, Roberts, Rebecca L., Andrews, Jane M., Mahy, Gillian, Bampton, Peter, Lewindon, Peter, Florin, Timothy, Lawrance, Ian C., Gearry, Richard B., Montgomery, Grant W. and Radford-Smith, Graham L. (2013). Genetic susceptibility in IBD: overlap between ulcerative colitis and Crohn's disease. Inflammatory Bowel Diseases, 19 (2), 240-245. doi: 10.1097/MIB.0b013e3182810041

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

Koettgen, Anna, Albrecht, Eva, Teumer, Alexander, Vitart, Veronique, Krumsiek, Jan, Hundertmark, Claudia, Pistis, Giorgio, Ruggiero, Daniela, O'Seaghdha, Conall M., Haller, Toomas, Yang, Qiong, Tanaka, Toshiko, Johnson, Andrew D., Kutalik, Zoltan, Smith, Albert V., Shi, Julia, Struchalin, Maksim, Middelberg, Rita P. S., Brown, Morris J., Gaffo, Angelo L., Pirastu, Nicola, Li, Guo, Hayward, Caroline, Zemunik, Tatijana, Huffman, Jennifer, Yengo, Loic, Zhao, Jing Hua, Demirkan, Ayse, Feitosa, Mary F. ... Gieger, Christian (2013). Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nature Genetics, 45 (2), 145-154. doi: 10.1038/ng.2500

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

Lu, Yi, Vitart, Veronique, Burdon, Kathryn P., Khor, Chiea Chuen, Bykhovskaya, Yelena, Mirshahi, Alireza, Hewitt, Alex W., Koehn, Demelza, Hysi, Pirro G., Ramdas, Wishal D., Zeller, Tanja, Vithana, Eranga N., Cornes, Belinda K., Tay, Wan-Ting, Tai, E. Shyong, Cheng, Ching-Yu, Liu, Jianjun, Foo, Jia-Nee, Saw, Seang Mei, Thorleifsson, Gudmar, Stefansson, Kari, Dimasi, David P., Mills, Richard A., Mountain, Jenny, Ang, Wei, Hoehn, Rene, Verhoeven, Virginie J. M., Grus, Franz, Wolfs, Roger ... Wong, Tien Y. (2013). Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nature Genetics, 45 (2), 155-163. doi: 10.1038/ng.2506

Identification of a candidate gene for astigmatism

Lopes, Margarida C., Hysi, Pirro G., Verhoeven, Virginie J. M., Macgregor, Stuart, Hewitt, Alex W., Montgomery, Grant W., Cumberland, Phillippa, Vingerling, Johannes R., Young, Terri L., van Duijn, Cornelia M., Oostra, Ben, Uitterlinden, Andre G., Rahi, Jugnoo S., Mackey, David A., Klaver, Caroline C. W., Andrew, Toby and Hammond, Christopher J. (2013). Identification of a candidate gene for astigmatism. Investigative Ophthalmology and Visual Science, 54 (2), 1260-1267. doi: 10.1167/iovs.12-10463

A genome-wide association study for reading and language abilities in two population cohorts

Luciano, M., Evans, D. M., Hansell, N. K., Medland, S. E., Montgomery, G. W., Martin, N. G., Wright, M. J. and Bates, T. C. (2013). A genome-wide association study for reading and language abilities in two population cohorts. Genes, Brain and Behavior, 12 (6), 645-652. doi: 10.1111/gbb.12053

Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk

Liu H., Wang L.-E., Liu Z., Chen W.V., Amos C.I., Lee J.E., Iles M.M., Law M.H., Barrett J.H., Montgomery G.W., Taylor J.C., Macgregor S., Cust A.E., Bishop J.A.N., Hayward N.K., Bishop D.T., Mann G.J., Affleck P. and Wei Q. (2013). Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk. Carcinogenesis, 34 (4), 885-892. doi: 10.1093/carcin/bgs407

Association between putative functional variants in the PSMB9 gene and risk of melanoma - re-analysis of published melanoma genome-wide association studies

Qian, J., Liu, H., Wei, S., Liu, Z., Li,Y., Wang, L..-E., Chen, W.V., Amos, C.I., Lee, J.E., Iles, M.M., Law, M.H., Cust, A.E., Barrett, J.H., Montgomery, G.W., Taylor, J., Bishop, J.A.N., Macgregor, S., Bishop, D.T., Mann, G.J., Hayward, N.K. and Wei, Q. (2013). Association between putative functional variants in the PSMB9 gene and risk of melanoma - re-analysis of published melanoma genome-wide association studies. Pigment Cell and Melanoma Research, 26 (3), 392-401. doi: 10.1111/pcmr.12069

Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36

Luong, Hien T. T., Painter, Jodie N., Shakhbazov, Konstantin, Chapman, Brett, Henders, Anjali K., Powell, Joseph E, Nyholt, Dale R. and Montgomery, Grant W. (2013). Fine mapping of variants associated with endometriosis in the WNT4 region on chromosome 1p36. International Journal of Molecular Epidemiology and Genetics, 4 (4), 193-206.

Genetic and nongenetic variation revealed for the principal components of human gene expression

Goldinger, Anita, Henders, Anjali K., McRae, Allan F., Martin, Nicholas G., Gibson, Greg, Montgomery, Grant W., Visscher, Peter M. and Powell, Joseph E. (2013). Genetic and nongenetic variation revealed for the principal components of human gene expression. Genetics, 195 (3), 1117-1128. doi: 10.1534/genetics.113.153221

Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects

Hibar, Derrek P., Stein, Jason L., Ryles, April B., Kohannim, Omid, Jahanshad, Neda, Medland, Sarah E., Hansell, Narelle K., McMahon, Katie L., de Zubicaray, Greig I., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J., Saykin, Andrew J., Jack, lifford R., Weiner, Michael W., Toga, Arthur W. and Thompson, Paul M. (2013). Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N = 1345 young and elderly subjects. Brain Imaging and Behavior, 7 (2), 102-115. doi: 10.1007/s11682-012-9199-7

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Garcia-Closas M., Couch F.J., Lindstrom S., Michailidou K., Schmidt M.K., Brook M.N., Orr N., Rhie S.K., Riboli E., Feigelson H.S., Le Marchand L., Buring J.E., Eccles D., Miron P., Fasching P.A., Brauch H., Chang-Claude J., Carpenter J., Godwin A.K., Nevanlinna H., Giles G.G., Cox A., Hopper J.L., Bolla M.K., Wang Q., Dennis J., Dicks E., Howat W.J., Schoof N. ... Kraft P. (2013). Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nature Genetics, 45 (4), 392-398. doi: 10.1038/ng.2561

Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits

Ebejer, Jane L., Duffy, David L., van der Werf, Julius, Wright, Margaret J., Montgomery, Grant, Gillespie, Nathan A., Hickie, Ian B., Martin, Nicholas G. and Medland, Sarah E. (2013). Genome-wide association study of inattention and hyperactivity-impulsivity measured as quantitative traits. Twin Research and Human Genetics, 16 (2), 560-574. doi: 10.1017/thg.2013.12

Genome-wide meta-analysis identifies new susceptibility loci for migraine

Anttila, Verneri, Winsvold, Bendik S., Gormley, Padhraig, Kurth, tobias, Bettella, Francesco, McMahon, george, Kallela, mikko, Malik, Rainer, De Vries, Boukje, Terwindt, Gisela, Medland, Sarah E., Todt, Unda, McArdle, Wendy L., Quaye, Lydia, Koiranen, Markku, Ikram, M. Arfan, Lehtimaki, Terho, Stam, Anine H., Ligthart, Lannie, Wedenoja, Juho, Dunham, Ian, Neale, Benjamin M., Palta, Priit, Hamalainen, Eija, Schurks, Markus, Rose, Lynda M., Buring, Julie E., Ridker, Paul M., Steinberg, Stacy ... Palotie, Aarno (2013). Genome-wide meta-analysis identifies new susceptibility loci for migraine. Nature Genetics, 45 (8), 912-917. doi: 10.1038/ng.2676

Identification of seven loci affecting mean telomere length and their association with disease

Codd, Veryan, Nelson, Christopher P., Albrecht, Eva, Mangino, Massimo, Deelen, Joris, Buxton, Jessica L., Hottenga, Jouke Jan, Fischer, Krista, Esko, Tonu, Surakka, Ida, Broer, Linda, Nyholt, Dale R., Leach, Irene Mateo, Salo, Perttu, Hagg, Sara, Matthews, Mary K., Palmen, Jutta, Norata, Giuseppe D., O'Reilly, Paul F., Saleheen, Danish, Amin, Najaf, Balmforth, Anthony J., Beekman, Marian, de Boer, Rudolf A., Bohringer, Stefan, Braund, Peter S., Burton, Paul R., de Craen, Anton J. M., Denniff, Matthew ... Samani, Nilesh J. (2013). Identification of seven loci affecting mean telomere length and their association with disease. Nature Genetics, 45 (4), 422-427. doi: 10.1038/ng.2528

Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect

Broer, Linda, Codd, Veryan, Nyholt, Dale R., Deelen, Joris, Mangino, Massimo, Willemsen, Gonneke, Albrecht, Eva, Amin, Najaf, Beekman, Marian, de Geus, Eco J. C., Henders, Anjali, Nelson, Christopher P., Steves, Claire J., Wright, Margie J., de Craen, Anton J. M., Isaacs, Aaron, Matthews, Mary, Moayyeri, Alireza, Montgomery, Grant W., Oostra, Ben A., Vink, Jacqueline M., Spector, Tim D., Slagboom, P. Eline, Martin, Nicholas G., Samani, Nilesh J., van Duijn, Cornelia M. and Boomsma, Dorret I. (2013). Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect. European Journal of Human Genetics, 21 (10), 1163-1168. doi: 10.1038/ejhg.2012.303

Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates

Evans, David M., Brion, Marie Jo A., Paternoster, Lavinia, Kemp, John P., McMahon, George, Munafo, Marcus, Whitfield, John B., Medland, Sarah E., Montgomery, Grant W., The GIANT consortium, The CRP consortium, The TAG Consortium, Timpson, Nicholas J., St. Pourcain, Beate, Lawlor, Debbie A., Martin, Nicholas G., Dehghan, Abbas, Hirschhorn, Joel and Davey Smith, George (2013). Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates. PLoS Genetics, 9 (10) e1003919, e1003919.1-e1003919.15. doi: 10.1371/journal.pgen.1003919

Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions

Amin, Najaf, Hottenga, Jouke-Jan, Hansell, Narelle K., Janssens, A. Cecile J. W., de Moor, Marleen H. M., Madden, Pamela A. F., Zorkoltseva, Irina V., Penninx, Brenda W., Terracciano, Antonio, Uda, Manuela, Tanaka, Toshiko, Esko, Tonu, Realo, Anu, Ferrucci, Luigi, Luciano, Michelle, Davies, Gail, Metspalu, Andres, Abecasis, Goncalo R., Deary, Ian J., Raikkonen, Katri, Bierut, Laura J., Costa, Paul T., Saviouk, Viatcheslav, Zhu, Gu, Kirichenko, Anatoly V., Isaacs, Aaron, Aulchenko, Yurii S., Willemsen, Gonneke, Heath, Andrew C. ... van Duijn, Cornelia M. (2013). Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions. European Journal of Human Genetics, 21 (8), 876-882. doi: 10.1038/ejhg.2012.263

Ribosomal protein S6 mRNA is a biomarker upregulated in multiple sclerosis, downregulated by interferon treatment, and affected by season

Parnell, Grant P., Gatt, Prudence N., McKay, Fiona C., Schibeci, Stephen, Krupa, Malgorzata, Powell, Joseph E., Visscher, Peter M., Montgomery, Grant W., Lechner-Scott, Jeannette, Broadley, Simon, Liddle, Christopher, Slee, Mark, Vucic, Steve, Stewart, Graeme J. and Booth, David R. (2013). Ribosomal protein S6 mRNA is a biomarker upregulated in multiple sclerosis, downregulated by interferon treatment, and affected by season. Multiple Sclerosis, 20 (6), 675-685. doi: 10.1177/1352458513507819

A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11

Siddiq, Afshan, Couch, Fergus J., Chen, Gary K., Lindstrom, Sara, Eccles, Diana, Millikan, Robert C., Michailidou, Kyriaki, Stram, Daniel O., Beckmann, Lars, Rhie, Suhn Kyong, Ambrosone, Christine B., Aittomaki, Kristiina, Amiano, Pilar, Apicella, Carmel, Baglietto, Laura, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl, Brauch, Hiltrud, Brinton, Louise, Bui, Quang M., Buring, Julie E., Buys, Saundra S., Campa, Daniele, Carpenter, Jane E., Chasman, Daniel I., Chang-Claude, Jenny ... Vachon, Celine M. (2012). A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. Human Molecular Genetics, 21 (24), 5373-5384. doi: 10.1093/hmg/dds381

Pathway analysis of smoking quantity in multiple GWAS identifies cholinergic and sensory pathways

Harari, Oscar, Wang, Jen-Chyong, Bucholz, Kathleen, Edenberg, Howard J., Heath, Andrew, Martin, Nicholas G., Pergadia, Michele L., Montgomery, Grant, Schrage, Andrew, Bierut, Laura J., Madden, Pamela F. and Goate, Alison M. (2012). Pathway analysis of smoking quantity in multiple GWAS identifies cholinergic and sensory pathways. Plos One, 7 (12) e50913, e50913. doi: 10.1371/journal.pone.0050913

Association between in vivo alcohol metabolism and genetic variation in pathways that metabolize the carbon skeleton of ethanol and NADH reoxidation in the Alcohol Challenge Twin Study

Lind, Penelope A., Macgregor, Stuart, Heath, Andrew C., Madden, Pamela A. F., Montgomery, Grant W., Martin, Nicholas G. and Whitfield, John B. (2012). Association between in vivo alcohol metabolism and genetic variation in pathways that metabolize the carbon skeleton of ethanol and NADH reoxidation in the Alcohol Challenge Twin Study. Alcoholism: Clinical and Experimental Research, 36 (12), 2074-2085. doi: 10.1111/j.1530-0277.2012.01829.x

Genome-wide association meta-analysis identifies new endometriosis risk loci

Nyholt, Dale R., Low, Siew-Kee, Anderson, Carl A., Painter, Jodie N., Uno, Satoko, Morris, Andrew P., MacGregor, Stuart, Gordon, Scott D., Henders, Anjali K., Martin, Nicholas G., Attia, John, Holliday, Elizabeth G., McEvoy, Mark, Scott, Rodney J., Kennedy, Stephen H., Treloar, Susan A., Missmer, Stacey A., Adachi, Sosuke, Tanaka, Kenichi, Nakamura, Yusuke, Zondervan, Krina T., Zembutsu, Hitoshi and Montgomery, Grant W. (2012). Genome-wide association meta-analysis identifies new endometriosis risk loci. Nature Genetics, 44 (12), 1355-1359. doi: 10.1038/ng.2445

No evidence for genetic association with the let-7 microRNA-binding site or other common KRAS variants in risk of endometriosis

Luong, Hien T. T., Nyholt, Dale R., Painter, Jodie N., Chapman, Brett, Kennedy, Stephen, Treloar, Susan A., Zondervan, Krina T. and Montgomery, Grant W. (2012). No evidence for genetic association with the let-7 microRNA-binding site or other common KRAS variants in risk of endometriosis. Human Reproduction, 27 (12), 3616-3621. doi: 10.1093/humrep/des329

Seventy-five genetic loci influencing the human red blood cell

van der Harst, Pim, Zhang, Weihua, Leach, Irene Mateo, Rendon, Augusto, Verweij, Niek, Sehmi, Joban, Paul, Dirk S., Elling, Ulrich, Allayee, Hooman, Li, Xinzhong, Radhakrishnan, Aparna, Tan, Sian-Tsung, Voss, Katrin, Weichenberger, Christian X., Albers, Cornelis A., Al-Hussani, Abtehale, Asselbergs, Folkert W., Ciullo, Marina, Danjou, Fabrice, Dina, Christian, Esko, Tonu, Evans, David M., Franke, Lude, Goegele, Martin, Hartiala, Jaana, Hersch, Micha, Holm, Hilma, Hottenga, Jouke-Jan, Kanoni, Stavroula ... Chambers, John C. (2012). Seventy-five genetic loci influencing the human red blood cell. Nature, 492 (7429), 369-375. doi: 10.1038/nature11677

Neuropeptide Y (NPY): Genetic Variation in the Human Promoter Alters Glucocorticoid Signaling, Yielding Increased NPY Secretion and Stress Responses (vol 60, pg 1678, 2012)

Zhang, K., Rao, F., Miramontes-Gonzalez, J. P., Hightower, C. M., Vaught, B., Chen, Y., Greenwood, T. A., Schork, A. J., Wang, L., Mahata, M., Stridsberg, M., Khandrika, S., Biswas, N., Fung, M. M., Waalen, J., Middelberg, R. P., Heath, A. C., Montgomery, G. W., Martin, N. G., Whitfield, J. B., Baker, D. G., Schork, N. J., Nievergelt, C. M. and O'Connor, D. T. (2012). Neuropeptide Y (NPY): Genetic Variation in the Human Promoter Alters Glucocorticoid Signaling, Yielding Increased NPY Secretion and Stress Responses (vol 60, pg 1678, 2012). Journal of the American College of Cardiology, 60 (21), 2261-2261. doi: 10.1016/j.jacc.2012.10.002

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci

Asselbergs, Folkert W., Guo, Yiran, van Iperen, Erik P. A., Sivapalaratnam, Suthesh, Tragante, Vinicius, Lanktree, Matthew B., Lange, Leslie A., Almoguera, Berta, Appelman, Yolande E., Barnard, John, Baumert, Jens, Beitelshees, Amber L., Bhangale, Tushar R., Chen, Yii-Der Ida, Gaunt, Tom R., Gong, Yan, Hopewell, Jemma C., Johnson, Toby, Kleber, Marcus E., Langaee, Taimour Y., Li, Mingyao, Li, Yun R., Liu, Kiang, McDonough, Caitrin W., Meijs, Matthijs El., Middelberg, Rita P. S., Musunuru, Kiran, Nelson, Christopher P., O'Connell, Jeffery R. ... Drenos, Fotios (2012). Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. American Journal of Human Genetics, 91 (5), 823-838. doi: 10.1016/j.ajhg.2012.08.032

Genome-wide meta-analysis of common variant differences between men and women

Boraska, Vesna, Jeroncic, Ana, Colonna, Vincenza, Southam, Lorraine, Nyholt, Dale R., Rayner, Nigel William, Perry, John R. B., Toniolo, Daniela, Albrecht, Eva, Ang, Wei, Bandinelli, Stefania, Barbalic, Maja, Barroso, Ines, Beckmann, Jacques S., Biffar, Reiner, Boomsma, Dorret, Campbell, Harry, Corre, Tanguy, Erdmann, Jeanette, Esko, Tonu, Fischer, Krista, Franceschini, Nora, Frayling, Timothy M., Girotto, Giorgia, Gonzalez, Juan R., Harris, Tamara B., Heath, Andrew C., Heid, Iris M., Hoffmann, Wolfgang ... Zeggini, Eleftheria (2012). Genome-wide meta-analysis of common variant differences between men and women. Human Molecular Genetics, 21 (21) dds304, 4805-4815. doi: 10.1093/hmg/dds304

Neuropeptide Y (NPY): genetic variation in the human promoter alters glucocorticoid signaling, yielding increased NPY secretion and stress responses

Zhang, Kuixing, Rao, Fangwen, Miramontes-Gonzalez, Jose Pablo, Hightower, C. Makena, Vaught, Brian, Chen, Yuhong, Greenwood, Tiffany A., Schork, Andrew J., Wang, Lei, Mahata, Manjula, Stridsberg, Mats, Khandrika, Srikrishna, Biswas, Nilima, Fung, Maple M., Waalen, Jill, Middelberg, Rita P., Heath, Andrew C., Montgomery, Grant W., Martin, Nicholas G., Whitfield, John B., Baker, Dewleen G., Schork, Nicholas J., Nievergelt, Caroline M. and O'Connor, Daniel T. (2012). Neuropeptide Y (NPY): genetic variation in the human promoter alters glucocorticoid signaling, yielding increased NPY secretion and stress responses. Journal of the American College of Cardiology, 60 (17), 1678-1689. doi: 10.1016/j.jacc.2012.06.042

Genome-wide linkage and association analyses implicate FASN in predisposition to uterine leiomyomata

Eggert, Stacey L., Huyck, Karen L., Somasundaram, Priya, Kavalla, Raghava, Stewart, Elizabeth A., Lu, Ake T., Painter, Jodie N., Montgomery, Grant W., Medland, Sarah E., Nyholt, Dale R., Treloar, Susan A., Zondervan, Krina T., Heath, Andrew C., Madden, Pamela A. F., Rose, Lynda, Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Martin, Nicholas G., Cantor, Rita M. and Morton, Cynthia C. (2012). Genome-wide linkage and association analyses implicate FASN in predisposition to uterine leiomyomata. American Journal of Human Genetics, 91 (4), 621-628. doi: 10.1016/j.ajhg.2012.08.009

A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol

Surakka, Ida, Whitfield, John B., Perola, Markus, Visscher, Peter M., Montgomery, Grant W., Falchi, Mario, Willemsen, Gonneke, de Geus, Eco J. C., Magnusson, Patrik K. E., Christensen, Kaare, Sorensen, Thorild I. A., Pietilainen, Kirsi H., Rantanen, Taina, Silander, Kaisa, Widen, Elisabeth, Muilu, Juhu, Rahman, Iffat, Liljedahl, Ulrika, Syvanen, Ann-Christine, Palotie, Aarno, Kaprio, Jaakko, Kyvik, Kirsten O., Pedersen, Nancy L., Boomsma, Dorret I., Spector, Tim, Martin, Nicolas G., Ripatti, Samuli and Peltonen, Leena (2012). A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol. Twin Research and Human Genetics, 15 (6), 691-699. doi: 10.1017/thg.2012.63

Genetic variants near PDGFRA are associated with corneal curvature in Australians

Mishra, Aniket, Yazar, Seyhan, Hewitt, Alex W., Mountain, Jenny A., Ang, Wei, Pennell, Craig E., Martin, Nicholas G., Montgomery, Grant W., Hammond, Christopher J., Young, Terri L., Macgregor, Stuart and Mackey, David A. (2012). Genetic variants near PDGFRA are associated with corneal curvature in Australians. Investigative Ophthalmology and Visual Science, 53 (11), 7131-7136. doi: 10.1167/iovs.12-10489

Maintenance of genetic variation in human personality: testing evolutionary models by estimating heritability due to common causal variants and investigating the effect of distant inbreeding

Verweij, Karin J. H., Yang, Jian, Lahti, Jari, Veijola, Juha, Hintsanen, Mirka, Pulkki-Raback, Laura, Heinonen, Kati, Pouta, Anneli, Pesonen, Anu-Katriina, Widen, Elisabeth, Taanila, Anja, Isohanni, Matti, Miettunen, Jouko, Palotie, Aarno, Penke, Lars, Service, Susan K., Heath, Andrew C., Montgomery, Grant W., Raitakari, Olli, Kahonen, Mika, Viikari, Jorma, Raikkonen, Katri, Eriksson, Johan G., Keltikangas-Jarvinen, Liisa, Lehtimaki, Terho, Martin, Nicholas G., Jarvelin, Marjo-Riitta, Visscher, Peter M., Keller, Matthew C. and Zietsch, Brendan P. (2012). Maintenance of genetic variation in human personality: testing evolutionary models by estimating heritability due to common causal variants and investigating the effect of distant inbreeding. Evolution, 66 (10), 3238-3251. doi: 10.1111/j.1558-5646.2012.01679.x

FTO genotype is associated with phenotypic variability of body mass index

Yang, Jian, Loos, Ruth J., Powell, Joseph E., Medland, Sarah E, Speliotes, Elizabeth K., Chasman, Daniel I., Rose, Lynda M., Thorleifsson, Gudmar, Steinthorsdottir, Valgerdur, Magi, Reedik, Waite, Lindsay, Vernon Smith, Albert, Yerges-Armstrong, Laura M., Monda, Keri L., Hadley, David, Mahajan, Anubha, Li, Guo, Kapur, Karen, Vitart, Veronique, Huffman, Jennifer E., Wang, Sophie R., Palmer, Cameron, Esko, To˜nu, Fischer, Krista, Hua Zhao, Jing, Demirkan, Ayse, Isaacs, Aaron, Feitosa, Mary F., Luan, Jian’an ... Visscher, Peter (2012). FTO genotype is associated with phenotypic variability of body mass index. Nature, 490 (7419), 267-272. doi: 10.1038/nature11401

A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans

Liu, Fan, van der Lijn, Fedde, Schurmann, Claudia, Zhu, Gu, Chakravarty, M. Mallar, Hysi, Pirro G., Wollstein, Andreas, Lao, Oscar, de Bruijne, Marleen, Ikram, M. Arfan, van der Lugt, Aad, Rivadeneira, Fernando, Uitterlinden, Andre G., Hofman, Albert, Niessen, Wiro J., Homuth, Georg, de Zubicaray, Greig, McMahon, Katie L., Thompson, Paul M., Daboul, Amro, Puls, Ralf, Hegenscheid, Katrin, Bevan, Liisa, Pausova, Zdenka, Medland, Sarah E., Montgomery, Grant W., Wright, Margaret J., Wicking, Carol A., Boehringer, Stefan ... Kayser, Manfred for the International Visible Trait Genetics (VisiGen) Consortium (2012). A Genome-Wide Association Study Identifies Five Loci Influencing Facial Morphology in Europeans. PLoS Genetics, 8 (9) e1002932, e1002932.1-e1002932.13. doi: 10.1371/journal.pgen.1002932

Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

Ramasamy, Adaikalavan, Kuokkanen, Mikko, Vedantam, Sailaja, Gajdos, Zofia K., Alves, Alexessander Couto, Lyon, Helen N., Ferreira, Manuel A. R., Strachan, David P., Zhao, Jing Hua, Abramson, Michael J., Brown, Matthew A., Coin, Lachlan, Dharmage, Shyamali C., Duffy, David L., Haahtela, Tari, Heath, Andrew C., Janson, Christer, Kahonen, Mika, Khaw, Kay-Tee, Laitinen, Jaana, Le Souef, Peter, Lehtimaki, Terho, Madden, Pamela A. F., Marks, Guy B., Martin, Nicholas G., Matheson, Melanie C., Palmer, Cameron D., Palotie, Aarno, Pouta, Anneli ... Hirschhorn, Joel N. (2012). Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA. PLoS One, 7 (9 Article No. e44008) e44008, e44008-1-e44008-10. doi: 10.1371/journal.pone.0044008

Genome-wide association uncovers shared genetic effects among personality traits and mood states

Luciano, Michelle, Huffman, Jennifer E., Arias-Vasquez, Alejandro, Vinkhuyzen, Anna A. E., Middeldorp, Christel M., Giegling, Ina, Payton, Antony, Davies, Gail, Zgaga, Lina, Janzing, Joost, Ke, Xiayi, Galesloot, Tessel, Hartmann, Annette M., Ollier, William, Tenesa, Albert, Hayward, Caroline, Verhagen, Maaike, Montgomery, Grant W., Hottenga, Jouke-Jan, Konte, Bettina, Starr, John M., Vitart, Veronique, Vos, Pieter E., Madden, Pamela A. F., Willemsen, Gonneke, Konnerth, Heike, Horan, Michael A., Porteous, David J., Campbell, Harry ... Deary, Ian J. (2012). Genome-wide association uncovers shared genetic effects among personality traits and mood states. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B (6), 684-695. doi: 10.1002/ajmg.b.32072

Insights into assessing the genetics of endometriosis

Rahmioglu, Nilufer, Missmer, Stacey A., Montgomery, Grant W. and Zondervan, Krina T. (2012). Insights into assessing the genetics of endometriosis. Current Obstetrics and Gynecology Reports, 1 (3), 124-137. doi: 10.1007/s13669-012-0016-5

Oncogenic PIK3CA mutations in colorectal cancers and polyps

Whitehall, Vicki L. J., Rickman, Celestine, Bond, Catherine E., Ramsnes, Ingunn, Greco, Sonia A., Umapathy, Aarti, McKeone, Diane, Faleiro, Rebecca J., Buttenshaw, Ron L., Worthley, Daniel L., Nayler, Sam, Zhao, Zhen Zhen, Montgomery, Grant W., Mallitt, Kylie-Ann, Jass, Jeremy R., Matsubara, Nagahide, Notohara, Kenji, Ishii, Tatsuhiro and Leggett, Barbara A. (2012). Oncogenic PIK3CA mutations in colorectal cancers and polyps. International Journal of Cancer, 131 (4), 813-820. doi: 10.1002/ijc.26440

Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers

Hartz, Sarah M., Short, Susan E., Saccone, Nancy L., Culverhouse, Robert, Chen, LiShiun, Schwantes-An, Tae-Hwi, Coon, Hilary, Han, Younghun, Stephens, Sarah H., Sun, Juzhong, Chen, Xiangning, Ducci, Francesca, Dueker, Nicole, Franceschini, Nora, Frank, Josef, Geller, Frank, Guobjartsson, Daniel, Hansel, Nadia N., Jiang, Chenhui, Keskitalo-Vuokko, Kaisu, Liu, Zhen, Lyytikainen, Leo-Pekka, Michel, Martha, Rawal, Rajesh, Hum, Sc, Rosenberger, Albert, Scheet, Paul, Shaffer, John R., Teumer, Alexander ... Bierut, Laura J. (2012). Increased genetic vulnerability to smoking at CHRNA5 in early-onset smokers. Archives of General Psychiatry, 69 (8), 854-861. doi: 10.1001/archgenpsychiatry.2012.124

The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation

Verweij, Karin J. H., Vinkhuyzen, Anna A. E., Benyamin, Beben, Lynskey, Michael T., Quaye, Lydia, Agrawal, Arpana, Gordon, Scott D., Montgomery, Grant W., Madden, Pamela A. F., Heath, Andrew C., Spector, Andrew C., Martin, Nicholas G. and Medland, Sarah E. (2012). The genetic aetiology of cannabis use initiation: a meta-analysis of genome-wide association studies and a SNP-based heritability estimation. Addiction Biology, 18 (5), 846-850. doi: 10.1111/j.1369-1600.2012.00478.x

Impact of oncogenic driver mutations on feedback between the PI3K and MEK pathways in cancer cells

Yuen, Hiu-Fung, Abramczykd, Olga, Montgomery, Grant, Chan, Ka-Kui, Huang, Yu-Han, Sasazuki, Takehiko, Shirasawa, Senji, Gopesh, Srivastava, Chan, Kwok-Wah, Fennell, Dean, Janne, Pasi, El-Tanani, Mohamed and Murray, James T. (2012). Impact of oncogenic driver mutations on feedback between the PI3K and MEK pathways in cancer cells. Bioscience Reports, 32 (4), 413-422. doi: 10.1042/BSR20120050

A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor

Byrne, Enda M., Johnson, Julie, McRae, Allan F., Nyholt, Dale R., Medland, Sarah E., Gehrman, Philip R., Heath, Andrew C., Madden, Pamela A. F., Montgomery, Grant W., Chenevix-Trench, Georgia and Martin, Nicholas G. (2012). A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor. Sleep, 35 (7), 967-975. doi: 10.5665/sleep.1962

Cannabinoid receptor genotype moderation of the effects of childhood physical abuse on anhedonia and depression

Agrawal, Arpana, Nelson, Elliot C., Littlefield, Andrew K., Bucholz, Kathleen K., Degenhardt, Louisa, Henders, Anjali K., Madden, Pamela A. F., Martin, Nicholas G., Montgomery, Grant W., Pergadia, Michele L., Sher, Kenneth J., Heath, Andrew C. and Lynskey, Michael T. (2012). Cannabinoid receptor genotype moderation of the effects of childhood physical abuse on anhedonia and depression. Archives of General Psychiatry, 69 (7), 732-740. doi: 10.1001/archgenpsychiatry.2011.2273

Evidence of inbreeding depression on human height

McQuillan, Ruth, Eklund, Niina, Pirastu, Nicola, Kuningas, Maris, McEvoy, Brian P., Esko, Tonu, Corre, Tanguy, Davies, Gail, Kaakinen, Marika, Lyytikainen, Leo-Pekka, Kristiansson, Kati, Havulinna, Aki S., Gogele, Martin, Vitart, Veronique, Tenesa, Albert, Aulchenko, Yurii, Hayward, Caroline, Johansson, Asa, Boban, Mladen, Ulivi, Sheila, Robino, Antonietta, Boraska, Vesna, Igl, Wilmar, Wild, Sarah H., Zgaga, Lina, Amin, Najaf, Theodoratou, Evropi, Polasek, Ozren, Girotto, Giorgia ... Wilson, James F. (2012). Evidence of inbreeding depression on human height. Plos Genetics, 8 (7) e1002655, e1002655. doi: 10.1371/journal.pgen.1002655

Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6

Bloom, A. Joseph, Harari, Oscar, Martinez, Maribel, Madden, Pamela A. F., Martin, Nicholas G., Montgomery, Grant W., Rice, John P., Murphy, Sharon E., Bierut, Laura J. and Goate, Alison (2012). Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6. Human Molecular Genetics, 21 (13) dds114, 3050-3062. doi: 10.1093/hmg/dds114

Gene network effects on brain microstructure and intellectual performance identified in 472 twins

Chiang, Ming-Chang, Barysheva, Marina, McMahon, Katie L., de Zubicaray, Greig I., Johnson, Kori, Montgomery, Grant W., Martin, Nicholas G., Toga, Arthur W., Wright, Margaret J., Shapshak, Paul and Thompson, Paul M. (2012). Gene network effects on brain microstructure and intellectual performance identified in 472 twins. Journal of Neuroscience, 32 (25), 8732-8745. doi: 10.1523/JNEUROSCI.5993-11.2012

Alzheimer's disease risk gene, GAB2, is associated with regional brain volume differences in 755 young healthy twins

Hibar, Derrek P., Jahanshad, Neda, Stein, Jason L., Kohannim, Omid, Toga, Arthur W., Medland, Sarah E., Hansell, Narelle K., McMahon, Katie L., de Zubicaray, Greig I., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J. and Thompson, Paul M. (2012). Alzheimer's disease risk gene, GAB2, is associated with regional brain volume differences in 755 young healthy twins. Twin Research and Human Genetics, 15 (3), 286-295. doi: 10.1017/thg.2012.15

Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia

Verbrugghe, Phebe, Bouwer, Sonja, Wiltshire, Steven, Carter, Kim, Chandler, David, Cooper, Matthew, Morar, Bharti, Razif, Muhammad F. M., Henders, Anjali, Badcock, Johanna C., Dragovic, Milan, Carr, Vaughan, Almeida, Osvaldo P., Flicker, Leon, Montgomery, Grant, Jablensky, Assen and Kalaydjieva, Luba (2012). Impact of the Reelin signaling cascade (ligands-receptors-adaptor complex) on cognition in schizophrenia. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 159 B (4), 392-404. doi: 10.1002/ajmg.b.32042

Six novel susceptibility loci for early-onset androgenetic alopecia and their unexpected association with common diseases

Li, Rui, Brockschmidt, Felix F., Kiefer, Amy K., Stefansson, Hreinn, Nyholt, Dale R., Song, Kijoung, Vermeulen, Sita H., Kanoni, Stavroula, Glass, Daniel, Medland, Sarah E., Dimitriou, Maria, Waterworth, Dawn, Tung, Joyce Y., Geller, Frank, Heilmann, Stefanie, Hillmer, Axel M., Bataille, Veronique, Eigelshoven, Sibylle, Hanneken, Sandra, Moebus, Susanne, Herold, Christine, den Heijer, Martin, Montgomery, Grant W., Deloukas, Panos, Eriksson, Nicholas, Heath, Andrew C., Becker, Tim, Sulem, Patrick, Mangino, Massimo ... Richards, J. Brent (2012). Six novel susceptibility loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genetics, 8 (5) e1002746, 222-224. doi: 10.1371/journal.pgen.1002746

Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion (vol 2, e125, 2012)

Vinkhuyzen, A. A. E., Pedersen, N. L., Yang, J., Lee, S. H., Magnusson, P. K. E., Iacono, W. G., McGue, M., Madden, P. A. F., Heath, A. C., Luciano, M., Payton, A., Horan, M., Ollier, W., Pendleton, N., Deary, I. J., Montgomery, G. W., Martin, N. G., Visscher, P. M. and Wray, N. R. (2012). Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion (vol 2, e125, 2012). Translational Psychiatry, 2 (5) e125, e125-e125. doi: 10.1038/tp.2012.49

A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales

Service, S. K., Verweij, K. J. H., Lahti, J., Congdon, E., Ekelund, J., Hintsanen, M., Raikkonen, K., Lehtimaki, T., Kahonen, M., Widen, E., Taanila, A., Veijola, J., Heath, A. C., Madden, P. A. F., Montgomery, G. W., Sabatti, C., Jarvelin, M-R, Palotie, A., Raitakari, O., Viikari, J., Martin, N. G., Eriksson, J. G., Keltikangas-Jarvinen, L., Wray, N. R. and Freimer, N. B. (2012). A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales. Translational Psychiatry, 2 (5) e116, e116-e116. doi: 10.1038/tp.2012.37

Common genetic determinants of intraocular pressure and primary open-angle glaucoma

van Koolwijk, Leonieke M. E., Ramdas, Wishal D., Ikram, M. Kamran, Jansonius, Nomdo M., Pasutto, Francesca, Hysi, Pirro G., Macgregor, Stuart, Janssen, Sarah F., Hewitt, Alex W., Viswanathan, Ananth C., ten Brink, Jacoline B., Hosseini, S. Mohsen, Amin, Najaf, Despriet, Dominiek D. G., Willemse-Assink, Jacqueline J. M., Kramer, Rogier, Rivadeneira, Fernando, Struchalin, Maksim, Aulchenko, Yurii S., Weisschuh, Nicole, Zenkel, Matthias, Mardin, Christian Y., Gramer, Eugen, Welge-Luessen, Ulrich, Montgomery, Grant W., Carbonaro, Francis, Young, Terri L., The DCCT/EDIC Research Group, Bellenguez, Celine, McGuffin, Peter ... Brown, Matthew A. (2012). Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genetics, 8 (5) e1002611, e1002611.1-e1002611.13. doi: 10.1371/journal.pgen.1002611

Identification of common variants associated with human hippocampal and intracranial volumes

Stein, Jason L., Medland, Sarah E., Vasquez, Alejandro Arias, Hibar, Derrek P., Senstad, Rudy E., Winkler, Anderson M., Toro, Roberto, Appel, Katja, Bartecek, Richard, Bergmann, Ørjan, Bernard, Manon, Brown, Andrew A., Cannon, Dara M., Chakravarty, M. Mallar, Christoforou, Andrea, Domin, Martin, Grimm, Oliver, Hollinshead, Marisa, Holmes, Avram J., Homuth, Georg, Hottenga, Jouke-Jan, Langan, Camilla, Lopez, Lorna M., Hansell, Narelle K., Hwang, Kristy S., Kim, Sungeun, Laje, Gonzalo, Lee, Phil H., Liu, Xinmin ... Brown, Matthew A. (2012). Identification of common variants associated with human hippocampal and intracranial volumes. Nature Genetics, 44 (5), 552-561. doi: 10.1038/ng.2250

No association of candidate genes with cannabis use in a large sample of Australian twin families

Verweij, Karin J. H., Zietsch, Brendan P., Liu, Jimmy Z., Medland, Sarah E., Lynskey, Michael T., Madden, Pamela A. F., Agrawal, Arpana, Montgomery, Grant W., Heath, Andrew C. and Martin, Nicholas G. (2012). No association of candidate genes with cannabis use in a large sample of Australian twin families. Addiction Biology, 17 (3), 687-690. doi: 10.1111/j.1369-1600.2011.00320.x

The renal urate transporter SLC17A1 locus: confirmation of association with gout

Hollis-Moffatt, Jade E., Phipps-Green, Amanda J., Chapman, Brett, Jones, Gregory T., van Rij, Andre, Gow, Peter J., Harrison, Andrew A., Highton, John, Jones, Peter B., Montgomery, Grant W., Stamp, Lisa K., Dalbeth, Nicola and Merriman, Tony R. (2012). The renal urate transporter SLC17A1 locus: confirmation of association with gout. Arthritis Research and Therapy, 14 (2) R92. doi: 10.1186/ar3816

Evidence of differential allelic effects between adolescents and adults for plasma high-density lipoprotein

Middelberg, Rita P. S., Heath, Andrew C., Madden, Pamela A. F., Montgomery, Grant W., Martin, Nicholas G. and Whitfield, John B. (2012). Evidence of differential allelic effects between adolescents and adults for plasma high-density lipoprotein. PLoS ONE, 7 (4) e35605, e35605. doi: 10.1371/journal.pone.0035605

Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes

Webb, Bradley T., Guo, An-Yuan, Maher, Brion S., Zhao, Zhongming, van den Oord, Edwin J., Kendler, Kenneth S., Riley, Brien P., Gillespie, Nathan A., Prescott, Carol A., Middeldorp, Christel M., Willemsen, Gonneke, de Geus, Eco J. C., Hottenga, Jouke-Jan, Boomsma, Dorret I., Slagboom, Eline P., Wray, Naomi R., Montgomery, Grant W., Martin, Nicholas G., Wright, Margie J., Heath, Andrew C., Madden, Pamela A., Gelernter, Joel, Knowles, James A., Hamilton, Steven P., Weissman, Myrna M., Fyer, Abby J., Huezo-Diaz, Patricia, McGuffin, Peter, Farmer, Anne ... Hettema, John M. (2012). Meta-analyses of genome-wide linkage scans of anxiety-related phenotypes. European Journal of Human Genetics, 20 (10), 1078-1084. doi: 10.1038/ejhg.2012.47

Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene

Jahanshad, Neda, Kohannim, Omid, Hibar, Derrek P., Stein, Jason L., McMahon, Katie L., de Zubicaray, Greig I., Medland, Sarah E., Montgomery, Grant W., Whitfield, John B., Martin, Nicholas G., Wright, Margaret J., Toga, Arthur W. and Thompson, Paul M. (2012). Brain structure in healthy adults is related to serum transferrin and the H63D polymorphism in the HFE gene. Proceedings of the National Academy of Sciences of USA, 109 (14), E851-E859. doi: 10.1073/pnas.1105543109

Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2

Dennis, Emily L., Jahanshad, Neda, Rudie, Jeffrey D., Brown, Jesse A., Johnson, Kori, McMahon, Katie L., de Zubicaray, Greig I., Montgomery, Grant, Martin, Nicholas G., Wright, Margaret J., Bookheimer, Susan Y., Dapretto, Mirella, Toga, Arthur W. and Thompson, Paul M. (2012). Altered structural brain connectivity in healthy carriers of the autism risk gene, CNTNAP2. Brain Connectivity, 1 (6), 447-460. doi: 10.1089/brain.2011.0064

Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion

Vinkhuyzen, A. A. E., Pedersen, N. L., Yang, J., Lee, S. H., Magnusson, P. K. E., Iacono, W. G., McGue, M., Madden, P. A. F., Heath, A. C., Luciano, M., Payton, A., Horan, M., Ollier, W., Pendleton, N., Deary, I. J., Montgomery, G. W., Martin, N. G., Visscher, P. M. and Wray, N. R. (2012). Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion. Translational Psychiatry, 2 (e102) 201227, e102-e102. doi: 10.1038/tp.2012.27

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

Yang, Jian, Ferreira, Teresa, Morris, Andrew P., Medland, Sarah E., Madden, Pamela A. F., Heath, Andrew C., Martin, Nicholas G., Montgomery, Grant W., Weedon, Michael N., Loos, Ruth J., Frayling, Timothy M., McCarthy, Mark I., Hirschhorn, Joel N., Goddard, Michael E., Visscher, Peter M., Genetic Invest ANthropometric Trai and DIAbet Genetics Replication Meta-A (2012). Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nature Genetics, 44 (4), 369-375. doi: 10.1038/ng.2213

The Brisbane systems genetics study: genetical genomics meets complex trait genetics

Powell, Joseph E., Henders, Anjali K., McRae, Allan F., Caracella, Anthony, Smith, Sara, Wright, Margaret J., Whitfield, John B., Dermitzakis, Emmanouil T., Martin, Nicholas G., Visscher, Peter M. and Montgomery, Grant W. (2012). The Brisbane systems genetics study: genetical genomics meets complex trait genetics. PLoS One, 7 (4) e35430, e35430.1-e35430.9. doi: 10.1371/journal.pone.0035430

Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent

Powell, Joseph E., Henders, Anjali K., McRae, Allan F., Wright, Margaret J., Martin, Nicholas G., Dermitzakis, Emmanouil T., Montgomery, Grant W. and Visscher, Peter M. (2012). Genetic control of gene expression in whole blood and lymphoblastoid cell lines is largely independent. Genome Research, 22 (3), 456-466. doi: 10.1101/gr.126540.111

Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer

Tomlinson, Ian P. M., Houlston, Richard S., Montgomery, Grant W., Sieber, Oliver M. and Dunlop, Malcolm G. (2012). Investigation of the effects of DNA repair gene polymorphisms on the risk of colorectal cancer. Mutagenesis, 27 (2), 219-223. doi: 10.1093/mutage/ger070

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

Spain, Sarah L., Carvajal-Carmona, Luis G., Howarth, Kimberley M., Jones, Angela M., Su, Zhan, Cazier, Jean-Baptiste, Williams, Jennet, Aaltonen, Lauri A., Pharoah, Paul, Kerr, David J., Cheadle, Jeremy, Li, Li, Casey, Graham, Vodicka, Pavel, Sieber, Oliver, Lipton, Lara, Gibbs, Peter, Martin, Nicholas G., Montgomery, Grant W., Young, Joanne, Baird, Paul N., Morreau, Hans, van Wezel, Tom, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Carracedo, Angel, Castells, Antoni, Castellvi-Bel, Sergi, Dunlop, Malcolm ... Tomlinson, Ian P. M. (2012). Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13. Human Molecular Genetics, 21 (4) ddr523, 934-946. doi: 10.1093/hmg/ddr523

Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: a case-control study

O'Callaghan, Michael E., MacLennan, Alastair H., Gibson, Catherine S., McMichael, Gai L., Haan, Eric A., Broadbent, Jessica L., Goldwater, Paul N., Painter, Jodie N., Montgomery, Grant W. and Dekker, Gus A. (2012). Fetal and maternal candidate single nucleotide polymorphism associations with cerebral palsy: a case-control study. Pediatrics, 129 (2), E414-E423. doi: 10.1542/peds.2011-0739

Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk

Law, Matthew H., Montgomery, Grant W., Brown, Kevin M., Martin, Nicholas G., Mann, Graham J., Hayward, Nicholas K., MacGregor, Stuart and Q-MEGA and AMFS Investigators (2012). Meta-analysis combining new and existing data sets confirms that the TERT-CLPTM1L locus influences melanoma risk. Journal of Investigative Dermatology, 132 (2), 485-487. doi: 10.1038/jid.2011.322

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

Paternoster, Lavinia, Standl, Marie, Chen, Chi-Mei, Ramasamy, Adaikalavan, Bonnelykke, Klaus, Duijts, Liesbeth, Ferreira, Manuel A., Alves, Alexessander C., Thyssen, Jacob P., Albrecht, Eva, Baurecht, Hansjorg, Feenstra, Bjarke, Sleiman, Patrick M. A., Hysi, Piro, Warrington, Nicole M., Curjuric, Ivan, Myhre, Ronny, Curtin, John A., Groen-Blokhuis, Maria M., Kerkhof, Marjan, Saaf, Annika, Franke, Andre, Ellinghaus, David, Folster-Holst, Regina, Dermitzakis, Emmanouil, Montgomery, Stephen B., Prokisch, Holger, Heim, Katharina, Hartikainen, Anna-Lisa ... EArly Genetics Lifecourse Epidemiology (EAGLE) Consortium (2012). Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis. Nature Genetics, 44 (2), 187-192. doi: 10.1038/ng.1017

A genome-wide study on the perception of the odorants androstenone and galaxolide

Knaapila, Antti, Zhu, Gu, Medland, Sarah E., Wysocki, Charles J., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J. and Reed, Danielle R. (2012). A genome-wide study on the perception of the odorants androstenone and galaxolide. Chemical Senses, 37 (6), 541-552. doi: 10.1093/chemse/bjs008

Genetic variation within a metabolic motif in the chromogranin A promoter: Pleiotropic influence on cardiometabolic risk traits in twins

Rao, Fangwen, Chiron, Stephane, Wei, Zhiyun, Fung, Maple M., Chen, Yuqing, Wen, Gen, Khandrika, Srikrishna, Ziegler, Michael G., Benyamin, Beben, Montgomery, Grant, Whitfield, John B., Martin, Nicholas G., Waalen, Jill, Hamiltoni, Bruce A., Mahata, Sushil K. and O'Connor, Daniel T. (2012). Genetic variation within a metabolic motif in the chromogranin A promoter: Pleiotropic influence on cardiometabolic risk traits in twins. American Journal of Hypertension, 25 (1), 29-40. doi: 10.1038/ajh.2011.163

Genome-wide association study of major depressive disorder: New results, meta-analysis, and lessons learned

Wray, N. R., Pergadia, M. L., Blackwood, D. H. R., Penninx, B. W. J. H., Gordon, S. D., Nyholt, D. R., Ripke, S., MacIntyre, D. J., McGhee, K. A., MacLean, A. W., Smit, J. H., Hottenga, J. J., Willemsen, G., Middeldorp, C. M., De Geus, E. J. C., Lewis, C. M., McGuffin, P., Hickie, I. B., Van Den Oord, E. J. C. G., Liu, J. Z., MacGregor, S., McEvoy, B. P., Byrne, E. M., Medland, S. E., Statham, D. J., Henders, A. K., Heath, A. C., Montgomery, G. W., Martin, N. G. ... Sullivan, P. F. (2012). Genome-wide association study of major depressive disorder: New results, meta-analysis, and lessons learned. Molecular Psychiatry, 17 (1), 36-48. doi: 10.1038/mp.2010.109

Loci affecting gamma-glutamyl transferase in adults and adolescents show age x SNP interaction and cardiometabolic disease associations

Middelberg, Rita P., Benyamin, Beben, de Moor, Marleen H. M., Warrington, Nicole M., Gordon, Scott, Henders, Anjali K., Medland, Sarah E., Nyholt, Dale R., de Geus, Eco J. C., Hottenga, Jouke J., Willemsen, Gonneke, Beilin, Lawrence J., Mori, Trevor A., Wright, Margaret J., Heath, Andrew C., Madden, Pamela A. F., Boomsma, Dorret I., Pennell, Craig E., Montgomery, Grant W., Martin, Nicholas G. and Whitfield, John B. (2012). Loci affecting gamma-glutamyl transferase in adults and adolescents show age x SNP interaction and cardiometabolic disease associations. Human Molecular Genetics, 21 (2) ddr478, 446-455. doi: 10.1093/hmg/ddr478

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

Stolk L., Perry J.R.B., Chasman D.I., He C., Mangino M., Sulem P., Barbalic M., Broer L., Byrne E.M., Ernst F., Esko T., Franceschini N., Gudbjartsson D.F., Hottenga J.-J., Kraft P., McArdle P.F., Porcu E., Shin S.-Y., Smith A.V., Van Wingerden S., Zhai G., Zhuang W.V., Albrecht E., Alizadeh B.Z., Aspelund T., Bandinelli S., Lauc L.B., Beckmann J.S., Boban M. ... Lunetta K.L. (2012). Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nature Genetics, 44 (3), 260-268. doi: 10.1038/ng.1051

Meta-analysis of genome-wide association studies for personality

de Moor, M. H. M., Costa, P. T., Terracciano, A., Krueger, R. F., de Geus, E. J. C., Toshiko, T., Penninx, B. W. J. H., Esko, T., Madden, P. A. F., Derringer, J., Amin, N., Willemsen, G., Hottenga, J.-J., Distel, M. A., Uda, M., Sanna, S., Spinhoven, P., Hartman, C. A., Sullivan, P., Realo, A., Allik, J., Heath, A. C., Pergadia, M. L., Agrawal, A., Lin, P., Grucza, R., Nutile, T., Ciullo, M., Rujescu, D. ... Boomsma, D. I. (2012). Meta-analysis of genome-wide association studies for personality. Molecular Psychiatry, 17 (3), 337-349. doi: 10.1038/mp.2010.128

Predicting white matter integrity from multiple common genetic variants

Kohannim, Omid, Jahanshad, Neda, Braskie, Meredith N., Stein, Jason L., Chiang, Ming-Chang, Reese. April H., Hibar, Derrek P., Toga, Arthur W., McMahon, Katie L., de Zubicaray, Greig I., Medland, Sarah E., Montgomery, Grant W., Martin, Nicholas G., Wright. Margaret J. and Thompson, Paul M. (2012). Predicting white matter integrity from multiple common genetic variants. Neuropsychopharmacology, 37 (9), 2012-2019. doi: 10.1038/npp.2012.49

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Yokoyama, Satoru, Woods, Susan L., Boyle, Glen M., Aoude, Lauren G., MacGregor, Stuart, Zismann, Victoria, Gartside, Michael, Cust, Anne E., Haq, Rizwan, Harland, Mark, Taylor, John C., Duffy, David L., Holohan, Kelly, Dutton-Regester, Ken, Palmer, Jane M., Bonazzi, Vanessa, Stark, Mitchell S., Symmons, Judith, Law, Matthew H., Schmidt, Christopher, Lanagan, Cathy, O'Connor, Linda, Holland, Elizabeth A., Schmid, Helen, Maskiell, Judith A., Jetann, Jodie, Ferguson, Megan, Jenkins, Mark A., Kefford, Richard F. ... Brown, Kevin M. (2011). A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma. Nature, 480 (7375), 99-103. doi: 10.1038/nature10630

New gene functions in megakaryopoiesis and platelet formation

Gieger, Christian, Radhakrishnan, Aparna, Cvejic, Ana, Tang, Weihong, Porcu, Eleonora, Pistis, Giorgio, Serbanovic-Canic, Jovana, Elling, Ulrich, Goodall, Alison H., Labrune, Yann, Lopez, Lorna M., Magi, Reedik, Meacham, Stuart, Okada, Yukinori, Pirastu, Nicola, Sorice, Rossella, Teumer, Alexander, Voss, Katrin, Zhang, Weihua, Ramirez-Solis, Ramiro, Bis, Joshua C., Ellinghaus, David, Gogele, Martin, Hottenga, Jouke-Jan, Langenberg, Claudia, Kovacs, Peter, O'Reilly, Paul F., Shin, So-Youn, Esko, Tonu ... Soranzo, Nicole (2011). New gene functions in megakaryopoiesis and platelet formation. Nature, 480 (7376), 201-208. doi: 10.1038/nature10659

GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors

Benyamin, Beben, Middelberg, Rita P., Lind, Penelope A., Valle, Anne M., Gordon, Scott, Nyholt, Dale R., Medland, Sarah E., Henders, Anjali K., Heath, Andrew C., Madden, Pamela A. F., Visscher, Peter M., O'Connor, Daniel T., Montgomery, Grant W., Martin, Nicholas G. and Whitfield, John B. (2011). GWAS of butyrylcholinesterase activity identifies four novel loci, independent effects within BCHE and secondary associations with metabolic risk factors. Human Molecular Genetics, 20 (22) ddr375, 4504-4514. doi: 10.1093/hmg/ddr375

Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3

MacGregor, Stuart, Montgomery, Grant W., Liu, Jimmy Z., Zhao, Zhen Zhen, Henders, Anjali K., Stark, Mitchell, Schmid, Helen, Holland, Elizabeth A., Duffy, David L., Zhang, Mingfeng, Painter, Jodie N., Nyholt, Dale R., Maskiell, Judith A., Jetann, Jodie, Ferguson, Megan, Cust, Anne E., Jenkins, Mark A., Whiteman, David C., Olsson, Hakan, Puig, Susana, Bianchi-Scarra, Giovanna, Hansson, Johan, Demenais, Florence, Landi, Maria Teresa, Debniak, Tadeusz, Mackie, Rona, Azizi, Esther, Bressac-de Paillerets, Brigitte, Goldstein, Alisa M. ... Hayward, Nicholas K. (2011). Genome-wide association study identifies a new melanoma susceptibility locus at 1q21.3. Nature Genetics, 43 (11), 1114-1118. doi: 10.1038/ng.958

Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking

Terracciano, A., Esko, T., Sutin, A. R., de Moor, M. H. M., Meirelles, O., Zhu, G., Tanaka, T., Giegling, I., Nutile, T., Realo, A., Allik, J., Hansell, N. K., Wright, M. J., Montgomery, G. W., Willemsen, G., Hottenga, J-J, Friedl, M., Ruggiero, D., Sorice, R., Sanna, S., Cannas, A., Raikkonen, K., Widen, E., Palotie, A., Eriksson, J. G., Cucca, F., Krueger, R. F., Lahti, J., Luciano, M. ... Uda, M. (2011). Meta-analysis of genome-wide association studies identifies common variants in CTNNA2 associated with excitement-seeking. Translational Psychiatry, 1 (10) e49, e49-e49. doi: 10.1038/tp.2011.42

Impact of the genome on the epigenome is manifested in DNA methylation patterns of imprinted regions in monozygotic and dizygotic twins

Coolen, Marcel W., Statham, Aaron L., Qu, Wenjia, Campbell, Megan J., Henders, Anjali K., Montgomery, Grant W., Martin, Nick G. and Clark, Susan J. (2011). Impact of the genome on the epigenome is manifested in DNA methylation patterns of imprinted regions in monozygotic and dizygotic twins. PLoS ONE, 6 (10) e25590, 1-12. doi: 10.1371/journal.pone.0025590

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

Surakka, Ida, Isaacs, Aaron, Karssen, Lennart C., Laurila, Pirkka-Pekka P., Middelberg, Rita P. S., Tikkanen, Emmi, Ried, Janina S., Lamina, Claudia, Mangino, Massimo, Igl, Wilmar, Hottenga, Jouke-Jan, Lagou, Vasiliki, van der Harst, Pim, Leach, Irene Mateo, Esko, Tonu, Kutalik, Zoltan, Wainwright, Nicholas W., Struchalin, Maksim V., Sarin, Antti-Pekka, Kangas, Antti J., Viikari, Jorma S., Perola, Markus, Rantanen, Taina, Petersen, Ann-Kristin, Soininen, Pasi, Johansson, Asa, Soranzo, Nicole, Heath, Andrew C., Papamarkou, Theodore ... Ripatti, Samuli (2011). A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol. PLoS Genetics, 7 (10) e1002333, e1002333. doi: 10.1371/journal.pgen.1002333

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

Burdon, Kathryn P., Macgregor, Stuart, Bykhovskaya, Yelena, Javadiyan, Sharhbanou, Li, Xiaohui, Laurie, Kate J., Muszynska, Dorota, Lindsay, Richard, Lechner, Judith, Haritunians, Talin, Henders, Anjali K., Dash, Durga, Siscovick, David, Anand, Seema, Aldave, Anthony, Coster, Douglas J., Szczotka-Flynn, Loretta, Mills, Richard A., Iyengar, Sudha K., Taylor, Kent D., Phillips, Tony, Montgomery, Grant W., Rotter, Jerome I., Hewitt, Alex W., Sharma, Shiwani, Rabinowitz, Yaron S., Willoughby, Colin and Craig, Jamie E. (2011). Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. Investigative Ophthalmology & Visual Science, 52 (11), 8514-8519. doi: 10.1167/iovs.11-8261

Common breast cancer susceptibility loci are associated with triple-negative breast cancer

Stevens, Kristen N., Vachon, Celine M., Lee, Adam M., Slager, Susan, Lesnick, Timothy, Olswold, Curtis, Fasching, Peter A., Miron, Penelope, Eccles, Diana, Carpenter, Jane E., Godwin, Andrew K., Ambrosone, Christine, Winqvist, Robert, Brauch, Hiltrud, Schmidt, Marjanka K., Cox, Angela, Cross, Simon S., Sawyer, Elinor, Hartmann, Arndt, Beckmann, Matthias W., Schulz-Wendtland, Ruediger, Ekici, Arif B., Tapper, William J., Gerty, Susan M., Durcan, Lorraine, Graham, Nikki, Hein, Rebecca, Nickels, Stephan, Flesch-Janys, Dieter ... Couch, Fergus J. (2011). Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Cancer Research, 71 (19), 6240-6249. doi: 10.1158/0008-5472.CAN-11-1266

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

Sklar, Pamela, Ripke, Stephan, Scott, Laura J., Andreassen, Ole A., Cichon, Sven, Craddock, Nick, Edenberg, Howard J., Nurnberger, John I., Jr., Rietschel, Marcella, Blackwood, Douglas, Corvin, Aiden, Flickinger, Matthew, Guan, Weihua, Mattingsdal, Morten, McQuillin, Andrew, Kwan, Phoenix, Wienker, Thomas F., Daly, Mark, Dudbridge, Frank, Holmans, Peter A., Lin, Danyu, Burmeister, Margit, Greenwood, Tiffany A., Hamshere, Marian L., Muglia, Pierandrea, Smith, Erin N., Zandi, Peter P., Nievergelt, Caroline M., McKinney, Rebecca ... Purcell, Shaun M. (2011). Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nature Genetics, 43 (10), 977-983. doi: 10.1038/ng.943

Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma

Kvaskoff, Marina, Whiteman, David C., Zhao, Zhen Z., Montgomery, Grant W., Martin, Nicholas G., Hayward, Nicholas K. and Duffy, David L. (2011). Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma. Twin Research and Human Genetics, 14 (5), 422-432. doi: 10.1375/twin.14.5.422

Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning

Luong, Hein T. T., Chaplin, Justin, McRae, Allan F., Medland, Sarah E., Willemsen, Gonneke, Nyholt, Dale R., Henders, Anjali K., Hoekstra, Chantal, Duffy, David L., Martin, Nicholas G., Boomsma, Dorret I., Montgomery, Grant W. and Painter, Jodie N. (2011). Variation in BMPR1B, TGFRB1 and BMPR2 and control of dizygotic twinning. Twin Research and Human Genetics, 14 (5), 408-416. doi: 10.1375/twin.14.5.408

Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits

Middelberg, Rita P. S., Ferreira, Manuel A. R., Henders, Anjali K., Heath, Andrew C., Madden, Pamela A. F., Montgomery, Grant W., Martin, Nicholas G. and Whitfield, John B. (2011). Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. BMC Medical Genetics, 12 (123) 123, 1-9. doi: 10.1186/1471-2350-12-123

A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications

Heath, Andrew C., Whitfield, John B., Martin, Nicholas G., Pergadia, Michele L., Goate, Alison M., Lind, Penelope A., McEvoy, Brian P., Schrage, Andrew J., Grant, Julia D., Chou, Yi-Ling, Zhu, Rachel, Henders, Anjali K., Medland, Sarah E., Gordon, Scott D., Nelson, Elliot C., Agrawal, Arpana, Nyholt, Dale R., Bucholz, Kathleen K., Madden, Pamela A. F. and Montgomery, Grant W. (2011). A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications. Biological Psychiatry, 70 (6), 513-518. doi: 10.1016/j.biopsych.2011.02.028

Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search

Stein, J. L., Hibar, D. P., Madsen, S. K., Khamis, M, McMahon, K. L., de Zubicaray, G. I., Hansell, N. K., Montgomery, G. W., Martin, N. G., Wright, M. J., Saykin, A. J., Jack Jr, C. R., Weiner. M. W., Toga. A. W., Thompson, P. M. and The Alzheimer’s Disease Neuroimaging Initiative (2011). Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search. Molecular Psychiatry, 16 (9), 927-937. doi: 10.1038/mp.2011.32

Erratum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 (Nature Genetics (2011) 43 (246-252))

Anderson, Carl A., Boucher, Gabrielle, Lees, Charlie W., Franke, Andre, D'Amato, Mauro, Taylor, Kent D., Lee, James C., Goyette, Philippe, Imielinski, Marcin, Latiano, Anna, Lagacé, Caroline, Scott, Regan, Amininejad, Leila, Bumpstead, Suzannah, Baidoo, Leonard, Baldassano, Robert N., Barclay, Murray, Bayless, Theodore M., Brand, Stephan, Büning, Carsten, Colombel, Jean-Frédéric, Denson, Lee A, De Vos, Martine, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Fehrmann, Rudolf S.N., Floyd, James A.B., Florin, Timothy ... Rioux, John D. (2011). Erratum: Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47 (Nature Genetics (2011) 43 (246-252)). Nature Genetics, 43 (9), 919-919. doi: 10.1038/ng0911-919b

Genome-wide association study identifies two loci strongly affecting transferrin glycosylation

Kutalik, Zoltan, Benyamin, Beben, Bergmann, Sven, Mooser, Vincent, Waeber, Gerard, Montgomery, Grant W., Martin, Nicholas G., Madden, Pamela A. F., Heath, Andrew C., Beckmann, Jacques S., Vollenweider, Peter, Marques-Vidal, Pedro and Whitfield, John B. (2011). Genome-wide association study identifies two loci strongly affecting transferrin glycosylation. Human Molecular Genetics, 20 (18) ddr272, 3710-3717. doi: 10.1093/hmg/ddr272

Identification of IL6R and chromosome 11q13.5 as risk loci for asthma

Ferreira, Manuel A. R., Matheson, Melanie C., Duffy, David L., Marks, Guy B., Hui, Jennie, Le Souef, Peter, Danoy, Patrick, Baltic, Svetlana, Nyholt, Dale R., Jenkins, Mark, Hayden, Catherine, Willemsen, Gonneke, Ang, Wei, Kuokkanen, Mikko, Beilby, John, Cheah, Faang, de Geus, Eco J.C., Ramasamy, Adaikalavan, Vedantam, Sailaka, Salomaa, Veikko, Madden, Pamela A., Heath, Andrew C., Hopper, John L., Visscher, Peter M., Musk, Bill, Leeder, Stephen R., Jarvelin, Marjo-Riitta, Pennell, Craig, Boomsma, Dorret I. ... Wright, Margaret J. (2011). Identification of IL6R and chromosome 11q13.5 as risk loci for asthma. Lancet, 378 (9795), 1006-1014. doi: 10.1016/S0140-6736(11)60874-X

Genome-wide association reveals dopamine-related genetic effects on caudate volume

Stein, J. L., Hibar, D. P., Madsen, S. K., Khamis, M., McMahon, K. L., De Zubicaray, G. I., Hansell, N. K., Montgomery, G. W., Martin, N. G., Wright, M. J., Saykin, A. J., Jack, C. R., Weiner, M. W., Toga, A. W. and Thompson, P. M. (2011). Genome-wide association reveals dopamine-related genetic effects on caudate volume. Molecular Psychiatry, 16 (9), 881-881. doi: 10.1038/mp.2011.98

Association mapping

Painter, Jodie N., Nyholt, Dale R. and Montgomery, Grant W. (2011). Association mapping. Methods in Molecular Biology, 760, 35-52. doi: 10.1007/978-1-61779-176-5_3

GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development

Larsson, Mats, Duffy, David L., Zhu, Gu, Liu, Jimmy Z., Macgregor, Stuart, McRae, Allan F., Wright, Margaret J., Sturm, Richard A., Mackey, David A., Montgomery, Grant W., Martin, Nicholas G. and Medland, Sarah E. (2011). GWAS findings for human iris patterns: Associations with variants in genes that influence normal neuronal pattern development. American Journal of Human Genetics, 89 (2), 334-343. doi: 10.1016/j.ajhg.2011.07.011

Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM

Amin, N., Byrne, E., Johnson, J., Chenevix-Trench, G., Walter, S., Nolte, I. M., kConFab Investigators, Vink, J.M., Rawal, R., Mangino, M., Teumer, A., Keers, J. C., Verwoert, G., Baumeister, S., Biffar, R., Petersmann, A., Dahmen, N., Doering, A., Isaacs, A., Broer, L., Wray, N. R., Montgomery, G. W., Levy, D., Psaty, B. M., Gudnason, V., Chakravarti, A., Sulem, P., Gudbjartsson, D. F., Kiemeney, L. A. ... van Duijn, C. M. (2011). Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM. Molecular Psychiatry, 17 (11), 1116-1129. doi: 10.1038/mp.2011.101

LPAR1 and ITGA4 Regulate Peripheral Blood Monocyte Counts

Maugeri, Narelle, Powell, Joseph E., 't Hoen, Peter A. C., de Geus, Eco J. C., Willemsen, Gonneke, Kattenberg, Mathijs, Henders, Anjali K., Wallace, Leanne, Penninx, Brenda, Hottenga, Jouke-Jan, Medland, Sarah E., Saviouk, Viatcheslav, Martin, Nicholas G., Visscher, Peter M., van Ommen, Gert-Jan B., Frazer, Ian H., Boomsma, Dorret I., Montgomery, Grant W. and Ferreira, Manuel A. R (2011). LPAR1 and ITGA4 Regulate Peripheral Blood Monocyte Counts. Human Mutation, 32 (8), 873-876. doi: 10.1002/humu.21536

Meta-analysis of genome-wide association for migraine in six population-based European cohorts

Ligthart, Lannie, de Vries, Boukje, Smith, Albert V., Ikram, M. Arfan, Amin, Najaf, Hottenga, Jouke-Jan, Koelewijn, Stephany C., Kattenberg, V. Mathijs, de Moor, Marleen H. M., Janssens, A. Cecile J. W., Aulchenko, Yurii S., Oostra, Ben A., de Geus, Eco J. C., Smit, Johannes H., Zitman, Frans G., Uitterlinden, Andre G., Hofman, Albert, Willemsen, Gonneke, Nyholt, Dale R., Montgomery, Grant W., Terwindt, Gisela M., Gudnason, Vilmundur, Penninx, Brenda W. J. H., Breteler, Monique, Ferrari, Michel D., Launer, Lenore J., van Duijn, Cornelia M., van den Maagdenberg, Arn M. J. M. and Boomsma, Dorret I. (2011). Meta-analysis of genome-wide association for migraine in six population-based European cohorts. European Journal of Human Genetics, 19 (8), 901-907. doi: 10.1038/ejhg.2011.48

Genetic architecture of circulating lipid levels

Demirkan, Ayse, Amin, Najaf, Isaacs, Aaron, Jarvelin, Marjo-Riitta, Whitfield, John B., Wichmann, Heinz-Erich, Kyvik, Kirsten Ohm, Rudan, Igor, Gieger, Christian, Hicks, Andrew A., Johansson, Asa, Hottenga, Jouke-Jan, Smith, Johannes J., Wild, Sarah H., Pedersen, Nancy L., Willemsen, Gonneke, Mangino, Massimo, Hayward, Caroline, Uitterlinden, Andre G., Hofman, Albert, Witteman, Jacqueline, Montgomery, Grant W., Pietilainen, Kirsi H., Rantanen, Taina, Kaprio, Jaakko, Doering, Angela, Pramstaller, Peter P., Gyllensten, Ulf, de Geus, Eco J. C. ... van Duijn, Cornelia M. (2011). Genetic architecture of circulating lipid levels. European Journal of Human Genetics, 19 (7), 813-819. doi: 10.1038/ejhg.2011.21

Genomic inflation factors under polygenic inheritance

Yang, Jian, Weedon, Michael N., Purcell, Shaun, Lettre, Guillaume, Estrada, Karol, Willer, Cristen J., Smith, Albert V., Ingelsson, Erik, O'Connell, Jeffrey R., Mangino, Massimo, Maegi, Reedik, Madden, Pamela A., Heath, Andrew C., Nyholt, Dale R., Martin, Nicholas G., Montgomery, Grant W., Frayling, Timothy M., Hirschhorn, Joel N., McCarthy, Mark I., Goddard, Michael E. and Visscher, Peter M. (2011). Genomic inflation factors under polygenic inheritance. European Journal of Human Genetics, 19 (7), 807-812. doi: 10.1038/ejhg.2011.39

Genome-wide association studies and genetic architecture of common human diseases

Montgomery, Grant W. (2011). Genome-wide association studies and genetic architecture of common human diseases. BMC Proceedings, 5 (S4) S16, S16. doi: 10.1186/1753-6561-5-s4-s16

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

Tomlinson, Ian P. M., Carvajal-Carmona, Luis G., Dobbins, Sara E., Tenesa, Albert, Jones, Angela M., Howarth, Kimberley, Palles, Claire, Broderick, Peter, Jaeger, Emma E. M., Farrington, Susan, Lewis, Annabelle, Prendergast, James G. D., Pittman, Alan M., Theodoratou, Evropi, Olver, Bianca, Walker, Marion, Penegar, Steven, Barclay, Ella, Whiffin, Nicola, Martin, Lynn, Ballereau, Stephane, Lloyd, Amy, Gorman, Maggie, Lubbe, Steven, Howie, Bryan, Marchini, Jonathan, Ruiz-Ponte, Clara, Fernandez-Rozadilla, Ceres, Castells, Antoni ... Dunlop, Malcolm G. (2011). Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer. PLoS Genetics, 7 (6) e1002105, e1002105. doi: 10.1371/journal.pgen.1002105

Educational Attainment: A Genome Wide Association Study in 9538 Australians

Martin, Nicolas W., Medland, Sarah E., Verweij, Karin J. H., Lee, S. Hong, Nyholt, Dale R., Madden, Pamela A., Heath, Andrew C., Montgomery, Grant W., Wright, Margaret J. and Martin, Nicholas G. (2011). Educational Attainment: A Genome Wide Association Study in 9538 Australians. PLoS One, 6 (6) e20128, e20128.1-e20128.8. doi: 10.1371/journal.pone.0020128

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

Burdon, Kathryn P., Macgregor, Stuart, Hewitt, Alex W., Sharma, Shiwani, Chidlow, Glyn, Mills, Richard A., Danoy, Patrick, Casson, Robert, Viswanathan, Ananth C., Liu, Jimmy Z., Landers, John, Henders, Anjali K., Wood, John, Souzeau, Emmanuelle, Crawford, April, Leo, Paul, Wang, Jie Jin, Rochtchina, Elena, Nyholt, Dale R., Martin, Nicholas G., Montgomery, Grant W., Mitchell, Paul, Brown, Matthew A., Mackey, David A. and Craig, Jamie E. (2011). Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1. Nature Genetics, 43 (6), 574-578. doi: 10.1038/ng.824

High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19

Painter, Jodie N., Nyholt, Dale R., Morris, Andrew, Zhao, Zhen Z., Henders, Anjali K., Lambert, Ann, Wallace, Leanne, Martin, Nicholas G., Kennedy, Stephen H., Treloar, Susan A., Zondervan, Krina T. and Montgomery, Grant W. (2011). High-density fine-mapping of a chromosome 10q26 linkage peak suggests association between endometriosis and variants close to CYP2C19. Fertility and Sterility, 95 (7), 2236-2240. doi: 10.1016/j.fertnstert.2011.03.062

SNP sets and reading ability: testing confirmation of a 10-SNP set in a population sample

Luciano, Michelle, Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J. and Bates, Timothy C. (2011). SNP sets and reading ability: testing confirmation of a 10-SNP set in a population sample. Twin Research and Human Genetics, 14 (3), 228-232. doi: 10.1375/twin.14.3.228

Transferrin saturation and mortality

Benyamin, Beben, Montgomery, Grant W., Martin, Nicholas G. and Whitfield, John B. (2011). Transferrin saturation and mortality. Clinical Chemistry, 57 (6), 921-923. doi: 10.1373/clinchem.2011.162784

Genome-wide association study identifies a common variant associated with risk of endometrial cancer

Spurdle, Amanda B., Thompson, Deborah J., Ahmed, Shahana, Ferguson, Kaltin, Healey, Catherine S., O'Mara, Tracy, Walker, Logan C., Montgomery, Stephen B., Dermitzakis, Emmanouil T., The Australian National Endometrial Cancer Study Group, Fahey, Paul, Montgomery, Grant W., Webb, Penelope M., Fasching, Peter A., Beckmann, Matthias W., Ekici, Arif B., Hein, Alexander, Lambrechts, Diether, Coenegrachts, Lieve, Vergote, Ignace, Amant, Frederic, Salvesen, Helga B., Trovik, Jone, Njolstad, Tormund S., Helland, Harald, Scott, Rodney J., Ashton, Katie, Proietto, Tony, Otton, Geoffrey ... Easton, Douglas F. (2011). Genome-wide association study identifies a common variant associated with risk of endometrial cancer. Nature Genetics, 43 (5), 451-454. doi: 10.1038/ng.812

Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia

Ferreira, Manuel A. R., McRae, Allan F., Medland, Sarah E., Nyholt, Dale R., Gordon, Scott D., Wright, Margaret J., Henders, Anjali K., Madden, Pamela A., Visscher, Peter M., Wray, Naomi R., Heath, Andrew C., Montgomery, Grant W., Duffy, David L. and Martin, Nicholas G. (2011). Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia. European Journal of Human Genetics, 19 (4), 458-464. doi: 10.1038/ejhg.2010.191

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis

Painter, Jodie N., Anderson, Carl A., Nyholt, Dale R., Macgregor, Stuart, Lin, Jianghai, Lee, Sang Hong, Lambert, Ann, Zhao, Zhen Z., Roseman, Fenella, Guo, Qun, Gordon, Scott D., Wallace, Leanne, Henders, Anjali K., Visscher, Peter M., Kraft, Peter, Martin, Nicholas G., Morris, Andrew P., Treloar, Susan A., Kennedy, Stephen H., Missmer, Stacey A., Montgomery, Grant W. and Zondervan, Krina T. (2011). Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Obstetrical and Gynecological Survey, 66 (4), 214-216. doi: 10.1097/OGX.0b013e318210cea1

Interactions between the COMT Val108/158Met polymorphism and maternal prenatal smoking predict aggressive behavior outcomes

Brennan, Patricia A., Hammen, Constance, Sylvers, Patrick, Bor, William, Najman, Jake, Lind, Penelope, Montgomery, Grant and Smith, Alicia K. (2011). Interactions between the COMT Val108/158Met polymorphism and maternal prenatal smoking predict aggressive behavior outcomes. Biological Psychology, 87 (1), 99-105. doi: 10.1016/j.biopsycho.2011.02.013

Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder

Cichon, Sven, Muehleisen, Thomas W., Degenhardt, Franziska A., Mattheisen, Manuel, Miro, Xavier, Strohmaier, Jana, Steffens, Michael, Meesters, Christian, Herms, Stefan, Weingarten, Moritz, Priebe, Lutz, Haenisch, Britta, Aexander, Michael, Vollmer, Jennifer, Breuer, Rene, Schmael, Christine, Tessmann, Peter, Moebus, Susanne, Wichmann, H. -Erich, Schreiber, Stefan, Mueller-Myhsok, Bertram, Lucae, Susanne, Jamain, Stephane, Leboyer, Marion, Bellivier, Frank, Etain, Bruno, Henry, Chantal, Kahn, Jean-Pierre, Heath, Simon ... Noethen, Markus M. (2011). Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. American Journal of Human Genetics, 88 (3), 372-381. doi: 10.1016/j.ajhg.2011.01.017

Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits

Speliotes, Elizabeth K., Yerges-Armstrong, Laura M., Wu, Jun, Hernaez, Ruben, Kim, Lauren J., Palmer, Cameron D., Gudnason, Vilmundur, Eiriksdottir, Gudny, Garcia, Melissa E., Launer, Lenore J., Nalls, Michael A., Clark, Jeanne M., Mitchell, Braxton D., Shuldiner, Alan R., Butler, Johannah L., Tomas, Marta, Hoffmann, Udo, Hwang, Shih-Jen, Massaro, Joseph M., O'Donnell, Christopher J., Sahani, Dushyant V., Salomaa, Veikko, Schadt, Eric E., Schwartz, Stephen M., Siscovick, David S., NASH CRN, GIANT Consortium, MAGIC Investigators, Voight, Benjamin F. ... Coin, Lachlan (2011). Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. PLoS Genetics, 7 (3) e1001324, e1001324.1-e1001324.14. doi: 10.1371/journal.pgen.1001324

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Anderson, Carl A., Boucher, Gabrielle, Lees, Charlie W., Franke, Andre, D'Amato, Mauro, Taylor, Kent D., Lee, James C., Goyette, Philippe, Imielinski, Marcin, Latiano, Anna, Lagace, Caroline, Scott, Regan, Amininejad, Leila, Bumpstead, Suzannah, Baidoo, Leonard, Baldassano, Robert N., Barclay, Murray, Bayless, Theodore M., Brand, Stephan, Buening, Carsten, Colombel, Jean-Frederic, Denson, Lee A., De Vos, Martine, Dubinsky, Marla, Edwards, Cathryn, Ellinghaus, David, Fehrmann, Rudolf S. N., Floyd, James A. B., Florin, Timothy ... Rioux, John D. (2011). Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nature Genetics, 43 (3), 246-252. doi: 10.1038/ng.764

Whole genome association scan for genetic polymorphisms influencing information processing speed

Luciano, Michelle, Hansell, Narelle K., Lahti, Jari, Davies, Gail, Medland, Sarah E., Raikkonen, Katri, Tenesa, Albert, Widen, Elisabeth, McGhee, Kevin A., Palotie, Aarno, Liewald, David, Porteous, David J., Starr, John M., Montgomery, Grant W., Martin, Nicholas G., Eriksson, Johan G., Wright, Margaret J. and Deary, Ian J. (2011). Whole genome association scan for genetic polymorphisms influencing information processing speed. Biological Psychology, 86 (3), 193-202. doi: 10.1016/j.biopsycho.2010.11.008

Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder (vol 88, pg 372, 2011)

Cichon, Sven, Muehleisen, Thomas W., Degenhardt, Franziska A., Mattheisen, Manuel, Miro, Xavier, Strohmaier, Jana, Steffens, Michael, Meesters, Christian, Herms, Stefan, Weingarten, Moritz, Priebe, Lutz, Haenisch, Britta, Alexander, Michael, Vollmer, Jennifer, Breuer, Rene, Schmael, Christine, Tessmann, Peter, Moebus, Susanne, Wichmann, H. -Erich, Schreiber, Stefan, Mueller-Myhsok, Bertram, Lucae, Susanne, Jamain, Stephane, Leboyer, Marion, Bellivier, Frank, Etain, Bruno, Henry, Chantal, Kahn, Jean-Pierre, Heath, Simon ... Noethen, Markus M. (2011). Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder (vol 88, pg 372, 2011). American Journal of Human Genetics, 88 (3), 396-396. doi: 10.1016/j.ajhg.2011.03.001

Evaluation of polymorphisms in predicted target sites for micro RNAs differentially expressed in endometriosis

Zhao, ZZ, Croft, L, Nyholt, DR, Chapman, B, Treloar, SA, Hull, ML and Montgomery, GW (2011). Evaluation of polymorphisms in predicted target sites for micro RNAs differentially expressed in endometriosis. Molecular Human Reproduction, 17 (2), 92-103. doi: 10.1093/molehr/gaq084

High intake of folate from food sources is associated with reduced risk of esophageal cancer in an Australian population

Ibiebele, Torukiri I., Hughes, Maria Celia, Pandeya, Nirmala, Zhao, Zhen, Montgomery, Grant, Hayward, Nick, Green, Adele C., Whiteman, David C., Webb, Penelope M. and for the Study of Digestive Health and Australian Cancer Study (2011). High intake of folate from food sources is associated with reduced risk of esophageal cancer in an Australian population. Journal of Nutrition, 141 (2), 274-283. doi: 10.3945/jn.110.131235

A 3p26-3p25 genetic linkage finding for DSM-IV major depression in heavy smoking families

Pergadia, Michele L., Glowinski, Anne L., Wray, Naomi, Agrawal, Arpana, Saccone, Scott F., Loukola, Anu, Broms, Ulla, Koronen, Tellervo, Penninx, Brenda W. J. H., Grant, Julia D., Nelson, Elliot C., Henders, Anjali K., Schrage, Andrew J., Chou, Yi-Ling, Keskitalo-Vuokko, Kaisu, Zhu, Qin, Gordon, Scott D., Vink, Jacqueline M., de Geus, Eco J. C., MacGregor, Stuart, Liu, Jimmy Z., Willemsen, Gonneke, Medland, Sarah E., Boomsma, Dorret I., Montgomery, Grant W., Rice, John P., Goate, Alison M., Heath, Andrew, C, Martin, Nicholas G. and Madden, Pamela A. F. (2011). A 3p26-3p25 genetic linkage finding for DSM-IV major depression in heavy smoking families. American Journal Psychiatry, 168 (8), 848-852. doi: 10.1176/appi.ajp.2011.10091319

A genome-wide analysis of liberal and conservative political attitudes

Hatemi, Peter K., Gillespie, Nathan A., Eaves, Lindon J., Maher, Brion S., Webb, Bradley T., Heath, Andrew C., Medland, Sarah E., Smyth, David C., Beeby, Harry N., Gordon, Scott D., Montgomery, Grant W., Zhu, Ghu, Byrne, Enda M. and Martin, Nicholas G. (2011). A genome-wide analysis of liberal and conservative political attitudes. Journal of Politics, 73 (1), 271-285. doi: 10.1017/S0022381610001015

Cognitive function in adolescence: Testing for interactions between breast-feeding and FADS2 polymorphisms

Martin, Nicolas W., Benyamin, Beben, Hansell, Narelle K., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J. and Bates, Timothy C. (2011). Cognitive function in adolescence: Testing for interactions between breast-feeding and FADS2 polymorphisms. Journal of the American Academy of Child and Adolescent Psychiatry, 50 (1), 55-62.e4. doi: 10.1016/j.jaac.2010.10.010

Genetic variance in a component of the language acquisition device: ROBO1 polymorphisms associated with phonological buffer deficits

Bates, Timothy C., Luciano, Michelle, Medland, Sarah E., Montgomery, Grant W., Wright, Margaret J. and Martin, Nicholas G. (2011). Genetic variance in a component of the language acquisition device: ROBO1 polymorphisms associated with phonological buffer deficits. Behavior Genetics, 41 (1), 50-57. doi: 10.1007/s10519-010-9402-9

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis

Painter, JN, Anderson, CA, Nyholt, DR, Macgregor, S, Lin, JH, Lee, SH, Lambert, A, Zhao, ZZ, Roseman, F, Guo, Q, Gordon, SD, Wallace, L, Henders, AK, Visscher, PM, Kraft, P, Martin, NG, Morris, AP, Treloar, SA, Kennedy, SH, Missmer, SA, Montgomery, GW and Zondervan, KT (2011). Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nature Genetics, 43 (1), 51-54. doi: 10.1038/ng.731

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

Chambers, John C., Zhang, Weihua, Sehmi, Joban, Li, Xinzhong, Wass, Mark N., Van der Harst, Pim, Holm, Hilma, Sanna, Serena, Kavousi, Maryam, Baumeister, Sebastian E., Coin, Lachlan J., Deng, Guohong, Gieger, Christian, Heard-Costa, Nancy L., Hottenga, Jouke-Jan, Kuhnel, Brigitte, Kumar, Vinod, Lagou, Vasiliki, Liang, Liming, Luan, Jian’an, Marques Vidal, Pedro, Leach, Irene Mateo, O'Reilly, Paul F., Peden, John F., Rahmioglu, Nilufer, Soininen, Pasi, Speliotes, Elizabeth K., Yuan, Xin, Thorleifsson, Gudmar ... Kooner, Jaspal S. (2011). Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nature Genetics, 43 (11), 1131-1138. doi: 10.1038/ng.970

Genome-wide association study identifies three new melanoma susceptibility loci

Barrett, Jennifer H., Iles, Mark M., Harland, Mark, Taylor, John C., Aitken, Joanne F., Andresen, Per Arne, Akslen, Lars A., Armstrong, Bruce K., Avril, Marie-Francoise, Azizi, Esther, Bakker, Bert, Bergman, Wilma, Bianchi-Scarrà, Giovanna, Bressac-de Paillerets, Brigitte, Calista, Donato, Cannon-Albright, Lisa A., Corda, Eve, Cust, Anne E., Dębniak, Tadeusz, Duffy, David, Dunning, Alison M., Easton, Douglas F., Friedman, Eitan, Galan, Pilar, Ghiorzo, Paola, Giles, Graham G., Hansson, Johan, Hocevar, Marko, Höiom, Veronica ... Bishop, D. Timothy (2011). Genome-wide association study identifies three new melanoma susceptibility loci. Nature Genetics, 43 (11), 1108-1113. doi: 10.1038/ng.959

Identification of tag haplotypes for 5HTTLPR for different genome-wide SNP platforms

Vinkhuyzen, A. A. E., Dumenil, T., Ryan, L., Gordon, S. D., Henders, A. K., Madden, P. A. F., Heath, A. C., Montgomery, G. W., Martin, N. G. and Wray, N. R. (2011). Identification of tag haplotypes for 5HTTLPR for different genome-wide SNP platforms. Molecular Psychiatry, 16 (11), 1073-1075. doi: 10.1038/mp.2011.68

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

Rossin, Elizabeth J., Lage, Kasper, Raychaudhuri, Soumya, Xavier, Ramnik J., Tatar, Diana, Benita, Yair, Cotsapas, Chris, Daly, Mark J., Franke, Andre, McGovern, Dermot P.B., Barrett, Jeffrey C., Wang, Kai, Radford-Smith, Graham L., Ahmad, Tariq, Lees, Charlie W., Balschun, Tobias, Lee, James, Roberts, Rebecca, Anderson, Carl A., Bis, Joshua C., Bumpstead, Suzanne, Ellinghaus, David, Festen, Eleonora M., Georges, Michel, Haritunians, Talin, Jostins, Luke, Latiano, Anna, Mathew, Christopher G., Montgomery, Grant W. ... Parkes, Miles (2011). Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology. PLoS Genetics, 7 (1) e1001273. doi: 10.1371/journal.pgen.1001273

The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects

Rizzi, Thais S., Arias-Vasquez, Alejandro, Rommelse, Nanda, Kuntsi, Jonna, Anney, Richard, Asherson, Philip, Buitelaar, Jan, Banaschewski, Tobias, Ebstein, Richard, Ruano, Dina, van der Sluis, Sophie, Markunas, Christina A., Garrett, Melanie E., Ashley-Koch, Allison E., Kollins, Scott H., Anastopoulos, Arthur D., Hansell, Narelle K., Wright, Margaret J., Montgomery, Grant W., Martin, Nicholas G., Harris, Sarah E., Davies, Gail, Tenesa, Albert, Porteous, David J., Starr, John M., Deary, Ian J., St. Pourcain, Beate, Smith, George Davey, Timpson, Nicholas J. ... Posthuma, Danielle (2011). The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 156 (2), 145-157. doi: 10.1002/ajmg.b.31149

The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data

Middeldorp, C. M., de Moor, M. H. M., McGrath, L. M., Gordon, S. D., Blackwood, D. H., Costa, P. T., Terracciano, A., Krueger, R. F., de Geus, E. J. C., Nyholt, D. R., Tanaka, T., Esko, T., Madden, P. A. F., Derringer, J., Amin, N., Willemsen, G., Hottenga, J-J., Distel, M. A., Uda, M., Sanna, S., Spinhoven, P., Hartman, C. A, Ripke, S., Sullivan, P. F., Realo, A., Allik, J., Heath, A. C., Pergadia, M. L., Agrawal, A. ... Boomsma, D. I. (2011). The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data. Translational Psychiatry, 1 (10) e50, e50.1-e50.8. doi: 10.1038/tp.2011.45

p53 mutation is common in microsatellite stable, BRAF mutant colorectal cancers

Bond, Catherine E., Umapathy, Aarti, Ramsnes, Ingunn, Greco, Sonia A., Zhao, Zhen Zhen, Mallitt, Kylie-Ann, Buttenshaw, Ron L., Montgomery, Grant W., Leggett, Barbara A. and Whitehall, Vicki L.J. (2011). p53 mutation is common in microsatellite stable, BRAF mutant colorectal cancers. International Journal of Cancer, 130 (7), 1567-1576. doi: 10.1002/ijc.26175

A simple and fast two-locus quality control test to detect false positives due to batch effects in genome-wide association studies

Lee, Sang Hong, Nyholt, Dale R., Macgregor, Stuart, Henders, Anjali K., Zondervan, Krina T., Montgomery, Grant W. and Visscher, Peter M. (2010). A simple and fast two-locus quality control test to detect false positives due to batch effects in genome-wide association studies. Genetic Epidemiology, 34 (8), 854-862. doi: 10.1002/gepi.20541

Dyslexia and DYX1C1: Deficits in reading and spelling associated with a missense mutation

Bates, T. C., Lind, P. A., Luciano, M., Montgomery, G. W., Martin, N. G. and Wright, M. J. (2010). Dyslexia and DYX1C1: Deficits in reading and spelling associated with a missense mutation. Molecular Psychiatry, 15 (12), 1190-1196. doi: 10.1038/mp.2009.120

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci

Franke, Andre, McGoven, Demot P. B., Barrett,Jeffrey C., Wangs, Kai, Radford-Smith, Graham L., Ahmad, Tariq, Lees, Charlie W., Balschun, Tobias, Lee, James, Roberts, Rebecca, Anderson, Carl A., Bis, Joshua C., Bumpstead,Suzanne, Ellinghaus, David, Festen, Eleonora M., Georges, Michel, Green, Todd, Haritunians, Talin, Jostinm, Luke, Latiano, Anna, Mathew, Christopher G., Montgomery, Grant, Prescott, Natalie J., Raychaudhuri, Soumya, Rotter.Jerome I., Schumm, Philip, Sharma,Yashoda, Simms, Lisa A., Taylor, Kent D, ... Parkes, Miles P (2010). Genome-wide meta-analysis increases to 71 the number of confirmed Crohn’s disease susceptibility loci. Nature Genetics, 42 (12), 1118-1125. doi: 10.1038/ng.717

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

Elks, C. E., Perry, J. R. B., Sulem, P., Chasman, D. I., Franceschini, N., He, C. Y., Lunetta, K. L., Visser, J. A., Byrne, E. M., Cousminer, D. L., Gudbjartsson, D. F., Esko, T., Feenstra, B., Hottenga, J. J., Koller, D. L., Kutalik, Z., Lin, P., Mangino, M., Marongiu, M., McArdle, P. F., Smith, A. V., Stolk, L., Van Wingerden, S. H., Zhao, J. H., Albrecht, E., Corre, T., Ingelsson, E., Hayward, C., Magnusson, P. K. E. ... GIANT Consortium (2010). Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. Nature Genetics, 42 (12), 1077-1085. doi: 10.1038/ng.714

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

Elizabeth K Speliotes, Cristen J Willer, Sonja I Berndt, Keri L Monda, Gudmar Thorleifsson, Anne U Jackson, Hana Lango Allen, Cecilia M Lindgren, Jian'an Luan, Reedik Magi, Joshua C Randall, Sailaja Vedantam, Thomas W Winkler, Lu Qi, Tsegaselassie Workalemahu, Iris M Heid, Valgerdur Steinthorsdottir, Heather M Stringham, Michael N Weedon, Eleanor Wheeler, Andrew R Wood, Teresa Ferreira, Robert J Weyant, Ayellet V Segre, Karol Estrada, Liming Liang, James Nemesh, Ju-Hyun Park, Stefan Gustafsson ... Ruth J F Loos (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nature Genetics, 42 (11), 937-948. doi: 10.1038/ng.686

The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12

Reed, Danielle R., Zhu, Gu, Breslin, Paul A. S., Duke, Fujiko F., Henders, Anjali K., Campbell, Megan J., Montgomery, Grant W., Medland, Sarah E., Martin, Nicholas G. and Wright, Margaret J. (2010). The perception of quinine taste intensity is associated with common genetic variants in a bitter receptor cluster on chromosome 12. Human Molecular Genetics, 19 (21) ddq324, 4278-4285. doi: 10.1093/hmg/ddq324

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Allen, Hana Lango, Estrada, Karol, Lettre, Guillaume, Berndt, Sonja I., Weedon, Michael N., Rivadeneira, Fernando, Willer, Cristen J., Jackson, Anne U., Vedantam, Sailaja, Raychaudhuri, Soumya, Nyholt, Dale, Martin, Nicholas G., Montgomery, Grant W. and Visscher, Peter M. (2010). Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467 (7317), 832-838. doi: 10.1038/nature09410

A genome-wide association study of Cloninger’s temperament scales: Implications for the evolutionary genetics of personality

Verweij, Kjh, Zietsch, BP, Medland, SE, Gordon, SD, Benyamin, B, Nyholt, DR, McEvoy, BP, Sullivan, PF, Heath, AC, Madden, PAF, Henders, AK, Montgomery, GW, Martin, NG and Wray, NR (2010). A genome-wide association study of Cloninger’s temperament scales: Implications for the evolutionary genetics of personality. Biological Psychology, 85 (2), 306-317. doi: 10.1016/j.biopsycho.2010.07.018

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population

Antoniou, Antonis C., Wang, Xianshu, Fredericksen, Zachary S., McGuffog, Lesley, Tarrell, Robert, Sinilnikova, Olga M., Healey, Sue, Morrison, Jonathan, Kartsonaki,Christiana, Lesnick, Timothy, Ghoussaini, Maya, Barrowdale, Daniel, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Eccles, Diana, Evans, D. Gareth, Eeles, Ros, Izatt, Louise, Chu, Carol, Douglas, Fiona, Paterson, Joan, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Mazoyer, Sylvie, Giraud, Sophie, Lasset, Christine, Remenieras, Audrey ... Lakhani, Sunil (2010). A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor–negative breast cancer in the general population. Nature Genetics, 42 (10), 885-892. doi: 10.1038/ng.669

A study of the TNF/LTA/LTB locus and susceptibility to severe malaria in highland papuan children and adults

Randall, LM, Kenangalem, E, Lampah, DA, Tjitra, E, Mwaikambo, ED, Handojo, T, Piera, KA, Zhao, ZZ, Rivera, FD, Zhou, YH, McSweeney, KM, Le, LE, Amante, FH, Haque, A, Stanley, AC, Woodberry, T, Salwati, E, Granger, DL, Hobbs, MR, Price, RN, Weinberg, JB, Montgomery, GW, Anstey, NM and Engwerda, CR (2010). A study of the TNF/LTA/LTB locus and susceptibility to severe malaria in highland papuan children and adults. Malaria Journal, 9 (1) 302, 302-1-302-9. doi: 10.1186/1475-2875-9-302

KCNN4 gene variant is associated with ileal Crohn's disease in the Australian and New Zealand population

Simms, Lisa A., Doecke, James D., Roberts, Rebecca L., Fowler, Elizabeth V., Zhao, Zhen Zhen, McGuckin, Michael A., Huang, Ning, Hayward, Nicholas K., Webb, Penelope M., Whiteman, David C., Cavanaugh, Juleen A., McCallum, Ruth, Florin, Timothy H. J., Barclay, Murray L., Gearry, Richard B., Merriman, Tony R., Montgomery, Grant W. and Radford-Smith, Graham L. (2010). KCNN4 gene variant is associated with ileal Crohn's disease in the Australian and New Zealand population. American Journal of Gastroenterology, 105 (10), 2209-2217. doi: 10.1038/ajg.2010.161

Biological, clinical and population relevance of 95 loci for blood lipids

Teslovich, Tanya M., Musunuru, Kiran, Smith, Albert V., Edmondson, Andrew C., Stylianou, Ioannis M., Koseki, Masahiro, Pirruccello, James P., Ripatti, Samuli, Chasman, Daniel I., Willer, Cristen J., Johansen, Christopher T., Fouchier, Sigrid W., Isaacs, Aaron, Peloso, Gina M., Barbalic, Maja, Ricketts, Sally L., Bis, Joshua C., Aulchenko, Yurii S., Thorleifsson, Gudmar, Feitosa, Mary F., Chambers, John, Orho-Melander, Marju, Melander, Olle, Johnson, Toby, Li, Xiaohui, Guo, Xiuqing, Li, Mingyao, Cho, Yoon Shin, Go, Min Jin ... Kathiresan, Sekar (2010). Biological, clinical and population relevance of 95 loci for blood lipids. Nature, 466 (7307), 707-713. doi: 10.1038/nature09270

A genome-wide association study of self-rated health

Mosing, Miriam A., Verweij, Karin J. H., Medland, Sarah E., Painter, Jodie, Gordon, Scott D., Heath, Andrew C., Madden, Pamela A., Montgomery, Grant W. and Martin, Nicholas G. (2010). A genome-wide association study of self-rated health. Twin Research and Human Genetics, 13 (4), 398-403. doi: 10.1375/twin.13.4.398

European and Polynesian admixture in the Norfolk Island population

McEvoy, B. P., Zhao, Z. Z., Macgregor, S., Bellis, C., Lea, R. A., Cox, H., Montgomery, G. W., Griffiths, L. R. and Visscher, P. M. (2010). European and Polynesian admixture in the Norfolk Island population. Heredity, 105 (2), 229-234. doi: 10.1038/hdy.2009.175

Multiple independent loci at chromosome 15q25.1 affect smoking quantity: A meta-analysis and comparison with lung cancer and COPD

Saccone, Nancy L., Culverhouse, Robert C., Schwantes-An, Tae-Hwi, Cannon, Dale S., Chen, Xiangning, Cichon, Sven, Giegling, Ina, Han, Shizhong, Han, Younghun, Keskitalo-Vuokko, Kaisu, Kong, Xiangyang, Landi, Maria Teresa, Ma, Jennie Z., Short, Susan E., Stephens, Sarah H., Stevens, Victoria L., Sun, Lingwei, Wang, Yufei, Wenzlaff, Angela S., Aggen, Steven H., Breslau, Naomi, Broderick, Peter, Chatterjee, Nilanjan, Chen, Jingchun, Heath, Andrew C., Heliovaara, Markku, Hoft, Nicole R., Hunter, David J., Jensen, Majken K. ... Bierut, Laura J. (2010). Multiple independent loci at chromosome 15q25.1 affect smoking quantity: A meta-analysis and comparison with lung cancer and COPD. PLoS Genetics, 6 (8) ARTN e1001053, 1-16. doi: 10.1371/journal.pgen.1001053

A versatile gene-based test for genome-wide association studies

Liu, Jimmy Z., McRae, Allan F., Nyholt, Dale R., Medland, Sarah E., Wray, Naomi R., Brown, Kevin M., AMFS Investigators, Hayward, Nicholas K., Montgomery, Grant W., Visscher, Peter M., Martin, Nicholas G. and Macgregor, Stuart (2010). A versatile gene-based test for genome-wide association studies. American Journal of Human Genetics, 87 (1), 139-145. doi: 10.1016/j.ajhg.2010.06.009

Age-related susceptibility to severe malaria associated with galectin-2 in highland Papuans

Randall, Louise M., Kenangalem, Enny, Lampah, Daniel A., Tjitra, Emiliana, Mwaikambo, Esther D., Handojo, Tjandra, Piera, Kim A., Zhao, Zhen Zhen, Rivera, Fabian de Labastida, Zhou, Yonghong, McSweeney, Karli M., Le, Lien, Amante, Fiona H., Haque, Ashraful, Stanley, Amanda C., Woodberry, Tonia, Salwati, Ervi, Granger, Donald L., Hobbs, Maurine R., Price, Ric N., Weinberg, J. Brice, Montgomery, Grant W., Anstey, Nicholas M. and Engwerda, Christian R. (2010). Age-related susceptibility to severe malaria associated with galectin-2 in highland Papuans. Journal of Infectious Diseases, 202 (1), 117-124. doi: 10.1086/653125

Association of Helicobacter pylori infection with reduced risk for esophageal cancer is independent of environmental and genetic modifiers

Whiteman, D.C., Parmar, P., Fahey, P., Moore, S.P., Stark, M., Zhao, Z.Z., Montgomery, G.W., Green, A.C., Hayward, N.K., Webb, P.M., Australian Cancer Study and Aoude, Lauren (2010). Association of Helicobacter pylori infection with reduced risk for esophageal cancer is independent of environmental and genetic modifiers. Gastroenterology, 139 (1), 73-83. doi: 10.1053/j.gastro.2010.04.009

Common SNPs explain a large proportion of the heritability for human height

Yang, Jian, Benyamin, Beben, McEvoy, Brian P., Gordon, Scott, Henders, Anjali K., Nyholt, Dale R., Madden, Pamela A., Heath, Andrew C., Martin, Nicholas G., Montgomery, Grant W., Goddard, Michael E. and Visscher, Peter M. (2010). Common SNPs explain a large proportion of the heritability for human height. Nature Genetics, 42 (7), 565-569. doi: 10.1038/ng.608

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

Macgregor, Stuart, Hewitt, Alex W., Hysi, Pirro G., Ruddle, Jonathan B., Medland, Sarah E., Henders, Anjali K., Gordon, Scott D., Andrew, Toby, McEvoy, Brian, Sanfilippo, Paul G., Carbonaro, Francis, Tah, Vikas, Li, Yi Ju, Bennett, Sonya L., Craig, Jamie E., Montgomery, Grant W., Tran-Viet, Khanh-Nhat, Brown, Nadean L., Spector, Timothy D., Martin, Nicholas G., Young, Terri L., Hammond, Christopher J. and Mackey, David A. (2010). Genome-wide association identifies ATOH7 as a major gene determining human optic disc size. Human Molecular Genetics, 19 (13) ddq144, 2716-2724. doi: 10.1093/hmg/ddq144

IRF4 variants have age-specific effects on nevus count and predispose to melanoma

Duffy, David L., Iles, Mark M., Glass, Dan, Zhu, Gu, Barrett, Jennifer H., Hoiom, Veronica, Zhao, Zhen Z., Sturm, Richard A., Soranzo, Nicole, Hammond, Chris, Kvaskoff, Marina, Whiteman, David C., Mangino, Massimo, Hansson, Johan, Newton-Bishop, Julia A., Bataille, Veronique, Hayward, Nicholas K., Martin, Nicholas G., Bishop, D. Timothy, Spector, Timothy D. and Montgomery, Grant W. (2010). IRF4 variants have age-specific effects on nevus count and predispose to melanoma. American Journal of Human Genetics, 87 (1), 6-16. doi: 10.1016/j.ajhg.2010.05.017

A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins

Painter, Jodie N., Willemsen, Gonneke, Nyholt, Dale, Hoekstra, Chantal, Duffy, David L., Henders, Anjali K., Wallace, Leanne, Healey, Sue, Cannon-Albright, Lisa A., Skolnick, Mark, Martin, Nicholas G., Boomsma, Dorret I. and Montgomery, Grant W. (2010). A genome wide linkage scan for dizygotic twinning in 525 families of mothers of dizygotic twins. Human Reproduction, 25 (6), 1569-1580. doi: 10.1093/humrep/deq084

Body composition, smoking, and spontaneous dizygotic twinning

Hoekstra, Chantal, Willemsen, Gonneke, Van Beijsterveldt, C. E. M. Toos, Lambalk, Cornelius B., Montgomery, Grant W. and Boomsma, Dorret I. (2010). Body composition, smoking, and spontaneous dizygotic twinning. Obstetrical and Gynecological Survey, 65 (6), 360-361. doi: 10.1097/OGX.0b013e3181e59df5

Dyslexia and DCDC2: Normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample

Lind, Penelope A., Luciano, Michelle, Wright, Margaret J., Montgomery, Grant W., Martin, Nicholas G. and Bates, Timothy C. (2010). Dyslexia and DCDC2: Normal variation in reading and spelling is associated with DCDC2 polymorphisms in an Australian population sample. European Journal of Human Genetics, 18 (6), 668-673. doi: 10.1038/ejhg.2009.237

Genetic effects on toxic and essential elements in humans: Arsenic, cadmium, copper, lead, mercury, selenium, and zinc in erythrocytes

Whitfield, John B., Dy, Veronica, McQuilty, Robert, Zhu, Gu, Heath, Andrew C., Montgomery, Grant W. and Martin, Nicholas G. (2010). Genetic effects on toxic and essential elements in humans: Arsenic, cadmium, copper, lead, mercury, selenium, and zinc in erythrocytes. Environmental Health Perspectives, 118 (6), 776-782. doi: 10.1289/ehp.0901541

The Netherlands Twin Register Biobank: A Resource for Genetic Epidemiological Studies

Willemsen, Gonneke, de Geus, Eco J. C., Bartels, Meike, van Beijsterveldt, C. E. M. Toos, Brooks, Andy I., Estourgie-van Burk, G. Frederique, Fugman, Douglas A., Hoekstra, Chantal, Hottenga, Jouke-Jan, Kluft, Kees, Meijer, Piet, Montgomery, Grant W., Rizzu, Patrizia, Sondervan, David, Smit, August B., Spijker, Sabine, Suchiman, H. Eka D., Tischfield, Jay A., Lehner, Thomas, Slagboom, P. Eline and Boomsma, Dorret I. (2010). The Netherlands Twin Register Biobank: A Resource for Genetic Epidemiological Studies. Twin Research and Human Genetics, 13 (3), 231-245. doi: 10.1375/twin.13.3.231

Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

Lu, Yi, Dimasi, David P., Hysi, Pirro G., Hewitt, Alex W., Burdon, Kathryn P., Toh, Tze'Yo, Ruddle, Jonathan B., Li, Yi Ju, Mitchell, Paul, Healey, Paul R., Montgomery, Grant W., Hansell, Narelle, Spector, Timothy D., Martin, Nicholas G., Young, Terri L., Hammond. Christopher J., Macgregor, Stuart, Craig, Jamie E. and Mackey, David A. (2010). Common genetic variants near the brittle cornea syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness. PLoS Genetics, 6 (5), e1000947.1-e1000947.10. doi: 10.1371/journal.pgen.1000947

Digital quantification of human eye color highlights genetic association of three new loci

Liu, Fan, Wollstein, Andreas, Hysi, Pirro G., Ankra-Badu, Georgina A., Spector, Timothy D., Park, Daniel, Zhu, Gu, Larsson, Mats, Duffy, David L., Montgomery, Grant W., Mackey, David A., Walsh, Susan, Lao, Oscar, Hofman, Albert, Rivadeneira, Fernando, Vingerling, Johannes R., Uitterlinden, Andrew G., Martin, Nicholas G., Hammond, Christopher J. and Kayser, Manfred (2010). Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genetics, 6 (5), e1000934-1-e1000934-15. doi: 10.1371/journal.pgen.1000934

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

Thorgeirsson, Thorgeir E., Gudbjartsson, Daniel F., Surakka, Ida, Vink, Jacqueline M., Amin, Najaf, Geller, Frank, Sulem, Patrick, Rafnar, Thorunn, Esko, Tōnu, Walter, Stefan, Gieger, Christian, Rawal, Rajesh, Mangino, Massimo, Prokopenko, Inga, Mägi, Reedik, Keskitalo, Kaisu, Gudjonsdottir, Iris H., Gretarsdottir, Solveig, Stefansson, Hreinn, Thompson, John R., Aulchenko, Yurii S., Nelis, Mari, Aben, Katja K., den Heijer, Martin, Dirksen, Asger, Ashraf, Haseem, Soranzo, Nicole, Valdes, Ana M., Steves, Claire ... Stefansson, Kari (2010). Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior. Nature Genetics, 42 (5), 448-454. doi: 10.1038/ng.573

A variant in LIN28B is Associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure

Medland, Sarah E., Zayats,Tetyana, Glaser, Beate, Nyholt, Dale R., Gordon,Scott D., Wright, Margaret J., Montgomery, Grant W., Campbell, Megan J., Henders, Anjali K., Timpson, Nicholas J., Peltonen, Leena, Wolke, Dieter, Ring, Susan M., Deloukas, Panos, Martin, Nicholas G., Smith, George Davey and Evans, David M. (2010). A variant in LIN28B is Associated with 2D:4D finger-length ratio, a putative retrospective biomarker of prenatal testosterone exposure. American Journal of Human Genetics, 86 (4), 519-525. doi: 10.1016/j.ajhg.2010.02.017

Genome-wide association study of height and body mass index in Australian twin families

Liu, Jimmy Z., Medland, Sarah E., Wright, Margaret J., Henders, Anjali K., Heath, Andrew C., Madden, Pamela A. F., Duncan, Alexis, Montgomery, Grant W., Martin, Nicholas G. and McRae, Allan F. (2010). Genome-wide association study of height and body mass index in Australian twin families. Twin Research And Human Genetics, 13 (2), 179-193. doi: 10.1375/twin.13.2.179

Characterization of the methylation patterns of MS4A2 in atopic cases and controls

M. A. R. Ferreira, N. A. Oates, J. van Vliet, Z. Z. Zhao, M. Ehrich, N. G. Martin, G. W. Montgomery, E. Whitelaw and D. L. Duffy (2010). Characterization of the methylation patterns of MS4A2 in atopic cases and controls. ALLERGY, 65 (3), 333-337. doi: 10.1111/j.1398-9995.2009.02135.x

A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations

Lind, Penelope A., Macgregor, Stuart, Vink, Jacqueline M., Pergadia, Michele L., Hansell, Narelle K., de Moor, Marleen H. M., Smit, August B., Hottenga, Jouke-Jan, Richter, Melinda M., Heath, Andrew C., Martin, Nicholas G., Willemsen, Gonneke, de Geus, Eco J. C., Vogelzangs,Nicole, Penninx, Brenda W., Whitfield, John B., Montgomery, Grant W., Boomsma, Dorret I. and Madden, Pamela A. F. (2010). A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations. Twin Research And Human Genetics, 13 (1), 10-29. doi: 10.1375/twin.13.1.10

Body composition, smoking, and spontaneous dizygotic twinning

Hoekstra, Chantal, Willemsen, Gonneke, van Beijsterveldt, Toos, Lambalk, Cornelius B., Montgomery, Grant W. and Boomsma, Dorret I. (2010). Body composition, smoking, and spontaneous dizygotic twinning. Fertility and Sterility, 93 (3), 885-893. doi: 10.1016/j.fertnstert.2008.10.012

Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma

Duffy, David L., Zhao, Zhen Z., Sturm, Richard A., Hayward, Nicholas K., Martin, Nicholas G. and Montgomery, Grant W. (2010). Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. Journal of Investigative Dermatology, 130 (2), 520-528. doi: 10.1038/jid.2009.258

Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control

Ferreira, Mar, Mangino, M, Brumme, CJ, Zhao, ZZ, Medland, SE, Wright, MJ, Nyholt, DR, Gordon, S, Campbell, M, McEvoy, BP, Henders, A, Evans, DM, Lanchbury, JS, Pereyra, F, Walker, BD, Haas, DW, Soranzo, N, Spector, TD, de Bakker, PIW, Frazer, IH, Montgomery, GW, Martin, NG and Int HIV Controllers Study (2010). Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control. American Journal of Human Genetics, 86 (1), 88-92. doi: 10.1016/j.ajhg.2009.12.008

H2 haplotype at chromosome 17q21.31 protects against childhood sexual abuse-associated risk for alcohol consumption and dependence

Nelson, Elliot C., Agrawal, Arpana, Pergadia, Michele L., Wang, Jen C., Whitfield, John B., Saccone, F. Scott, Kern, Jason, Grant, Julia D., Schrage, Andrew J., Rice, John P., Montgomery, Grant W., Heath, Andrew C, Goate, Alison M., Martin, Nicholas G. and Madden, Pamela A. F. (2010). H2 haplotype at chromosome 17q21.31 protects against childhood sexual abuse-associated risk for alcohol consumption and dependence. Addiction Biology, 15 (1), 1-11. doi: 10.1111/j.1369-1600.2009.00181.x

Linkage analysis of alcohol dependence symptoms in the community

Hansell, Narelle K., Agrawal, Arpana, Whitfield, John B., Morley, Katherine I., Gordon, Scott D., Lind, Penelope A., Pergadia, Michele L., Montgomery, Grant W., Madden, Pamela A. F., Todd, Richard D., Heath, Andrew C. and Martin, Nicholas G. (2010). Linkage analysis of alcohol dependence symptoms in the community. Alcoholism: Clinical and Experimental Research, 34 (1), 158-163. doi: 10.1111/j.1530-0277.2009.01077.x

Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries

Prodoehl, Mark J., Hatzirodos, Nicholas, Irving-Rodgers, Helen F., Zhao, Zhen Z., Painter, Jodie N., Hickey, Theresa E., Gibson, Mark A., Rainey, William E., Carr, Bruce R., Mason, Helen D., Norman, Robert J., Montgomery, Grant W. and Rodgers, Raymond J. (2009). Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries. Molecular Human Reproduction, 15 (12) gap072, 829-841. doi: 10.1093/molehr/gap072

Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans

Medland, S, Nyholt, D, Painter, JN, McEnvoy, BP, Allan McRae, Zhu, G, Gordon, SD, Ferreira, MAR, Wright, MJ, Henders, AK, Campbell MJ, Duffy, D, Hansell, N K, Macgregor, S, Slutske, WS, Heath, AC, Montgomery, GW and Martin, NG (2009). Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans. American Journal of Human Genetics, 85 (5), 750-755. doi: 10.1016/j.ajhg.2009.10.009

Do 5HTTLPR and stress interact in risk for depression and suicidality? Item response analyses of a large sample

William L. Coventry, Michael R. James, Lindon J. Eaves, Scott D. Gordon, Nathan A. Gillespie, Leanne Ryan, Andrew C. Heath, Grant W. Montgomery, Nicholas G. Martin and Naomi R. Wray (2009). Do 5HTTLPR and stress interact in risk for depression and suicidality? Item response analyses of a large sample. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 153b (3), 757-765. doi: 10.1002/ajmg.b.31044

Common variants in TMPRSS6 are associated with iron status and erythrocyte volume

Benyamin, B, Ferreira, MAR, Willemsen, G, Gordon, S, Middelberg, RPS, McEvoy, BP, Hottenga, JJ, Henders, AK, Campbell, MJ, Wallace, L, Frazer, IH, Heath, AC, de Geus, EJC, Nyholt, DR, Visscher, PM, Penninx, BW, Boomsma, DI, Martin, NG, Montgomery, GW and Whitfield, JB (2009). Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nature Genetics, 41 (11), 1173-1175. doi: 10.1038/ng.456

Genome-wide Association Studies and Human Disease From Trickle to Flood

Visscher, Peter M. and Montgomery, Grant W. (2009). Genome-wide Association Studies and Human Disease From Trickle to Flood. Jama-Journal of the American Medical Association, 302 (18), 2028-2029. doi: 10.1001/jama.2009.1643

Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume

Ferreira, MAR, Hottenga, JJ, Warrington, NM, Medland, SE, Willemsen, G, Lawrence, RW, Gordon, S, de Geus, EJC, Henders, AK, Smit, JH, Campbell, MJ, Wallace, L, Evans, DM, Wright, MJ, Nyholt, DR, James, AL, Beilby, JP, Penninx, BW, Palmer, LJ, Frazer, IH, Montgomery, GW, Martin, NG and Boomsma, DI (2009). Sequence Variants in Three Loci Influence Monocyte Counts and Erythrocyte Volume. AMERICAN JOURNAL OF HUMAN GENETICS, 85 (5), 745-749. doi: 10.1016/j.ajhg.2009.10.005

Association and interaction analyses of eight genes under asthma linkage peaks

Ferreira, M. A. R., Zhao, Z. Z., Thomsen, S. F., James, M., Evans, D. M., Postmus, P. E., Kyvik, K. O., Backer, V., Boomsma, D. I., Martin, N. G., Montgomery, G. W. and Duffy, D. L. (2009). Association and interaction analyses of eight genes under asthma linkage peaks. Allergy, 64 (11), 1623-1628. doi: 10.1111/j.1398-9995.2009.02091.x

Quantitative Genetic Analysis of the Retinal Vascular Caliber: The Australian Twins Eye Study

Sun, Cong, Zhu, Gu, Wong, Tien Y, Hewitt, Alex W, Ruddle, Jonathan B, Hodgson, Lauren, Montgomery, Grant W, Young, Terri L, Hammond, Christopher J, Craig, Jamie E, Martin, Nicholas G, He, Mingguang and Mackey, David A. (2009). Quantitative Genetic Analysis of the Retinal Vascular Caliber: The Australian Twins Eye Study. Hypertension, 54 (4), 788-795. doi: 10.1161/HYPERTENSIONAHA.109.132902

Rapid inexpensive genome-wide association using pooled whole blood

Jamie E. Craig, Alex W. Hewitt, Amy E. McMellon, Anjali K. Henders, Lingjun Ma, Leanne Wallace, Shiwani Sharma, Kathryn P. Burdon, Peter M. Visscher, Grant W. Montgomery and Stuart MacGregor (2009). Rapid inexpensive genome-wide association using pooled whole blood. Genome Research, 19 (11), 2075-2080. doi: 10.1101/gr.094680.109

Family-based mitochondrial association study of traits related to type 2 diabetes and the metabolic syndrome in adolescents

E. M. Byrne, A. F. McRae, D. L. Duffy, Z. Z. Zhao, N. G. Martin, J. B. Whitfield, P. M. Visscher and G. W. Montgomery (2009). Family-based mitochondrial association study of traits related to type 2 diabetes and the metabolic syndrome in adolescents. Diabetologia, 52 (11), 2359-2368. doi: 10.1007/s00125-009-1510-9

Accurate, Large-Scale Genotyping of 5HTTLPR and Flanking Single Nucleotide Polymorphisms in an Association Study of Depression, Anxiety, and Personality Measures

Naomi R. Wray, Michael R. James, Scott D. Gordon, Troy Dumenil, Leanne Ryan, William L. Coventry, Dixie J. Statham, Michele L. Pergadia, Pamela A.F. Madden, Andrew C. Heath, Grant W. Montgomery and Nicholas G. Martin (2009). Accurate, Large-Scale Genotyping of 5HTTLPR and Flanking Single Nucleotide Polymorphisms in an Association Study of Depression, Anxiety, and Personality Measures. Biological Psychiatry, 66 (5), 468-476. doi: 10.1016/j.biopsych.2009.04.030

Association Study of Common Mitochondrial Variants and Cognitive Ability

Byrne, EM, McRae, AF, Duffy, DL, Zhao, ZZ, Martin, NG, Wright, MJ, Montgomery, GW and Visscher, PM (2009). Association Study of Common Mitochondrial Variants and Cognitive Ability. BEHAVIOR GENETICS, 39 (5), 504-512. doi: 10.1007/s10519-009-9276-x

Multicenter dizygotic twin cohort study confirms two linkage susceptibility loci for body mass index at 3q29 and 7q36 and identifies three further potential novel loci

J Kettunen, M Perola, N G Martin, B K Cornes, S G Wilson, G W Montgomery, B Benyamin, J R Harris, D Boomsma, G Willemsen, J-J Hottenga, P E Slagboom, K Christensen, K O Kyvik, T I A Sørensen, N L Pedersen, P K E Magnusson, T Andrew, T D Spector, E Widen, K Silventoinen, J Kaprio, A Palotie and L Peltonen (2009). Multicenter dizygotic twin cohort study confirms two linkage susceptibility loci for body mass index at 3q29 and 7q36 and identifies three further potential novel loci. International Journal of Obesity, 33 (11), 1235-1242. doi: 10.1038/ijo.2009.168

Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan.

Matthew C. Keller, Allan F. McRae, Julie M. McGaughran, Peter M. Visscher, Nicholas G. Martin and Grant W. Montgomery (2009). Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan.. American Journal of Medical Genetics. Part A, 149A (8), 1823-1826. doi: 10.1002/ajmg.a.32973

Genome-wide association study identifies three loci associated with melanoma risk

Bishop, DT, Demenais, F, Iles, MM, Harland, M, Taylor, JC, Corda, E, Randerson-Moor, J, Aitken, JF, Avril, MF, Azizi, E, Bakker, B, Bianchi-Scarra, G, Bressac-de Paillerets, B, Calista, D, Cannon-Albright, LA, Chin-A-Woeng, T, Debniak, T, Galore-Haskel, G, Ghiorzo, P, Gut, I, Hansson, J, Hocevar, M, Hoiom, V, Hopper, JL, Ingvar, C, Kanetsky, PA, Kefford, RF, Landi, MT, Lang, J ... Bishop, JAN (2009). Genome-wide association study identifies three loci associated with melanoma risk. Nature Genetics, 41 (8), 920-925. doi: 10.1038/ng.411

Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi

Falchi, M, Bataille, V, Hayward, NK, Duffy, DL, Bishop, JAN, Pastinen, T, Cervino, A, Zhao, ZZ, Deloukas, P, Soranzo, N, Elder, DE, Barrett, JH, Martin, NG, Bishop, DT, Montgomery, GW and Spector, TD (2009). Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi. Nature Genetics, 41 (8), 915-919. doi: 10.1038/ng.410

Genetic variation in female BMI increases with number of children born but failure to replicate association between GN beta 3 variants and increased BMI in parous females

Cornes, Belinda K., Medland, Sarah E., Lind, Penelope A., Nyholt, Dale R., Montgomery, Grant W. and Martin, Nicholas G. (2009). Genetic variation in female BMI increases with number of children born but failure to replicate association between GN beta 3 variants and increased BMI in parous females. Twin Research and Human Genetics, 12 (3), 276-285. doi: 10.1375/twin.12.3.276

Geographical structure and differential natural selection among North European populations

Brian P. McEvoy, Grant W. Montgomery, Allan F. McRae, Samuli Ripatti, Markus Perola, Tim D. Spector, Lynn Cherkas, Kourosh R. Ahmadi, Dorret Boomsma, Gonneke Willemsen, Jouke J. Hottenga, Nancy L. Pedersen, Patrik K.E. Magnusson, Kirsten Ohm Kyvik, Kaare Christensen, Jaakko Kaprio, Kauko Heikkilä, Aarno Palotie, Elisabeth Widen, Juha Muilu, Ann-Christine Syvänen, Ulrika Liljedahl, Orla Hardiman, Simon Cronin, Leena Peltonen, Nicholas G. Martin and Peter M. Visscher (2009). Geographical structure and differential natural selection among North European populations. Genome Research, 19 (5), 804-814. doi: 10.1101/gr.083394.108

Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma

Zhao, ZZ, Duffy, DL, Thomas, SA, Martin, NG, Hayward, NK and Montgomery, GW (2009). Polymorphisms in the syntaxin 17 gene are not associated with human cutaneous malignant melanoma. Melanoma Research, 19 (2), 80-85. doi: 10.1097/CMR.0b013e328322fc45

Priorities for endometriosis research: recommendations from an international consensus workshop

Rogers, Peter A. W., D'Hooghe, Thomas M., Fazleabas, Asgerally, Gargett, Caroline E., Giudice, Linda C., Montgomery, Grant W., Rombauts, Luk, Salamonsen, Lois A. and Zondervan, Krina T. (2009). Priorities for endometriosis research: recommendations from an international consensus workshop. Reproductive Sciences, 16 (4), 335-346. doi: 10.1177/1933719108330568

Two Corpora Lutea Seen at 6-13 Weeks' Gestation Infers Dizygosity Among Spontaneous Same-Sexed Dichorionic Twins

Woo, Jean, Tong, Stephen, Campbell, Megan J., Wallace, Leanne, Meagher, Simon, Montgomery, Grant W., Chao, Fay, Chan, Weng and Vollenhoven, Beverley (2009). Two Corpora Lutea Seen at 6-13 Weeks' Gestation Infers Dizygosity Among Spontaneous Same-Sexed Dichorionic Twins. Twin Research and Human Genetics, 12 (2), 180-182. doi: 10.1375/twin.12.2.180

Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerstrom test for nicotine dependence

Agrawal, Arpana, Pergadia, Michele L., Balasubramanian, Sumitra, Saccone, Scott F., Hinrichs, Anthony L., Saccone, Nancy L., Breslau, Naomi, Johnson, Eric O., Hatsukami, Dorothy, Martin, Nicholas G., Montgomery, Grant W., Goate, Alison M., Rice, John P., Bierut, Laura J. and Madden, Pamela A.F. (2009). Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerstrom test for nicotine dependence. Addiction, 104 (3), 471-477. doi: 10.1111/j.1360-0443.2008.02445.x

Association of childhood trauma exposure and GABRA2 polymorphisms with risk of posttraumatic stress disorder in adults

Nelson, E. C., Agrawal, A., Pergadia, M. L., Lynskey, M. T., Todorov, A. A., Wang, J. C., Todd, R. D., Martin, N. G., Heath, A. C., Goate, A. M., Montgomery, G. W. and Madden, P. A. F. (2009). Association of childhood trauma exposure and GABRA2 polymorphisms with risk of posttraumatic stress disorder in adults. Molecular Psychiatry, 14 (3), 234-235. doi: 10.1038/mp.2008.81

ADH single nucleotide polymorphism associations with alcohol metabolism in vivo

Andrew J. Birley, Michael R. James, Peter A. Dickson, Grant W. Montgomery, Andrew C. Heath, Nicholas G. Martin and John B. Whitfield (2009). ADH single nucleotide polymorphism associations with alcohol metabolism in vivo. Human Molecular Genetics, 18 (8), 1533-1542. doi: 10.1093/hmg/ddp060

Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis

Stuart Macgregor, Penelope A. Lind, Kathleen K. Bucholz, Narelle K. Hansell, Pamela A.F. Madden, Melinda M. Richter, Grant W. Montgomery, Nicholas G. Martin, Andrew C. Heath and John B. Whitfield (2009). Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis. Human Molecular Genetics, 18 (3), 580-593. doi: 10.1093/hmg/ddn372

Common genetic influences underlie comorbidity of migraine and endometriosis

Nyholt, Dale R., Gillespie, Nathan G., Merikangas, Kathleen R., Treloar, Susan A., Martin, Nicholas G. and Montgomery, Grant W. (2009). Common genetic influences underlie comorbidity of migraine and endometriosis. Genetic Epidemiology, 33 (2), 105-113. doi: 10.1002/gepi.20361

Genetic linkage findings for DSM-IV nicotine withdrawal in two populations

Michele L. Pergadia, Arpana Agrawal, Anu Loukola, Grant W. Montgomery, Ulla Broms, Scott F. Saccone, Jen C. Wang, Alexandre A. Todorov, Kauko Heikkilä, Dixie J. Statham, Anjali K. Henders, Megan J. Campbell, John P. Rice, Richard D. Todd, Andrew C. Heath, Alison M. Goate, Leena Peltonen, Jaakko Kaprio, Nicholas G. Martin and Pamela A.F. Madden (2009). Genetic linkage findings for DSM-IV nicotine withdrawal in two populations. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 150b (7), 950-959. doi: 10.1002/ajmg.b.30924

Can We Identify Genes For Alcohol Consumption In Samples Ascertained For Heterogeneous Purposes?

Narelle K. Hansell, Arpana Agrawal, John B. Whitfield, Katherine I. Morley, Scott D. Gordon, Penelope A. Lind, Michele L. Pergadia, Grant W. Montgomery, Pamela A. F. Madden, Richard D. Todd, Andrew C. Heath and Nicholas G. Martin (2009). Can We Identify Genes For Alcohol Consumption In Samples Ascertained For Heterogeneous Purposes?. Alcoholism: Clinical and Experimental Research, 33 (4), 729-739. doi: 10.1111/j.1530-0277.2008.00890.x

DNA methylation profiles in monozygotic and dizygotic twins

Zachary A Kaminsky, Thomas Tang, Sun-Chong Wang, Carolyn Ptak, Gabriel H T Oh, Albert H C Wong, Laura A Feldcamp, Carl Virtanen, Jonas Halfvarson, Curt Tysk, Allan F McRae, Peter M Visscher, Grant W Montgomery, Irving I Gottesman, Nicholas G Martin and Art Petronis (2009). DNA methylation profiles in monozygotic and dizygotic twins. Nature Genetics, 41 (2), 240-245. doi: 10.1038/ng.286

Variants in TF and HFE Explain 40% of Genetic Variation in Serum-Transferrin Levels

Beben Benyamin, Allan F. McRae, Gu Zhu, Scott Gordon, Anjali K. Henders, Aarno Palotie, Leena Peltonen, Nicholas G. Martin, Grant W. Montgomery, John B. Whitfield and Peter M. Visscher (2009). Variants in TF and HFE Explain 40% of Genetic Variation in Serum-Transferrin Levels. American Journal of Human Genetics, 84 (1), 60-65. doi: 10.1016/j.ajhg.2008.11.011

Replication of the association of common rs9939609 variant of FTO with increased BMI in an Australian adult twin population but no evidence for gene by environment (G × E) interaction

Cornes, B., Lind, P. A., Medland, S. E., Montgomery, G. W ., Nyholt, D. R. and Martin, N. G . (2009). Replication of the association of common rs9939609 variant of FTO with increased BMI in an Australian adult twin population but no evidence for gene by environment (G × E) interaction. International Journal of Obesity, 33 (1), 75-79. doi: 10.1038/ijo.2008.223

Familial twinning and fertility in Dutch mothers of twins

Hoekstra, Chantal, Willemsen, Gonneke, van Beijsterveldt, Toos C. E. M., Montgomery, Grant W. and Boomsma, Dorret I. (2008). Familial twinning and fertility in Dutch mothers of twins. American Journal of Medical Genetics, Part A, 146A (24), 3147-3156. doi: 10.1002/ajmg.a.32585

Autosomal linkage analysis for cannabis use behaviors in Australian adults

Agrawal, Arpana, Morley, Katherine I., Hansell, Narelle K., Pergadia, Michele L., Montgomery, Grant W., Statham, Dixie J., Todd, Richard D., Madden, Pamela A. F., Heath, Andrew C., Whitfield, John, Martin, Nicholas G. and Lynskey, Michael T. (2008). Autosomal linkage analysis for cannabis use behaviors in Australian adults. Drug and Alcohol Dependence, 98 (3), 185-190. doi: 10.1016/j.drugalcdep.2008.05.009

Linkage and Association Analyses of Longitudinally Measured Lipid Phenotypes in Adolescence

Middelberg, Rita P., Gordon, Scott D., Zhu, Gu, McRae, Allan, Montgomery, Grant W., Martin, Nicholas G. and Whitfield, John B. (2008). Linkage and Association Analyses of Longitudinally Measured Lipid Phenotypes in Adolescence. Twin Research and Human Genetics, 11 (6), 603-620. doi: 10.1375/twin.11.6.603

A high-density association screen of 155 ion transport genes for involvement with common migraine

Nyholt, Dale R., LaForge, K. Steven, Kallela, Mikko, Alakurtti, Kirsi, Anttila, Verneri, Farkkila, Markus, Hamalainen, Eija, Kaprio, Jaakko, Kaunisto, Mari A., Heath, Andrew C., Montgomery, Grant W., Goebel, Hartmut, Todt, Unda, Ferrari, Michel D., Launer, Lenore J., Frants, Rune R., Terwindt, Gisela M., de Vries, Boukje, Verschuren, W. M. Monique, Brand, Jan, Freilinger, Tobias, Pfaffenrath, Volker, Straube, Andreas, Ballinger, Dennis G., Zhan, Yiping, Daly, Mark J., Cox, David R., Dichgans, Martin, van den Maagdenberg, Arn M. J. M. ... Palotie, Aarno (2008). A high-density association screen of 155 ion transport genes for involvement with common migraine. Human Molecular Genetics, 17 (21), 3318-3331. doi: 10.1093/hmg/ddn227

Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language

Bates, Timothy C., Luciano, Michelle, Lind, Penelope A., Wright, Margaret J., Montgomery, Grant W. and Martin, Nicholas G. (2008). Recently-derived variants of brain-size genes ASPM, MCPH1, CDK5RAP and BRCA1 not associated with general cognition, reading or language. Intelligence, 36 (6), 689-693. doi: 10.1016/j.intell.2008.04.001

Susceptibility variants for male-pattern baldness on chromosome 20p11

Hillmer, Axel M., Brockschmidt, Felix F., Hanneken, Sandra, Eigelshoven, Sibylle, Steffens, Michael, Flaquer, Antonia, Herms, Stefan, Becker, Tim, Kortuem, Anne-Katrin, Nyholt, Dale R., Zhao, Zhen Zhen, Montgomery, Grant W., Martin, Nicholas G., Muehleisen, Thomas W., Alblas, Margrieta A., Moebus, Susanne, Joeckel, Karl-Heinz, Broecker-Preuss, Martina, Erbel, Raimund, Reinartz, Roman, Betz, Regina C., Cichon, Sven, Propping, Peter, Baur, Max P., Wienker, Thomas F., Kruse, Roland and Noethen, Markus M. (2008). Susceptibility variants for male-pattern baldness on chromosome 20p11. Nature Genetics, 40 (11), 1279-1281. doi: 10.1038/ng.228

The use of common mitochondrial variants to detect and characterise population structure in the Australian population: Implications for genome-wide association studies

Byrne, Enda M., Mcrae, Allan F., Zhao, Zhen-Zhen, Martin, Nicholas G., Montgomery, Grant W. and Visscher, Peter M. (2008). The use of common mitochondrial variants to detect and characterise population structure in the Australian population: Implications for genome-wide association studies. European Journal of Human Genetics, 16 (11), 1396-1403. doi: 10.1038/ejhg.2008.117

Comprehensive analysis of tagging sequence variants in DTNBP1 shows no association with schizophrenia or with its composite neurocognitive endophenotypes

Peters, Kirsten, Wiltshire, Steven, Henders, Anjali K., Dragovic, Milan, Badcock, Johanna C., Chandler, David, Howell, Sarah, Ellis, Chris, Bouwer, Sonja, Montgomery, Grant W., Palmer, Lyle J., Kalaydjieva, Luba and Jablensky, Assen (2008). Comprehensive analysis of tagging sequence variants in DTNBP1 shows no association with schizophrenia or with its composite neurocognitive endophenotypes. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 147B (7), 1159-1166. doi: 10.1002/ajmg.b.30741

A genome-wide linkage scan for age at menarche in three populations of European descent

Anderson, Carl A., Zhu, Gu, Falchi, Mario, van den Berg, Stéphanie M., Treloar, Susan A., Spector, Timothy D., Martin, Nicholas G., Boomsma, Dorret I., Visscher, Peter M. and Montgomery, Grant W. (2008). A genome-wide linkage scan for age at menarche in three populations of European descent. Journal of Clinical Endocrinology and Metabolism., 93 (10), 3965-3970. doi: 10.1210/jc.2007-2568

ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: Further support for significant disease heterogeneity

Fowler, Elizabeth V., Doecke, James, Simms, Lisa A., Zhao, Zhen Zhen, Webb, Penelope M., Hayward, Nicholas K., Whiteman, David C., Florin, Timothy H., Montgomery, Grant W., Cavanaugh, Juleen A. and Radford-Smith, Graham L. (2008). ATG16L1 T300A shows strong associations with disease subgroups in a large Australian IBD population: Further support for significant disease heterogeneity. The American Journal of Gastroenterology, 103 (10), 2519-2526. doi: 10.1111/j.1572-0241.2008.02023.x

The role of GABRA2 in alcohol dependence, smoking, and illicit drug use in an Australian population sample

Lind, Penelope A., Macgregor, Stuart, Agrawal, Arpana, Montgomery, Grant W., Heath, Andrew C., Martin, Nicholas G. and Whitfield, John B. (2008). The role of GABRA2 in alcohol dependence, smoking, and illicit drug use in an Australian population sample. Alcoholism: Clinical and Experimental Research, 32 (10), 1721-1731. doi: 10.1111/j.1530-0277.2008.00768.x

Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning

Zhao, Zhen Zhen, Painter, Jodie N., Palmer, James S., Webb, Penelope M., Hayward, Nicholas K., Whiteman, David C., Boomsma, Dorret I., Martin, Nicholas G., Duffy, David L. and Montgomery, Grant W. (2008). Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning. Human Reproduction, 23 (10), 2372-2379. doi: 10.1093/humrep/den268

Vitamin D receptor gene polymorphisms have negligible effect on human height

Macgregor, Stuart, Hottenga, Jouke-Jan, Lind, Penelope A., Suchiman, H. Eka D., Willemsen, Gonneke, Slagboom, P. Eline, Montgomery, Grant W., Martin, Nicholas G., Visscher, Peter M. and Boomsma, Dorret I. (2008). Vitamin D receptor gene polymorphisms have negligible effect on human height. Twin Research and Human Genetics, 11 (5), 488-494. doi: 10.1375/twin.11.5.488

Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis

Zhao, Zhen Zhen, Nyholt, Dale R., Thomas, Shane, Treloar, Susan A. and Montgomery, Grant W. (2008). Polymorphisms in the vascular endothelial growth factor gene and the risk of familial endometriosis. Molecular Human Reproduction, 14 (9), 531-538. doi: 10.1093/molehr/gan043

The search for genes contributing to endometriosis risk

Montgomery, Grant W., Nyholt, Dale R., Zhao, Zhen Zhen, Treloar, Susan A., Painter, Jodie N., Missmer, Stacey A., Zondervan, Krina T. and Kennedy, Stephen H. (2008). The search for genes contributing to endometriosis risk. Human Reproduction Update, 14 (5), 447-457. doi: 10.1093/humupd/dmn016

Erratum: Testing replication of a 5-SNP set for general cognitive ability in six population samples (European Journal of Human Genetics (2008) 10.1038/ejhg.2008.100)

Luciano, Michelle, Lind, Penelope A., Deary, Ian J., Payton, Antony, Posthuma, Danielle, Butcher, Lee M., Bochdanovits, Zoltan, Whalley, Lawrence J., Visscher, Peter M., Harris, Sarah E., Polderman, Tinca J.C., Davis, Oliver S.P., Wright, Margaret J., Starr, John M., de Geus, Eco J.C., Bates, Timothy C., Montgomery, Grant W., Boomsma, Dorret I., Martin, Nicholas G. and Plomin, Robert (2008). Erratum: Testing replication of a 5-SNP set for general cognitive ability in six population samples (European Journal of Human Genetics (2008) 10.1038/ejhg.2008.100). European Journal of Human Genetics, 16 (8), 1025-1025. doi: 10.1038/ejhg.2008.124

Suggestive linkage on chromosome 2, 8, and 17 for lifetime major depression

Middeldorp, CM, Sullivan, PF, Wray, NR, Hottenga, JJ, de Geus, EJC, van den Berg, M, Montgomery, GW, Coventry, WL, Statham, DJ, Andrews, G, Slagboom, PE, Boomsma, DI and Martin, NG (2008). Suggestive linkage on chromosome 2, 8, and 17 for lifetime major depression. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 150B (3), 352-358. doi: 10.1002/ajmg.b.30817

Common sequence variants on 20q11.22 confer melanoma susceptibility

Brown, K. M., MacGregor, S., Montgomery, G. W., Craig, D. W., Zhao, Z. Z., Iyadurai, K., Henders, A. K., Homer, N., Campbell, M. J., Stark, M., Thomas, S., Schmid, H., Maskiell, J. A., Jetann, J., Ferguson, M., Stephan, D. A., Cust, A. E., Whiteman, D. C., Green, A., Olsson, H., Puig, S., Ghiorzo, P., Hansson, J., Demenais, F., Goldstein, A. M., Gruis, N. A., Elder, D. E., Newton Bishop, J., Kefford, R. F. ... Hayward, N. (2008). Common sequence variants on 20q11.22 confer melanoma susceptibility. Nature Genetics, 40 (7), 838-840. doi: 10.1038/ng.163

Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk

Zhao, Zhu Zhen, Pollock, Pamela M., Thomas, Shane, Treloar, Susan A., Nyholt, Dale R. and Montgomery, Grant W. (2008). Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk. Human Reproduction, 23 (7), 1661-1668. doi: 10.1093/humrep/den035

Measuring carbohydrate-deficient transferrin by direct immunoassay: factors affecting diagnostic sensitivity for excessive alcohol intake

Whitfield, John B., Day, Veronica, Madden, Pamela A. F., Heath, Andrew C., Martin, Nicholas G. and Montgomery, Grant W. (2008). Measuring carbohydrate-deficient transferrin by direct immunoassay: factors affecting diagnostic sensitivity for excessive alcohol intake. Clinical Chemistry, 54 (7), 1158-1165. doi: 10.1373/clinchem.2007.101733

An autosomal linkage scan for cannabis use disorders in the nicotine addiction genetics project

Agrawal, Arpana, Pergadia, Michele. L., Saccone, Scott F., Lynskey, Michael T., Wang, Jen C., Martin, Nicholas G., Statham, Dixie, Henders, Anjali, Campbell, Megan, Garcia, Robertino, Broms, Ulla, Todd, Richard D., Goate, Alison M., Rice, John, Kaprio, Jaakko, Heath, Andrew C., Montgomery, Grant W. and Madden, Pamela A. F. (2008). An autosomal linkage scan for cannabis use disorders in the nicotine addiction genetics project. Archives of General Psychiatry, 65 (6), 713-722. doi: 10.1001/archpsyc.65.6.713

Gamma-aminobutyric acid receptor genes and nicotine dependence: Evidence for association from a case-control study

Agrawal, Arpana, Pergadia, Michele L., Saccone, Scott F., Hinrichs, Anthony L., Lessov-Schlaggar, Christina N., Saccone, Nancy L., Neuman, Rosalind J., Breslau, Naomi, Johnson, Eric, Hatsukami, Dorothy, Montgomery, Grant W., Heath, Andrew C., Martin, Nicholas G., Goate, Alison M., Rice, John P., Bierut, Laura J. and Madden, Pamela A. F. (2008). Gamma-aminobutyric acid receptor genes and nicotine dependence: Evidence for association from a case-control study. Addiction, 103 (6), 1027-1038. doi: 10.1111/j.1360-0443.2008.02236.x

Genetic Dissection of Myopia Evidence for Linkage of Ocular Axial Length to Chromosome 5q

Zhu, Gu, Hewitt, Alex W., Ruddle, Jonathan B., Kearns, Lisa S., Brown, Shayne A., Mackinnon, Jane R., Chen, Christine Y., Hammond, Christopher J., Craig, Jamie E., Montgomery, Grant W., Martin, Nicholas G. and Mackey, David A. (2008). Genetic Dissection of Myopia Evidence for Linkage of Ocular Axial Length to Chromosome 5q. Ophthalmology, 115 (6), 1053-1057. doi: 10.1016/j.ophtha.2007.08.013

Mode of conception of twin pregnancies: willingness to reply to survey items and comparison of survey data to hospital records

van Beijsterveldt, C. E. M. Toos, Hoekstra, Chantal, Schats, Roel, Montgomery, Grant W., Willemsen, Gonneke and Boomsma, Dorret I. (2008). Mode of conception of twin pregnancies: willingness to reply to survey items and comparison of survey data to hospital records. Twin Research and Human Genetics, 11 (3), 349-351. doi: 10.1375/twin.11.3.349

Power and SNP tagging in whole mitochondrial genome association studies

McRae, Allan F., Byrne, Enda M., Zhao, Zhen Zhen, Montgomery, Grant W. and Visscher, Peter M. (2008). Power and SNP tagging in whole mitochondrial genome association studies. Genome Research, 18 (6), 911-917. doi: 10.1101/gr.074872.107

Consistently replicating locus linked to migraine on 10q22-q23

Anttila, Verneri, Nyholt, Dale R., Kallela, Mikko, Artto, Ville, Vepsalainen, Salli, Jakkula, Eveliina, Wennerstrom, Annika, Tikka-Kleemola, Paeivi, Kaunisto, Mari A., Hamalainen, Eija, Widen, Elisabeth, Terwilliger, Joseph, Merikangas, Kathleen, Montgomery, Grant W., Martin, Nicholas G., Daly, Mark, Kaprio, Jaakko, Peltonen, Leena, Farkkila, Markus, Wessman, Maija and Palotie, Aarno (2008). Consistently replicating locus linked to migraine on 10q22-q23. American Journal of Human Genetics, 82 (5), 1051-1063. doi: 10.1016/j.ajhg.2008.03.003

A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation

Han, J., Kraft, P., Nan, H., Guo, Q., Chen, C., Qureshi, A., Hankinson, S.E., Hu, F.B., Duffy, D., Zhao, Z.Z., Martin, N. G., Montgomery, G., Hayward, N., Thomas, G., Hoover, R.N., Chanock, S. and Hunter, D.J. (2008). A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. Plos Genetics, 4 (5) e1000074, e1000074. doi: 10.1371/journal.pgen.1000074

Spectrophotometric methods for quantifying pigmentation in human hair - influence of MC1R genotype and environment

Shekar, Sri N., Duffy, David L., Frudakis, Tony, Montgomery, Grant W., James, Michael R., Sturm, Richard A. and Martin, Nicholas G. (2008). Spectrophotometric methods for quantifying pigmentation in human hair - influence of MC1R genotype and environment. Photochemistry and Photobiology, 84 (3), 719-726. doi: 10.1111/j.1751-1097.2007.00237.x

Effects of GABRA2 variation on physiological, psychomotor and subjective responses in the Alcohol Challenge Twin Study

Lind, Penelope A., MacGregor, Stuart, Montgomery, Grant W., Heath, Andrew C., Martin, Nicholas G. and Whitfield, John B. (2008). Effects of GABRA2 variation on physiological, psychomotor and subjective responses in the Alcohol Challenge Twin Study. Twin Research and Human Genetics, 11 (2), 174-182. doi: 10.1375/twin.11.2.174

Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs

Benyamin, Beben, Perola, Markus, Cornes, Belinda K., Madden, Pamela A. F., Palotie, Aarno, Nyholt, Dale R., Montgomery, Grant W., Peltonen, Leena, Martin, Nicholas G. and Visscher, Peter M. (2008). Within-family outliers: segregating alleles or environmental effects? A linkage analysis of height from 5815 sibling pairs. European Journal of Human Genetics, 16 (4), 516-524. doi: 10.1038/sj.ejhg.5201992

Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: The effects of OCA2 and HERC2

Shekar, Sri N., Duffy, David L., Frudakis, Tony, Sturm, Richard A., Zhao, Zhen Z., Montgomery, Grant W. and Martin, Nicholas G. (2008). Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: The effects of OCA2 and HERC2. Journal of Investigative Dermatology, 128 (12), 2807-2814. doi: 10.1038/jid.2008.147

A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colour

Sturm, Richard A., Duffy, David L., Zhao, Zhen Zhen, Leite, Fabio P.N., Stark, Mitchell S., Hayward, Nicholas K., Martin, Nicholas G. and Montgomery, Grant W. (2008). A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye colour. The American Journal of Human Genetics, 82 (2), 424-431. doi: 10.1016/j.ajhg.2007.11.005

Association of the gastric alcohol dehydrogenase gene Adh7 with variation in alcohol metabolism

Birley, Andrew J., James, Michael R., Dickson, Peter A., Montgomery, Grant W., Heath, Andrew C., Whitfield, John B. and Martin, Nicholas G. (2008). Association of the gastric alcohol dehydrogenase gene Adh7 with variation in alcohol metabolism. Human Molecular Genetics, 17 (2), 179-189. doi: 10.1093/hmg/ddm295

Association study of candidate variants from brain-derived neurotrophic factor and dystrobrevin-binding protein 1 with neuroticism, anxiety, and depression

Wray, Naomi R., James, Michael R., Handoko, Herlina Y., Dumenil, Troy, Lind, Penelope A., Montgomery, Grant W. and Martin, Nicholas G. (2008). Association study of candidate variants from brain-derived neurotrophic factor and dystrobrevin-binding protein 1 with neuroticism, anxiety, and depression. Psychiatric Genetics, 18 (5), 219-225. doi: 10.1097/YPG.0b013e3283050aee

Association study of candidate variants of COMT with neuroticism, anxiety and depression

Wray, Naomi, James, Michael R., Dumenil, Troy, Handoko, Herlina Y., Lind, Penelope A., Montgomery, Grant W. and Martin, Nicholas G. (2008). Association study of candidate variants of COMT with neuroticism, anxiety and depression. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 147B (7), 1314-1318. doi: 10.1002/ajmg.b.30744

Common variation in the CYP17A1 and IFIT1 genes on chromosome 10 does not contribute to the risk of endometriosis

Zhao, Zhen Zhen, Nyholt, Dale R., Le, Lien, Treloar, Susan A. and Montgomery, Grant W. (2008). Common variation in the CYP17A1 and IFIT1 genes on chromosome 10 does not contribute to the risk of endometriosis. The Open Reproductive Science Journal, 1, 35-40. doi: 10.2174/1874255600801010035

Dizygotic twinning

Hoekstra, Chantal, Zhao, Zhen Zhen, Lambalk, Cornelius B., Willemsen, Gonneke, Martin, Nicholas G., Boomsma, Dorret I. and Montgomery, Grant W. (2008). Dizygotic twinning. Human Reproduction Update, 14 (1), 37-47. doi: 10.1093/humupd/dmm036

Genome-wide linkage analysis of multiple measures of neuroticism of 2 large cohorts from Australia and the Netherlands

Wray, Naomi R., Middeldorp, Christel M., Birley, Andrew J., Gordon, Scott D., Sullivan, Patrick F., Visscher, Peter M., Nyholt, Dale R, Willemsen, Gonneke, de Geus, Eco J.C., Slagboom, P. Eline, Montgomery, Grant W., Martin, Nicholas G. and Boomsma, Dorret I. (2008). Genome-wide linkage analysis of multiple measures of neuroticism of 2 large cohorts from Australia and the Netherlands. Archives of General Psychiatry, 65 (6), 649-658. doi: 10.1001/archpsyc.65.6.649

Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays

Macgregor, Stuart, Zhao, Zhen Zhen, Henders, Anjali, Martin, Nicholas G., Montgomery, Grant W. and Visscher, Peter M. (2008). Highly cost-efficient genome-wide association studies using DNA pools and dense SNP arrays. Nucleic Acids Research, 36 (6) e35, 291-296. doi: 10.1093/nar/gkm1060

QTLs identified for P3 amplitude in a non-clinical sample: Importance of neurodevelopmental and neurotransmitter genes

Wright, Margaret J., Luciano, Michelle, Hansell, Narelle K., Montgomery, Grant W., Geffen, Gina M. and Martin, Nicholas (2008). QTLs identified for P3 amplitude in a non-clinical sample: Importance of neurodevelopmental and neurotransmitter genes. Biological Psychiatry, 63 (9), 864-873. doi: 10.1016/j.biopsych.2007.09.002

Single nucleotide polymorphisms in obesity-related genes and the risk of esophageal cancers

Doecke, J D, Zhao, Z Z, Stark, M S, Green, A C, Hayward, N K, Montgomery, G W, Webb, P M and Whiteman, D C (2008). Single nucleotide polymorphisms in obesity-related genes and the risk of esophageal cancers. Cancer Epidemiology, Biomarkers & Prevention, 17 (4), 1007-1012. doi: 10.1158/1055-9965.EPI-08-0023

Testing replication of a 5-SNP set for general cognitive ability in six population samples

Luciano, Michelle, Lind, Penelope A., Deary, Ian J., Payton, Antony, Posthuma, Danielle, Butcher, Lee M., Bochdanovits, Zoltan, Whalley, Lawrence J., Visscher, Peter M., Harris, Sarah E., Polderman, Tinca J. C., Davis, Oliver S. P., Wright, Margaret J., Starr, John M., de Geus, Eco J. C., Bates, Timothy C., Montgomery, Grant W., Boomsma, Dorret I., Martin, Nicholas G. and Plomin, Robert (2008). Testing replication of a 5-SNP set for general cognitive ability in six population samples. European Journal of Human Genetics, 16 (11), 1388-1395. doi: 10.1038/ejhg.2008.100

Analysis of the 5q31-33 locus shows an association between single nucleotide polymorphism variants in the IL-5 gene and symptomatic infection with the human blood fluke, Schistosoma japonicum

Ellis, MK, Zhao, ZZ, Chen, HG, Montgomery, GW, Li, YS and McManus, DP (2007). Analysis of the 5q31-33 locus shows an association between single nucleotide polymorphism variants in the IL-5 gene and symptomatic infection with the human blood fluke, Schistosoma japonicum. Journal of Immunology, 179 (12), 8366-8371. doi: 10.4049/jimmunol.179.12.8366

Genome partitioning of genetic variation for height from 11,214 sibling pairs

Visscher, Peter M., Macgregor, Stuart, Benyamin, Beben, Zhu, Gu, Gordon, Scott, Medland, Sarah, Hill, William G., Hottenga, Jouke-Jan, Willemsen, Gonneke, Boomsma, Dorret I., Liu, Yao-Zhong, Deng, Hong-Wen, Montgomery, Grant W. and Martin, Nicholas G. (2007). Genome partitioning of genetic variation for height from 11,214 sibling pairs. American Journal of Human Genetics, 81 (5), 1104-1110. doi: 10.1086/522934

A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability

Luciano, Michelle, Lind, Penelope A., Duffy, David L., Castles, Anne, Wright, Margaret J., Montgomery, Grant W., Martin, Nicholas G. and Bates, Timothy C. (2007). A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability. Biological Psychiatry, 62 (7), 811-817. doi: 10.1016/j.biopsych.2007.03.007

Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample

Zhao, Zhen Zhen, Nyholt, Dale R., Le, Lien, Thomas, Shane, Engwerda, Christian, Randall, Louise, Treloar, Susan A. and Montgomery, Grant W. (2007). Genetic variation in tumour necrosis factor and lymphotoxin is not associated with endometriosis in an Australian sample. Human Reproduction, 22 (9), 2389-2397. doi: 10.1093/humrep/dem182

Linkage analysis of a model quantitative trait in humans: Finger ridge count shows significant multivariate linkage to 5q14.1

Medland, Sarah E., Loesch, Danuta Z., Mdzewski, Bogdan, Zhu, Gu, Montgomery, Grant W. and Martin, Nicholas G. (2007). Linkage analysis of a model quantitative trait in humans: Finger ridge count shows significant multivariate linkage to 5q14.1. PLoS Genetics, 3 (9), 1736-1744. doi: 10.1371/journal.pgen.0030165

Evidence of genetic effects on blood lead concentration

Whitfield, John B., Dy, Veronica, McQuilty, Robert, Zhu, Gu, Montgomery, Grant W., Ferreira, Manuel A. R., Duffy, David L., Neale, Michael C., Heijmans, Bas T., Heath, Andrew C. and Martin, Nicholas G. (2007). Evidence of genetic effects on blood lead concentration. Environmental Health Perspectives, 115 (8), 1224-1230. doi: 10.1289/ehp.8847

Variants in EMX2 and PTEN do not contribute to risk of endometriosis

Treloar, S. A., Zhao, Z. Z., Le, L., Zondervan, K. T., Martin, N. G., Kennedy, S., Nyholt, D. R. and Montgomery, G. W. (2007). Variants in EMX2 and PTEN do not contribute to risk of endometriosis. Molecular Human Reproduction, 13 (8), 587-594. doi: 10.1093/molehr/gam023

Combined genome scans for body stature in 6,602 European twins: Evidence for common Caucasian loci

Perola, Markus, Sammalisto, Sampo, Hiekkalinna, Tero, Martin, Nick G., Visscher, Peter M., Montgomery, Grant W., Benyamin, Beben, Harris, Jennifer R., Boomsma, Dorret, Willemsen, Gonneke, Hottenga, Jouke-Jan, Christensen, Karre, Kyvik, Kirsten Ohm, Sorensen, Thorkild I., Pedersen, Nancy L., Magnusson, Patrik K., Spector, Tim D., Widen, Elisabeth, Silventoinen, Karri, Kaprio, Jaakko, Palotie, Aarno, Peltonen, Leena and GenomEUtwin Project (2007). Combined genome scans for body stature in 6,602 European twins: Evidence for common Caucasian loci. PLoS Genetics, 3 (6), 1019-1028. doi: 10.1371/journal.pgen.0030097

Combined genome scans for body stature in 6602 European twins: evidence for common Caucasian loci

Perola, Markus, Sammalisto, Sampo, Hiekkalinna, Tero, Martin, Nick, Visscher, Peter M., Montgomery, Grant W., Benyamin, Beben, Harris, Jennifer R, Boomsma, Dorret, Willemsen, Gonneke, Hottenga, Jouke-Jan, Christensen, Kaare, Ohm Kyvik, Kirsten, Sørensen, Thorkild I. A., Pedersen, Nancy L., Magnusson, Patrik K.E., Spector, Tim D, Widen, Elisabeth, Silventoinen, Karri, Kaprio, Jaakko, Palotie, Aarno and Peltonen, Leena (2007). Combined genome scans for body stature in 6602 European twins: evidence for common Caucasian loci. PLoS Genetics, 3 (6), 1019-1028. doi: 10.1371/journal.pgen.0030097

A case of true hermaphroditism reveals an unusual mechanism of twinning

Souter, Vivienne L., Parisi, Melissa A., Nyholt, Dale R., Kapur, Raj P., Henders, Anjali K., Opheim, Kent E., Gunther, Daniel F., Mitchell, Michael E., Glass, Ian A. and Montgomery, Grant W. (2007). A case of true hermaphroditism reveals an unusual mechanism of twinning. Human Genetics, 121 (2), 179-185. doi: 10.1007/s00439-006-0279-x

Effect of the BDNF V166M polymorphism on working memory in healthy adolescents

Hansell, N. K., James, M. R., Duffy, D. L., Birley, A. J., Luciano, M., Geffen, G. M., Wright, M. J., Montgomery, G. W. and Martin, N. G. (2007). Effect of the BDNF V166M polymorphism on working memory in healthy adolescents. Genes, Brain and Behavior, 6 (3), 260-268. doi: 10.1111/j.1601-183X.2006.00254.x

Anxiety and comorbid measures associated with PLXNA2

Wray, Naomi R., James, Michael R., Mah, Steven P., Nelson, Matthew, Andrews, Gavin, Sullivan, Patrick F., Montgomery, Grant W., Birley, Andrew J., Braun, Andreas and Martin, Nicholas G. (2007). Anxiety and comorbid measures associated with PLXNA2. Archives of General Psychiatry, 64 (3), 318-326. doi: 10.1001/archpsyc.64.3.318

The ongoing adaptive evolution of ASPM and microcephalin is not explained by increased intelligence

Mekel-Bobrov, Nitzan, Posthuma, Danielle, Gilbert, Sandra L., Lind, Penelope, Gosso, M. Florencia, Luciano, Michelle, Harris, Sarah E., Bates, Timothy C., Polderman, Tinca J., Whalley, Lawrence J., Fox, Helen, Starr, John M., Evans, Patrick D., Montgomery, Grant W., Fernandes, Croydon, Heutink, Peter, Martin, Nicholas G., Boomsma, Dorret I., Deary, Ian J., Wright, Margaret J., de Geus, Eco J. and Lahn, Bruce T. (2007). The ongoing adaptive evolution of ASPM and microcephalin is not explained by increased intelligence. Human Molecular Genetics, 16 (6), 600-608. doi: 10.1093/hmg/ddl487

"No thanks, it keeps me awake". The genetics of coffee-attributed sleep disturbance

Luciano, M., Ghu, Z., Kirk, K. M., Gordon, S. D., Heath, A. C., Montgomery, G. W. and Martin, N. G. (2007). "No thanks, it keeps me awake". The genetics of coffee-attributed sleep disturbance. Sleep, 30 (10), 1378-1386. doi: 10.1093/sleep/30.10.1378

A genome-wide scan for naevus count: Linkage to CDKN2A and to other chromosome regions

Zhu, Gu, Montgomery, Grant W., James, Michael R., Trent, Jeff M., Hayward, Nicholas K., Martin, Nicholas G. and Duffy, David L. (2007). A genome-wide scan for naevus count: Linkage to CDKN2A and to other chromosome regions. European Journal of Human Genetics, 15 (1), 94-102. doi: 10.1038/sj.ejhg.5201729

A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation

Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G. and Sturm, R. A. (2007). A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. American Journal of Human Genetics, 80 (2), 241-252. doi: 10.1086/510885

Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs

Saccone, S. F., Hinrichs, A. L., Saccone, N. L., Chase, G. A., Konvicka, K., Madden, P. A., Breslau, N., Johnson, E. O., Hatsukami, D., Pomerleau, O., Swan, G. E., Goate, A. M., Rutter, J., Bertelsen, S., Fox, L., Fugman, D., Martin, N. G., Montgomery, G. W., Wang, J. C., Ballinger, D. G., Rice, J. P. and Bierut, L. J. (2007). Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs. Human Molecular Genetics, 16 (1), 36-49. doi: 10.1093/hmg/ddl438

Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples

Saccone, Scott F., Pergadia, Michele L., Loukola, Anu, Broms, Ula, Montgomery, Grant W., Wang, Jen C., Agrawal, Arpana, Dick, Danielle M., Heath, Andrew C., Todorov, Alexandre A., Maunu, Heidi, Heikkila, Kauko, Morley, Katherine I., Rice, John P., Todd, Richard D., Kaprio, Jaakko, Peltonen, Leena, Martin, Nicholas G., Goate, Alison M. and Madden, Pamela A. (2007). Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samples. American Journal of Human Genetics, 80 (5), 856-866. doi: 10.1086/513703

Genomewide scans of red cell indices suggest linkage on chromosome 6q23

Iliadou, A., Evans, D. M., Zhu, G., Duffy, D. L., Frazer, I. H., Montgomery, G. W. and Martin, N. G. (2007). Genomewide scans of red cell indices suggest linkage on chromosome 6q23. Journal of Medical Genetics, 44 (1), 24-30. doi: 10.1136/jmg.2006.043521

Novel genes identified in a high-density genome wide association study for nicotine dependence

Bierut, L. J., Madden, P. A., Breslau, N., Johnson, E. O., Hatsukami, D., Pomerleau, O. F., Swan, G. E., Rutter, J., Bertelsen, S., Fox, L., Fugman, D., Goate, A. M., Hinrichs, A. L., Konvicka, K., Martin, N. G., Montgomery, G. W., Saccone, N. L., Saccone, S. F., Wang, J. C., Chase, G. A., Rice, J. P. and Ballinger, D. G. (2007). Novel genes identified in a high-density genome wide association study for nicotine dependence. Human Molecular Genetics, 16 (1), 24-35. doi: 10.1093/hmg/ddl441

Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13-15

Zondervan, K. T., Treloar, S. A., Lin, J., Weeks, D. E., Nyholt, D. R., Mangion, J., MacKay, I. J., Cardon, L. R., Martin, N. G., Kennedy, S. H. and Montgomery, G. W. (2007). Significant evidence of one or more susceptibility loci for endometriosis with near-Mendelian inheritance on chromosome 7p13-15. Human Reproduction, 22 (3), 717-728. doi: 10.1093/humrep/del446

High prevalence of sessile serrated adenomas with BRAF mutations: A prospective study of patients undergoing colonoscopy

Spring, Kevin, Zhao, Zhen Zhen, Karamatic, Rozemary, Walsh, Michael, Whitehall, Vicki, Pike, Tanya, Simms, Lisa, Young, Joanne, James, Michael, Montgomery, Grant, Appleyard, Mark, Hewett, David, Togashi, Kazutomo, Jass, Jeremy and Leggett, Barbara (2006). High prevalence of sessile serrated adenomas with BRAF mutations: A prospective study of patients undergoing colonoscopy. Gastroenterology, 131 (5), 1400-1407. doi: 10.1053/j.gastro.2006.08.038

Erratum: A sex-limited genome scan for body mass index in an unselected sample (Twin Research and Human Genetics (2005) 8, 6 (616-632))

Cornes, B. K., Medland, S. E., Ferreira, M. A.R., Morley, K. I., Duffy, D. L., Heijmans, B. T., Montgomery, G. W. and Martin, N. G. (2006). Erratum: A sex-limited genome scan for body mass index in an unselected sample (Twin Research and Human Genetics (2005) 8, 6 (616-632)). Twin Research and Human Genetics, 9 (3) doi: 10.1375/twin.9.3.ii

Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings

Visscher, Peter M., Medland, Sarah E., Ferreira, Manuel A. R., Morley, Katherine I., Zhu, Gu, Cornes, Belinda K., Montgomery, Grant W. and Martin, Nicholas G. (2006). Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. Plos Genetics, 2 (3), 316-325. doi: 10.1371/journal.pgen.0020041

Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings

Visscher, Peter M., Medland, Sarah E., Ferreira, Manuel A.R., Morley, Katherine I., Zhu, Gu, Cornes, Belinda K., Montgomery, Grant W. and Martin, Nicholas G. (2006). Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings. PLoS Genetics, 2 (3), 316-325. doi: 10.1371/journal.pgen.0020041

A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31

Shekar, Sri Niranjan, Duffy, David L., Montgomery, Grant W. and Martin, Nicholas G. (2006). A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31. Journal of Investigative Dermatology, 126 (2), 277-282. doi: 10.1038/sj.jid.5700067

A linkage study of academic skills defined by the Queensland Core Skills Test

Wainwright, Mark A., Wright, Margaret J., Luciano, Michelle, Montgomery, Grant W., Geffen, Gina M. and Martin, Nicholas G. (2006). A linkage study of academic skills defined by the Queensland Core Skills Test. Behavior Genetics, 36 (1), 56-64. doi: 10.1007/s10519-005-9013-z

A possible smoking susceptibility locus on chromosome 11p12: Evidence from sex-limitation linkage analyses in a sample of Australian twin families

Morley, Katherine I., Medland, Sarah E., Ferreira, Manuel A. R., Lynskey, Michael T., Montgomery, Grant W., Heath, Andrew C., Madden, Pamela A. F. and Martin, Nicholas G. (2006). A possible smoking susceptibility locus on chromosome 11p12: Evidence from sex-limitation linkage analyses in a sample of Australian twin families. Behavior Genetics, 36 (1), 87-99. doi: 10.1007/s10519-005-9004-0

Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates

Macgregor, S., Visscher, P. M. and Montgomery, G. (2006). Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates. Nucleic Acids Research, 34 (7) e55. doi: 10.1093/nar/gkl136

Butyrylcholinesterase: Association with the metabolic syndrome and identification of 2 gene loci affecting activity

Valle, Anne, OConnor, Daniel T., Taylor, Palmer, Zhu, Gu, Montgomery, Grant W., Slagboom, P. Eline, Martin, Nicholas G. and Whitfield, John B. (2006). Butyrylcholinesterase: Association with the metabolic syndrome and identification of 2 gene loci affecting activity. Clinical Chemistry, 52 (6), 1014-1020. doi: 10.1373/clinchem.2005.065052

Effects of Variation at the ALDH2 Locus on Alcohol Metabolism, Sensitivity, Consumption, and Dependence in Europeans

Dickson, Peter A., James, Michael R., Heath, Andrew C., Montgomery, Grant W., Martin, Nicholas G., Whitfield, John B. and Birley, Andrew J. (2006). Effects of Variation at the ALDH2 Locus on Alcohol Metabolism, Sensitivity, Consumption, and Dependence in Europeans. Alcoholism - Clinical And Experimental Research, 30 (7), 1093-1100. doi: 10.1111/j.1530-0277.2006.00128.x

Empirical Evaluation of the Genetic Similarity of Samples From Twin Registries in Australia and the Netherlands Using 359 STRP Markers

Sullivan, Patrick F., Montgomery, Grant W., Hottenga, Jouke J., Wray, Naomi R., Boomsma, Dorret I. and Martin, Nicholas G. (2006). Empirical Evaluation of the Genetic Similarity of Samples From Twin Registries in Australia and the Netherlands Using 359 STRP Markers. Twin Research And Human Genetics, 9 (4), 600-602. doi: 10.1375/183242706778025026

Genome-wide linkage scan for loci influencing plasma triglycerides

Middelberg, Rita P., Martin, Nicholas G., Montgomery, Grant W. and Whitfield, John B. (2006). Genome-wide linkage scan for loci influencing plasma triglycerides. Clinica Chimica Acta, 374 (1-2), 87-92. doi: 10.1016/j.cca.2006.05.033

Genome-wide scan of IQ finds significant linkage to a quantitative trait locus on 2q

Luciano, M., Wright, M. J., Duffy, D. L., Wainwright, M. A., Zhu, G., Evans, D. M., Geffen, G. M., Montgomery, G. W. and Martin, N. G. (2006). Genome-wide scan of IQ finds significant linkage to a quantitative trait locus on 2q. Behavior Genetics, 36 (1), 45-55. doi: 10.1007/s10519-005-9003-1

HLA and Genomewide Allele Sharing in Dizygotic Twins

Montgomery, Grant W., Zhu, Gu, Hottenga, Jouke J., Duffy, David L., Heath, Andrew C., Boomsma, Dorret I., Martin, Nicholas G. and Visscher, Peter M. (2006). HLA and Genomewide Allele Sharing in Dizygotic Twins. American Journal of Human Genetics, 79 (6), 1052-1058. doi: 10.1086/510136

KRAS variation and risk of endometriosis

Zhao, Z. Z., Nyholt, D. R., Le, L., Martin, N. G., James, M. R., Treloar, S. A. and Montgomery, G. W. (2006). KRAS variation and risk of endometriosis. Molecular Human Reproduction, 12 (11), 671-676. doi: 10.1093/molehr/gal078

Linkage analyses of event-related potential slow wave phenotypes recorded in a working memory task

Hansell, N. K., Medland, S. E., Ferreira, A. R., Geffen, G. M., Zhu, G., Montgomery, G. W., Duffy, D. L., Wright, M.J. and Martin, N. G. (2006). Linkage analyses of event-related potential slow wave phenotypes recorded in a working memory task. Behavior Genetics, 36 (1), 29-44. doi: 10.1007/s10519-005-9002-2

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins

Palmer, J. S., Zhao, Z. Z., Hoekstra, C., Hayward, N. K., Webb, P. M., Whiteman, D. C., Martin, N. G., Boomsma, D. I., Duffy, D. L. and Montgomery, G. W. (2006). Novel variants in growth differentiation factor 9 in mothers of dizygotic twins. Journal of Clinical Endocrinology And Metabolism, 91 (11), 4713-4716. doi: 10.1210/jc.2006-0970

Rapid screening of 4000 individuals for germ-line variations in the BRAF gene

James, Michael R., Dumeni, Troy, Stark, Mitchell S., Duffy, David L., Montgomery, Grant W., Martin, Nicholas G. and Hayward, Nicholas K. (2006). Rapid screening of 4000 individuals for germ-line variations in the BRAF gene. Clinical Chemistry, 52 (9), 1675-1678. doi: 10.1373/clinchem.2006.070169

BRAF Polymorphisms and Risk of Melanocytic Neoplasia

James, Michael R., Roth, Richard B., Shi, Michael M., Kammerer, Stefan, Nelson, Matthew R., Stark, Mitchell S., Dumenil, Troy, Montgomery, Grant W., Hayward, Nicholas K., Martin, Nicholas G., Braun, Andreas and Duffy, David L. (2005). BRAF Polymorphisms and Risk of Melanocytic Neoplasia. Journal of Investigative Dermatology, 125 (6), 1252-1258. doi: 10.1111/j.0022-202X.2005.23937.x

Sex-limited genome-wide linkage scan for body mass index in an unselected sample of 933 Australian twin families

Cornes, BK, Medland, SE, Ferreira, MAR, Morley, KI, Duffy, DL, Heijmans, BT, Montgomery, GW and Martin, NG (2005). Sex-limited genome-wide linkage scan for body mass index in an unselected sample of 933 Australian twin families. Twin Research and Human Genetics, 8 (6), 616-632. doi: 10.1375/183242705774860240

Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females

Medland, Sarah E., Duffy, David L., Spurdle, Amanda B., Wright, Margaret J., Geffen, Gina M., Montgomery, Grant W. and Martin, Nicholas G. (2005). Opposite effects of androgen receptor CAG repeat length on increased risk of left-handedness in males and females. Behavior Genetics, 35 (6), 735-744. doi: 10.1007/s10519-005-6187-3

Genomewide significant linkage to migrainous Hheadache on chromosome 5q21

Nyholt, Dale R., Morley, Katherine I., Ferreira, Manual A. R., Medland, Sarah E., Boomsma, Dorret I., Heath, Andrew C., Merikangas, Kathleen R., Montgomery, Grant W. and Martin, Nicholas G. (2005). Genomewide significant linkage to migrainous Hheadache on chromosome 5q21. American Journal Of Human Genetics, 77 (3), 500-512. doi: 10.1086/444510

A comparison of DNA pools constructed following whole genome amplification for two-stage SNP genotyping designs

Zhao, Zhen Zhen, Nyholt, Dale R., James, Michael R., Mayne, Renee, Treloar, Susan A. and Montgomery, Grant W. (2005). A comparison of DNA pools constructed following whole genome amplification for two-stage SNP genotyping designs. Twin Research and Human Genetics, 8 (4), 353-361. doi: 10.1375/1832427054936718

A genomewide scan for intelligence identifies quantitative trait loci on 2q and 6p

Posthuma, Danielle, Luciano, Michelle, de Geus, Eco J. C., Wright, Margie J., Slagboom, P. Eline, Montgomery, Grant W., Boomsma, Dorret I. and Martin, Nicholas G. (2005). A genomewide scan for intelligence identifies quantitative trait loci on 2q and 6p. American Journal of Human Genetics, 77 (2), 318-326. doi: 10.1086/432647

Eysenck's Psychoticism and the X-linked androgen receptor gene CAG polymorphism in additional Australian samples

Loehlin, JC, Medland, SE, Montgomery, GW and Martin, NG (2005). Eysenck's Psychoticism and the X-linked androgen receptor gene CAG polymorphism in additional Australian samples. Personality and Individual Differences, 39 (3), 661-667. doi: 10.1016/j.paid.2005.02.016

Association between polymorphisms in the progesterone receptor gene and endometriosis

Treloar, Susan A., Zhao, Zhen Zhen, Armitage, Trudi, Duffy, David L., Wicks, Jacqueline, O'Connor, Daniel T., Martin, Nicholas G. and Montgomery, Grant W. (2005). Association between polymorphisms in the progesterone receptor gene and endometriosis. Molecular Human Reproduction, 11 (9), 641-647. doi: 10.1093/molehr/gah221

Estimation of the rate of SNP genotyping errors from DNA extracted from different tissues

Montgomery, GW, Campbell, MJ, Dickson, P, Herbert, S, Siemering, K, Ewen-White, KR, Visscher, PM and Martin, NG (2005). Estimation of the rate of SNP genotyping errors from DNA extracted from different tissues. Twin Research and Human Genetics, 8 (4), 346-352. doi: 10.1375/1832427054936673

Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan

Dickson, PA, Montgomery, GW, Henders, A, Campbell, MJ, Martin, NG and James, MR (2005). Evaluation of multiple displacement amplification in a 5 cM STR genome-wide scan. Nucleic Acids Research, 33 (13), 1-4. doi: 10.1093/nar/gni126

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26

Treloar, Susan A., Wicks, Jacqueline, Nyholt, Dale R., Montgomery, Grant W., Bahlo, Melanie, Smith, Vicki, Dawson, Gary, Mackay, Ian J., Weeks, Daniel E., Bennett, Simon T., Carey, Alisoun, Ewen-White, Kelly R., Duffy, David L., O'Connor, Daniel T., Barlow, David H., Martin, Nicholas G. and Kennedy, Stephen H. (2005). Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. American Journal of Human Genetics, 77 (3), 365-376. doi: 10.1086/432960

Genetics of dizygotic twinning: a feasibility study for a biobank

Hoekstra, Chantal, Meijer, Piet, Kluft, Cornelis, Heutink, Peter, Smit, Guus, de Geus, Eco, Smit, Jan H., van Bruggen, Angelique, Montgomery, Grant W. and Boomsma, Dorret I. (2004). Genetics of dizygotic twinning: a feasibility study for a biobank. Twin Research and Human Genetics, 7 (6), 556-563. doi: 10.1375/1369052042663751

Major quantitative trait locus for eosinophil count is located on chromosome 2q

Evans, DM, Zhu, G, Duffy, DL, Montgomery, GW, Frazer, IH and Martin, NG (2004). Major quantitative trait locus for eosinophil count is located on chromosome 2q. Journal of Allergy And Clinical Immunology, 114 (4), 826-830. doi: 10.1016/j.jaci.2004.05.060

Effects of scrotal heating on sperm surface protein PH-20 expression in sheep

Fleming, Jean S., Yu, Fu, McDonald, Robin M., Meyers, Stuart A., Montgomery, Grant W., Smith, John F. and Nicholson, Helen D. (2004). Effects of scrotal heating on sperm surface protein PH-20 expression in sheep. Molecular Reproduction and Development, 68 (1), 103-114. doi: 10.1002/mrd.20049

A deletion mutation in GDF9 in sisters with spontaneous DZ twins

Montgomery, G. W., Zhao, Z. Z., Marsh, A. J., Mayne, R., Treloar, S. A., James, M., Martin, N. G., Boomsma, D. I. and Duffy, D. L. (2004). A deletion mutation in GDF9 in sisters with spontaneous DZ twins. Twin Research, 7 (6), 548-555. doi: 10.1375/1369052042663823

A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q

Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M. and Martin, N. G. (2004). A genome scan for eye color in 502 twin families: Most variation is due to a QTL on chromosome 15q. Twin Research, 7 (2), 197-210. doi: 10.1375/136905204323016186

A major quantitative trait locus for CD4-CD8 ratio is located on chromosome 11

Evans, D. M., Zhu, G., Duffy, D. L., Frazer, I. H., Montgomery, G. W. and Martin, N. G. (2004). A major quantitative trait locus for CD4-CD8 ratio is located on chromosome 11. Genes and Immunity, 5 (7), 548-552. doi: 10.1038/sj.gene.6364126

Epidermal Growth Factor Gene (EGF) Polymorphism and Risk of Melanocytic Neoplasiay

James, Michael R., Hayward, Nicholas K., Dumenil, Troy, Montgomery, Grant W., Martin, Nicholas G. and Duffy, David L. (2004). Epidermal Growth Factor Gene (EGF) Polymorphism and Risk of Melanocytic Neoplasiay. Journal of Investigative Dermatology, 123 (4), 760-762. doi: 10.1111/j.0022-202X.2004.23305.x

Gender diagnosticity and androgen receptor gene CAG repeat sequence

Loehlin, John C., Jonsson, Erik G., Gustavsson, J. Petter, Schalling, Martin, Medland, Sarah E., Montgomery, Grant W. and Martin, Nicholas G. (2004). Gender diagnosticity and androgen receptor gene CAG repeat sequence. Twin Research, 7 (5), 456-461. doi: 10.1375/1369052042335359

Interactive effects of MC1R and OCA2 on melanoma risk phenotypes

Duffy, D. L., Box, N. F., Chen, W., Palmer, J. S., Montgomery, G. W., James, M. R., Hayward, N. K., Martin, N. G. and Sturm, R. A. (2004). Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Human Molecular Genetics, 13 (4), 447-461. doi: 10.1093/hmg/ddh043

Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q

Evans, D. M., Zhu, G., Duffy, D. L., Montgomery, G. W., Frazer, IH and Martin, NG (2004). Multivariate QTL linkage analysis suggests a QTL for platelet count on chromosome 19q. European Journal of Human Genetics, 12 (10), 835-842. doi: 10.1038/sj.ejhg.5201248

A report of dizygous monochorionic twins

Souter, Vivienne L., Kapur, Raj P., Nyholt, Dale R., Skogerboe, Kristen, Myerson, David, Ton, Carl C., Opheim, Kent E., Easterling, Thomas R., Shields, Laurence E., Montgomery, Grant W. and Glass, Ian A. (2003). A report of dizygous monochorionic twins. New England Journal of Medicine, 349 (2), 154-158. doi: 10.1056/NEJMoa030050

Dizygotic twinning is not associated with methylenetetrahydrofolate reductase haplotypes

Montgomery, Grant W., Zhao, Zhen Zehn, Morley, Katherine I., Marsh, Anna J., Boomsma, Dorret I., Martin, Nicholas G. and Duffy, David L. (2003). Dizygotic twinning is not associated with methylenetetrahydrofolate reductase haplotypes. Human Reproduction, 18 (11), 2460-2464. doi: 10.1093/humrep/deg441

Linkage and Association Analysis of Radiation Damage Repair Genes XRCC3 and XRCC5 with Nevus Density in Adolescent Twins

Zhu, Gu, Duffy, David L., Turner, David R., Ewen, Kelly R., Montgomery, Grant W. and Martin, Nicholas G. (2003). Linkage and Association Analysis of Radiation Damage Repair Genes XRCC3 and XRCC5 with Nevus Density in Adolescent Twins. Twin Research, 6 (4), 315-321. doi: 10.1375/136905203322296683

Serum inhibin A and B concentrations during the menstrual cycle in mothers of spontaneous dizygotic twins

Gilfillan, Christopher P., Montgomery, Grant W., Zhu, Gu, Martin, Nicholas G., Groome, N. P. and Robertson, David M. (2003). Serum inhibin A and B concentrations during the menstrual cycle in mothers of spontaneous dizygotic twins. Twin Research, 6 (1), 27-33. doi: 10.1375/136905203762687870

Zygosity Diagnosis in the Absence of Genotypic Data: An Approach Using Latent Class Analysis

Heath, Andrew C., Nyholt, Dale R., Neuman, Rosalind, Madden, Pamela A. F., Bucholz, Kathleen K., Todd, Richard D., Nelson, Elliot C., Montgomery, Grant W. and Martin, Nicholas G. (2003). Zygosity Diagnosis in the Absence of Genotypic Data: An Approach Using Latent Class Analysis. Twin Research and Human Genetics, 6 (1), 22-26. doi: 10.1375/136905203762687861

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Haiman, Christopher A., Chen, Gary K., Vachon, Celine M., Canzian, Federico, Dunning, Alison, Millikan, Robert C., Wang, Xianshu, Ademuyiwa, Foluso, Ahmed, Shahana, Ambrosone, Christine B., Baglietto, Laura, Balleine, Rosemary, Bandera, Elisa V., Beckmann, Matthias W., Berg, Christine D., Bernstein, Leslie, Blomqvist, Carl, Blot, William J., Brauch, Hiltrud, Buring, Julie E., Carey, Lisa A., Carpenter, Jane E., Chang-Claude, Jenny, Chanock, Stephen J., Chasman, Daniel I., Clarke, Christine L., Cox, Angela, Cross, Simon S., Deming, Sandra L. ... Couch, Fergus J. (2002). Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genetics, 32 (2), 285-289. doi: 10.1038/ng985

Genetics of Serum Dehydroepiandrosterone Sulfate and Its Relationship to Insulin in a Population-Based Cohort of Twin Subjects

Nestler, John E., Whitfield, John B., Williams, Terre Y., Zhu, Gu, Condon, Juliann, Kirk, Katherine M., Heath, Andrew C., Montgomery, Grant W. and Martin, Nicholas G. (2002). Genetics of Serum Dehydroepiandrosterone Sulfate and Its Relationship to Insulin in a Population-Based Cohort of Twin Subjects. Journal of Clinical Endocrinology And Metabolism, 87 (2), 682-686. doi: 10.1210/jc.87.2.682

The genetics of cognitive processes: Candidate genes in humans and animals

Morley, KI and Montgomery, GW (2001). The genetics of cognitive processes: Candidate genes in humans and animals. Behavior Genetics, 31 (6), 511-531. doi: 10.1023/A:1013337209957

Genes controlling ovulation rate in sheep

Montgomery, GW, Galloway, SM, Davis, GH and McNatty, KP (2001). Genes controlling ovulation rate in sheep. Reproduction, 121 (6), 843-852. doi: 10.1530/rep.0.1210843

Human twinning is not linked to the region of chromosome 4 syntenic with the sheep twinning gene FecB

Duffy, David L., Montgomery, Grant W., Hall, Jeff, Mayne, Carol, Healey, Sue C., Brown, Joy, Boomsma, Dorret I. and Martin, Nicholas G. (2001). Human twinning is not linked to the region of chromosome 4 syntenic with the sheep twinning gene FecB. American Journal of Medical Genetics Part A, 100 (3), 182-186. doi: 10.1002/ajmg.1255

Highly prolific Booroola sheep have a mutation in the intracellular kinase domain of bone morphogenetic protein IB receptor (ALK-6) that is expressed in both oocytes and granulosa cells

Wilson, T, Wu, XY, Juengel, JL, Ross, IK, Lumsden, JM, Lord, EA, Dodds, KG, Walling, GA, McEwan, JC, O'Connell, AR, McNatty, KP and Montgomery, GW (2001). Highly prolific Booroola sheep have a mutation in the intracellular kinase domain of bone morphogenetic protein IB receptor (ALK-6) that is expressed in both oocytes and granulosa cells. Biology of Reproduction, 64 (4), 1225-1235. doi: 10.1095/biolreprod64.4.1225

Mutations in the follicle-stimulating hormone receptor and familial dizygotic twinning

Montgomery, Grant W., Duffy, David L., Hall, Jeff, Kudo, Masataka, Martin, Nicholas G. and Hsueh, Aaron J. (2001). Mutations in the follicle-stimulating hormone receptor and familial dizygotic twinning. Lancet, 357 (9258), 773-774. doi: 10.1016/S0140-6736(00)04164-7

IBD sharing around the PPARG locus is not increased in dizygotic twins or their mothers

Duffy, David, Montgomery, Grant, Treloar, Susan, Birley, Andrew, Kirk, Katherine, Boomsma, Dorret, Beem, Leo, de Geus, Eco, Slagboom, Eline, Knighton, Joharna, Reed, Peter and Martin, Nicholas (2001). IBD sharing around the PPARG locus is not increased in dizygotic twins or their mothers. Nature Genetics, 28 (4), 315-315. doi: 10.1038/91074

Dizygotic Twinning Is Not Linked to Variation at the {alpha}-Inhibin Locus on Human Chromosome 2

Montgomery, Grant W., Duffy, David L., Hall, Jeff, Haddon, Barbara R., Kudo, Masataka, McGee, Elizabeth A., Palmer, James S., Hsueh, Aaron J., Boomsma, Dorrett I. and Martin, Nicholas G. (2000). Dizygotic Twinning Is Not Linked to Variation at the {alpha}-Inhibin Locus on Human Chromosome 2. Journal of Clinical Endocrinology & Metabolism, 85 (9), 3391-3395. doi: 10.1210/jc.85.9.3391

Follistatin (FST), growth hormone receptor (GHR) and prolactin receptor (PRLR) genes map to the same region of sheep chromosome 16

Jenkins, ZA, Henry, HM, Sise, JA and Montgomery, GW (2000). Follistatin (FST), growth hormone receptor (GHR) and prolactin receptor (PRLR) genes map to the same region of sheep chromosome 16. Animal Genetics, 31 (4), 280-280. doi: 10.1046/j.1365-2052.2000.00482.x

Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner

Galloway, SM, McNatty, KP, Cambridge, LM, Laitinen, MPE, Juengel, JL, Jokiranta, TS, McLaren, RJ, Luiro, K, Dodds, KG, Montgomery, GW, Beattie, AE, Davis, GH and Ritvos, O (2000). Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nature Genetics, 25 (3), 279-283. doi: 10.1038/77033

Genome mapping in ruminants and map locations for genes influencing reproduction

Montgomery, GW (2000). Genome mapping in ruminants and map locations for genes influencing reproduction. Reviews of Reproduction, 5 (1), 25-37. doi: 10.1530/ror.0.0050025

Determination of genetic relationships among five indigenous Chinese goat breeds with six microsatellite markers

Yang, L, Zhao, SH, Li, K, Peng, ZZ and Montgomery, GW (1999). Determination of genetic relationships among five indigenous Chinese goat breeds with six microsatellite markers. Animal Genetics, 30 (6), 452-455. doi: 10.1046/j.1365-2052.1999.00548.x

Genomic imprinting of the insulin-like growth factor 2 gene in sheep

McLaren, RJ and Montgomery, GW (1999). Genomic imprinting of the insulin-like growth factor 2 gene in sheep. Mammalian Genome, 10 (6), 588-591. doi: 10.1007/s003359901050

Linkage mapping of genes encoding bone morphogenetic proteins 1, 4 and 5 in sheep

Jenkins, ZA and Montgomery, GW (1999). Linkage mapping of genes encoding bone morphogenetic proteins 1, 4 and 5 in sheep. Animal Genetics, 30 (2), 163-164. doi: 10.1046/j.1365-2052.1999.00382-4.x

Mapping of dentin-specific acidic phosphoprotein and integrin-binding sialoprotein in sheep defines an inversion breakpoint with respect to human chromosome 4Q

Lumsden, JM, Lord, EA, Hirst, KL, Dixon, MJ and Montgomery, GW (1999). Mapping of dentin-specific acidic phosphoprotein and integrin-binding sialoprotein in sheep defines an inversion breakpoint with respect to human chromosome 4Q. Genetics and Molecular Biology, 22 (1), 29-31. doi: 10.1590/S1415-47571999000100007

Genetic mapping of the ovine homologue of the mouse Hacl1 gene to sheep chromosome 1

Jenkins, ZA and Montgomery, GW (1999). Genetic mapping of the ovine homologue of the mouse Hacl1 gene to sheep chromosome 1. Animal Genetics, 30 (1), 74-74. doi: 10.1046/j.1365-2052.1999.00323-12.x

The application of AFLP fingerprinting to construct a YAC contig containing ADH2 and MTP on sheep chromosome 6

Lumsden, JM, Lord, EA, Cato, SA, Richardson, TE, van Stijn, TC, Broom, MF, Patel, K and Montgomery, GW (1999). The application of AFLP fingerprinting to construct a YAC contig containing ADH2 and MTP on sheep chromosome 6. Cytogenetics and Cell Genetics, 84 (3-4), 225-229. doi: 10.1159/000015264

A genome screen for QTL for wool traits in a Merino x Romney backcross flock (Reprinted)

Henry, HM, Dodds, KG, Wuliji, T, Jenkins, ZA, Beattie, AE and Montgomery, GW (1998). A genome screen for QTL for wool traits in a Merino x Romney backcross flock (Reprinted). Wool Technology and Sheep Breeding, 46 (3), 213-217.

Identification of Booroola carriers using microsatellite markers (Reprinted)

Lord, EA, Davis, GH, Dodds, KG, Henry, HM, Lumsden, JM and Montgomery, GW (1998). Identification of Booroola carriers using microsatellite markers (Reprinted). Wool Technology and Sheep Breeding, 46 (3), 245-249.

The sheep gene map

Broad, Thomas E., Hill, Diana F., Maddox, Jullian F., Montgomery, Grant W. and Nicholas, Frank W. (1998). The sheep gene map. ILAR Journal, 39 (2-3), 160-170. doi: 10.1093/ilar.39.2-3.160

Linkage mapping of wool keratin and keratin-associated protein genes in sheep

McLaren, RJ, Rogers, GR, Davies, KP, Maddox, JF and Montgomery, GW (1997). Linkage mapping of wool keratin and keratin-associated protein genes in sheep. Mammalian Genome, 8 (12), 938-940. doi: 10.1007/s003359900616

The physiological effects of natural variation in growth hormone gene copy number in ram lambs

Gootwine, E, Suttie, JM, McEwan, JC, Veenvliet, BA, Littlejohn, RP, Fennessy, PF and Montgomery, GW (1997). The physiological effects of natural variation in growth hormone gene copy number in ram lambs. Domestic Animal Endocrinology, 14 (6), 381-390. doi: 10.1016/S0739-7240(98)00043-5

Comparative linkage mapping of genes on sheep chromosome 3 provides evidence of chromosomal rearrangements in the evolution of the Bovidae

Jenkins, ZA, Henry, HM, Galloway, SM, Dodds, KG and Montgomery, GW (1997). Comparative linkage mapping of genes on sheep chromosome 3 provides evidence of chromosomal rearrangements in the evolution of the Bovidae. Cytogenetics and Cell Genetics, 78 (3-4), 272-274. doi: 10.1159/000134670

Recent developments in gene mapping and progress towards marker-assisted selection in sheep

Montgomery, G. W. and Kinghorn, B. P. (1997). Recent developments in gene mapping and progress towards marker-assisted selection in sheep. Australian Journal of Agriculture Research, 48 (6), 729-741. doi: 10.1071/A96153

The effects of a duplication in the ovine growth hormone (GH) gene on gh expression in the pituitaries of ram lambs from lean and fat-selected sheep lines

Fleming, JS, Suttie, JM, Montgomery, GW, Gunn, J, Stuart, SK, Littlejohn, RP and Gootwine, E (1997). The effects of a duplication in the ovine growth hormone (GH) gene on gh expression in the pituitaries of ram lambs from lean and fat-selected sheep lines. Domestic Animal Endocrinology, 14 (1), 17-24. doi: 10.1016/S0739-7240(96)00098-7

Genetic mapping of the laminin gamma 2 gene on sheep Chromosome 12

Jenkins, ZA and Montgomery, GW (1996). Genetic mapping of the laminin gamma 2 gene on sheep Chromosome 12. Mammalian Genome, 7 (11), 868-869. doi: 10.1007/s003359900257

Comparative genome organization of vertebrates

Andersson, L., Archibald, A., Ashburner, M., Audun, S., Barendse, W., Bitgood, J., Bottema, C., Broad, T., Brown, S., Burt, D., Charlier, C., Copeland, N., Davis, S., Davisson, M., Edwards, J., Eggen, A., Elgar, G., Eppig, J. T., Franklin, I., Grewe, P., Gill, T., Graves, J. A. M., Hawken, R., Hetzel, J., Hilyard, A., Jacob, H., Jaswinska, L., Jenkins, N., Kunz, H. ... Womack, J. (1996). Comparative genome organization of vertebrates. Mammalian Genome, 7 (10), 717-734. doi: 10.1007/s003359900222

Polymorphism at the ovine major histocompatibility complex class II loci

Escayg, AP, Hickford, JGH, Montgomery, GW, Dodds, KG and Bullock, DW (1996). Polymorphism at the ovine major histocompatibility complex class II loci. Animal Genetics, 27 (5), 305-312.

Genetic mapping of the endothelin receptor type A gene on sheep Chromosome 17

Lumsden, JM and Montgomery, GW (1996). Genetic mapping of the endothelin receptor type A gene on sheep Chromosome 17. Mammalian Genome, 7 (7), 560-561. doi: 10.1007/s003359900169

Characterization and linkage mapping often sheep microsatellite markers derived from a sheep x hamster cell hybrid

Lumsden, JM, Lord, EA and Montgomery, GW (1996). Characterization and linkage mapping often sheep microsatellite markers derived from a sheep x hamster cell hybrid. Animal Genetics, 27 (3), 203-206.

The linkage map of sheep chromosome 6 compared with orthologous regions in other species

Lord, EA, Lumsden, JM, Dodds, KG, Henry, HM, Crawford, AM, Ansari, HA, Pearce, PD, Maher, DW, Stone, RT, Kappes, SM, Beattie, CW and Montgomery, GW (1996). The linkage map of sheep chromosome 6 compared with orthologous regions in other species. Mammalian Genome, 7 (5), 373-376. doi: 10.1007/s003359900107

Genetic and physical mapping of the ovine cystic fibrosis gene

Tebbutt, SJ, Broom, MF, vanStijn, TC, Montgomery, GW and Hill, DF (1996). Genetic and physical mapping of the ovine cystic fibrosis gene. Cytogenetics and Cell Genetics, 74 (4), 245-247. doi: 10.1159/000134425

Mapping the Horns (Ho) locus in sheep: A further locus controlling horn development in domestic animals

Montgomery, G. W., Henry, H. M., Dodds, K. G., Beattie, A. E., Wuliji, T. and Crawford, A. M. (1996). Mapping the Horns (Ho) locus in sheep: A further locus controlling horn development in domestic animals. Journal of Heredity, 87 (5), 358-363. doi: 10.1093/oxfordjournals.jhered.a023014

The sheep gene map database (SheepBase) is now available on the World Wide Web

Sise, JA, Hillyard, AL and Montgomery, GW (1996). The sheep gene map database (SheepBase) is now available on the World Wide Web. Mammalian Genome, 7 (1), 1-1. doi: 10.1007/s003359900001

THE FOLLICLE-STIMULATING-HORMONE RECEPTOR AND LUTEINIZING-HORMONE RECEPTOR GENES ARE CLOSELY LINKED IN SHEEP AND DEER

MONTGOMERY, GW, TATE, ML, HENRY, HM, PENTY, JM and ROHAN, RM (1995). THE FOLLICLE-STIMULATING-HORMONE RECEPTOR AND LUTEINIZING-HORMONE RECEPTOR GENES ARE CLOSELY LINKED IN SHEEP AND DEER. Journal of Molecular Endocrinology, 15 (3), 259-265. doi: 10.1677/jme.0.0150259

SHEEP LINKAGE MAPPING - RFLP MARKERS FOR COMPARATIVE MAPPING STUDIES

MONTGOMERY, GW, PENTY, JM, HENRY, HM, SISE, JA, LORD, EA, DODDS, KG and HILL, DF (1995). SHEEP LINKAGE MAPPING - RFLP MARKERS FOR COMPARATIVE MAPPING STUDIES. Animal Genetics, 26 (4), 249-259. doi: 10.1111/j.1365-2052.1995.tb03252.x

AN AUTOSOMAL GENETIC-LINKAGE MAP OF THE SHEEP GENOME

CRAWFORD, AM, DODDS, KG, EDE, AJ, PIERSON, CA, MONTGOMERY, GW, GARMONSWAY, HG, BEATTIE, AE, DAVIES, K, MADDOX, JF, KAPPES, SW, STONE, RT, NGUYEN, TC, PENTY, JM, LORD, EA, BROOM, JE, BUITKAMP, J, SCHWAIGER, W, EPPLEN, JT, MATTHEW, P, MATTHEWS, ME, HULME, DJ, BEH, KJ, MCGRAW, RA and BEATTIE, CW (1995). AN AUTOSOMAL GENETIC-LINKAGE MAP OF THE SHEEP GENOME. Genetics, 140 (2), 703-724.

THE GONADOTROPIN-RELEASING-HORMONE RECEPTOR MAPS TO SHEEP CHROMOSOME-6 OUTSIDE OF THE REGION OF THE FECB LOCUS

MONTGOMERY, GW, PENTY, JM, LORD, EA, BROOKS, J and MCNEILLY, AS (1995). THE GONADOTROPIN-RELEASING-HORMONE RECEPTOR MAPS TO SHEEP CHROMOSOME-6 OUTSIDE OF THE REGION OF THE FECB LOCUS. Mammalian Genome, 6 (6), 436-438. doi: 10.1007/BF00355648

LINKAGE OF LHB AND MAG TO GPI ON SHEEP CHROMOSOME-14

PENTY, JM, LORD, EA, DODDS, KG, GALLOWAY, SM and MONTGOMERY, GW (1995). LINKAGE OF LHB AND MAG TO GPI ON SHEEP CHROMOSOME-14. Mammalian Genome, 6 (4), 299-300. doi: 10.1007/BF00352421

An autosomal genetic linkage map of the sheep genome

Crawford, A. M., Dodds, K. G., Ede, A. J., Pierson, C. A., Montgomery, G. W., Garmonsway, H. G., Beattie, A. E., Davies, K., Maddox, J. F., Kappes, S. W., Stone, R. T., Nguyen, T. C., Penty, J. M., Lord, E. A., Broom, J. E., Buitkamp, J., Schwaiger, W., Epplen, J. T. and Matthew, P. (1995). An autosomal genetic linkage map of the sheep genome. Genetics, 140 (2), 703-724.

The search for the Booroola (FecB) mutation

Montgomery, G. W., Penty, J. M., Lord, E. A. and Broom, M. F. (1995). The search for the Booroola (FecB) mutation. Journal of reproduction and fertility. Supplement, 49, 113-121.

AN APAI POLYMORPHISM AT THE OVINE TISSUE INHIBITOR OF METALLOPROTEINASE LOCUS (TIMP)

HANRAHAN, , PENTY, JM and MONTGOMERY, GW (1994). AN APAI POLYMORPHISM AT THE OVINE TISSUE INHIBITOR OF METALLOPROTEINASE LOCUS (TIMP). Animal Genetics, 25 (4), 287-287. doi: 10.1111/j.1365-2052.1994.tb00212.x

THE BOOROOLA FECUNDITY (FECB) GENE MAPS TO SHEEP CHROMOSOME-6

MONTGOMERY, GW, LORD, EA, PENTY, JM, DODDS, KG, BROAD, TE, CAMBRIDGE, L, SUNDEN, SLF, STONE, RT and CRAWFORD, AM (1994). THE BOOROOLA FECUNDITY (FECB) GENE MAPS TO SHEEP CHROMOSOME-6. Genomics, 22 (1), 148-153. doi: 10.1006/geno.1994.1355

SHEEP LINKAGE MAPPING - 19 LINKAGE GROUPS DERIVED FROM THE ANALYSIS OF PATERNAL HALF-SIB FAMILIES

CRAWFORD, AM, MONTGOMERY, GW, PIERSON, CA, BROWN, T, DODDS, KG, SUNDEN, SLF, HENRY, HM, EDE, AJ, SWARBRICK, PA, BERRYMAN, T, PENTY, JM and HILL, DF (1994). SHEEP LINKAGE MAPPING - 19 LINKAGE GROUPS DERIVED FROM THE ANALYSIS OF PATERNAL HALF-SIB FAMILIES. Genetics, 137 (2), 573-579.

GENETIC-LINKAGE OF PROTEOLIPID PROTEIN (PLP) AND THYROXINE-BINDING GLOBULIN (TBG) ON THE OVINE X-CHROMOSOME

SISE, JA, HANRAHAN, , MONTGOMERY, GW and HILL, DF (1994). GENETIC-LINKAGE OF PROTEOLIPID PROTEIN (PLP) AND THYROXINE-BINDING GLOBULIN (TBG) ON THE OVINE X-CHROMOSOME. Cytogenetics and Cell Genetics, 66 (4), 250-252. doi: 10.1159/000133705

AN XBA RFLP AT THE OVINE BASIC FIBROBLAST GROWTH-FACTOR LOCUS (FGFB)

PENTY, JM and MONTGOMERY, GW (1993). AN XBA RFLP AT THE OVINE BASIC FIBROBLAST GROWTH-FACTOR LOCUS (FGFB). Animal Genetics, 24 (4), 329-329. doi: 10.1111/j.1365-2052.1993.tb00328.x

THE DUPLICATED GENE COPY OF THE OVINE GROWTH-HORMONE GENE CONTAINS A PVUII POLYMORPHISM IN THE 2ND INTRON

GOOTWINE, E, SISE, JA, PENTY, JM and MONTGOMERY, GW (1993). THE DUPLICATED GENE COPY OF THE OVINE GROWTH-HORMONE GENE CONTAINS A PVUII POLYMORPHISM IN THE 2ND INTRON. Animal Genetics, 24 (4), 319-321. doi: 10.1111/j.1365-2052.1993.tb00321.x

THE OVINE BOOROOLA FECUNDITY GENE (FECB) IS LINKED TO MARKERS FROM A REGION OF HUMAN CHROMOSOME-4Q

MONTGOMERY, GW, CRAWFORD, AM, PENTY, JM, DODDS, KG, EDE, AJ, HENRY, HM, PIERSON, CA, LORD, EA, GALLOWAY, SM, SCHMACK, AE, SISE, JA, SWARBRICK, PA, HANRAHAN, , BUCHANAN, FC and HILL, DF (1993). THE OVINE BOOROOLA FECUNDITY GENE (FECB) IS LINKED TO MARKERS FROM A REGION OF HUMAN CHROMOSOME-4Q. Nature Genetics, 4 (4), 410-414. doi: 10.1038/ng0893-410

A BglII RFLP at the ovine MHC class II DRA locus

Escayg, A. P., Montgomery, G. W., Hickford, J. G. and Bullock, D. W. (1993). A BglII RFLP at the ovine MHC class II DRA locus. Animal Genetics, 24 (3), 217-217. doi: 10.1111/j.1365-2052.1993.tb00292.x

Testing for linkage between a marker locus and a major gene locus in half-sib families

Dodds, K. G., Montgomery, G. W. and Tate, M. L. (1993). Testing for linkage between a marker locus and a major gene locus in half-sib families. Journal of Heredity, 84 (1), 43-48. doi: 10.1093/oxfordjournals.jhered.a111275

GENES ENCODING THE ALPHA-CHAINS AND BETA-CHAINS OF FOLLICLE-STIMULATING-HORMONE ARE NOT SITES FOR THE BOOROOLA (FEC(B)) MUTATION IN SHEEP

MONTGOMERY, GW, PENTY, JM, SISE, JA and TOU, HM (1992). GENES ENCODING THE ALPHA-CHAINS AND BETA-CHAINS OF FOLLICLE-STIMULATING-HORMONE ARE NOT SITES FOR THE BOOROOLA (FEC(B)) MUTATION IN SHEEP. Journal of Reproduction and Fertility, 95 (3), 895-901.

PHYSIOLOGY AND MOLECULAR-GENETICS OF MUTATIONS THAT INCREASE OVULATION RATE IN SHEEP

MONTGOMERY, GW, MCNATTY, KP and DAVIS, GH (1992). PHYSIOLOGY AND MOLECULAR-GENETICS OF MUTATIONS THAT INCREASE OVULATION RATE IN SHEEP. Endocrine Reviews, 13 (2), 309-328. doi: 10.1210/er.13.2.309

A PVUII POLYMORPHISM AT THE OVINE CORTICOTROPIN RELEASING HORMONE (CRH) LOCUS

SISE, JA and MONTGOMERY, GW (1992). A PVUII POLYMORPHISM AT THE OVINE CORTICOTROPIN RELEASING HORMONE (CRH) LOCUS. Animal Genetics, 23 (1), 86-86. doi: 10.1111/j.1365-2052.1992.tb00241.x

A PVUII RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM AT THE OVINE UNCOUPLING PROTEIN LOCUS

TOU, HM, PENTY, JM and MONTGOMERY, GW (1992). A PVUII RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM AT THE OVINE UNCOUPLING PROTEIN LOCUS. Animal Genetics, 23 (1), 83-83. doi: 10.1111/j.1365-2052.1992.tb00238.x

GENETIC-LINKAGE ANALYSIS BETWEEN PROTEIN POLYMORPHISMS AND THE FEC(B) MAJOR GENE IN SHEEP

TATE, ML, MANLY, HC, DODDS, KG and MONTGOMERY, GW (1992). GENETIC-LINKAGE ANALYSIS BETWEEN PROTEIN POLYMORPHISMS AND THE FEC(B) MAJOR GENE IN SHEEP. Animal Genetics, 23 (5), 417-424. doi: 10.1111/j.1365-2052.1992.tb02160.x

SHEEP LINKAGE MAPPING - RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM DETECTION WITH HETEROLOGOUS CDNA PROBES

MONTGOMERY, GW, SISE, JA, PENTY, JM, TOU, HM and HILL, DF (1992). SHEEP LINKAGE MAPPING - RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM DETECTION WITH HETEROLOGOUS CDNA PROBES. Animal Genetics, 23 (5), 411-416. doi: 10.1111/j.1365-2052.1992.tb02159.x

A MSPI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM AT THE OVINE LOCUS FOR GLUCAGON

PENTY, JM and MONTGOMERY, GW (1991). A MSPI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM AT THE OVINE LOCUS FOR GLUCAGON. Animal Genetics, 22 (5), 440-440. doi: 10.1111/j.1365-2052.1991.tb00707.x

A PSTI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM AT THE OVINE LOCUS FOR POLY-UBIQUITIN

PENTY, JM and MONTGOMERY, GW (1991). A PSTI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM AT THE OVINE LOCUS FOR POLY-UBIQUITIN. Animal Genetics, 22 (5), 438-438. doi: 10.1111/j.1365-2052.1991.tb00705.x

A TAQI POLYMORPHISM AT THE OVINE ALPHA-INHIBIN LOCUS

SISE, JA, TOU, HM and MONTGOMERY, GW (1991). A TAQI POLYMORPHISM AT THE OVINE ALPHA-INHIBIN LOCUS. Animal Genetics, 22 (2), 195-195. doi: 10.1111/j.1365-2052.1991.tb00666.x

RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS AT THE OVINE LOCUS FOR THE ALPHA-SUBUNIT OF PITUITARY GLYCOPROTEIN HORMONES

PENTY, JM, SISE, JA and MONTGOMERY, GW (1991). RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS AT THE OVINE LOCUS FOR THE ALPHA-SUBUNIT OF PITUITARY GLYCOPROTEIN HORMONES. Animal Genetics, 22 (2), 198-198. doi: 10.1111/j.1365-2052.1991.tb00669.x

THE BOOROOLA F-GENE MUTATION IN SHEEP IS NOT LOCATED CLOSE TO THE FSH-BETA GENE

MONTGOMERY, GW, SISE, JA, GREENWOOD, PJ and FLEMING, JS (1990). THE BOOROOLA F-GENE MUTATION IN SHEEP IS NOT LOCATED CLOSE TO THE FSH-BETA GENE. Journal of Molecular Endocrinology, 5 (2), 167-173. doi: 10.1677/jme.0.0050167

Extraction of dna from sheep white blood cells

Montgomery, G. W. and Sise, J. A. (1990). Extraction of dna from sheep white blood cells. New Zealand Journal of Agricultural Research, 33 (3), 437-441. doi: 10.1080/00288233.1990.10428440

ABSENCE OF CIRCADIAN PATTERNS OF SECRETION OF MELATONIN OR CORTISOL IN WEDDELL SEALS UNDER CONTINUOUS NATURAL DAYLIGHT

BARRELL, GK and MONTGOMERY, GW (1989). ABSENCE OF CIRCADIAN PATTERNS OF SECRETION OF MELATONIN OR CORTISOL IN WEDDELL SEALS UNDER CONTINUOUS NATURAL DAYLIGHT. Journal of Endocrinology, 122 (2), 445-449. doi: 10.1677/joe.0.1220445

CONCENTRATIONS OF FSH ARE ELEVATED IN NEW-BORN EWE LAMBS CARRYING THE BOOROOLA F-GENE BUT NOT IN LAMBS FROM A PROLIFIC ROMNEY STRAIN

MONTGOMERY, GW, SCOTT, IC, LITTLEJOHN, RP, DAVIS, GH and PETERSON, AJ (1989). CONCENTRATIONS OF FSH ARE ELEVATED IN NEW-BORN EWE LAMBS CARRYING THE BOOROOLA F-GENE BUT NOT IN LAMBS FROM A PROLIFIC ROMNEY STRAIN. Reproduction Fertility and Development, 1 (4), 299-307. doi: 10.1071/RD9890299

Seasonal changes in ovulation rate in coopworth ewes maintained at different liveweights

Montgomery, G. W., Scott, I. C. and Johnstone, P. D. (1988). Seasonal changes in ovulation rate in coopworth ewes maintained at different liveweights. Animal Reproduction Science, 17 (3-4), 197-205. doi: 10.1016/0378-4320(88)90058-9

EFFECT OF ADRENALECTOMY ON LH-RELEASE IN SHEEP DURING THE ANESTROUS SEASON

MONTGOMERY, GW, MARTIN, GB, LOCATELLI, A and PELLETIER, J (1987). EFFECT OF ADRENALECTOMY ON LH-RELEASE IN SHEEP DURING THE ANESTROUS SEASON. Journal of Endocrinology, 114 (3), 437-442. doi: 10.1677/joe.0.1140437

SEASON INFLUENCES FSH CONCENTRATION IN OVARIECTOMIZED ILE-DE-FRANCE EWES

MONTGOMERY, GW, MARTIN, GB, BLANC, MR and PELLETIER, J (1987). SEASON INFLUENCES FSH CONCENTRATION IN OVARIECTOMIZED ILE-DE-FRANCE EWES. Journal of Reproduction and Fertility, 80 (1), 271-277. doi: 10.1530/jrf.0.0800271

SEASONAL REPRODUCTION IN EWES SELECTED ON SEASONAL-CHANGES IN WOOL GROWTH

MONTGOMERY, GW and HAWKER, H (1987). SEASONAL REPRODUCTION IN EWES SELECTED ON SEASONAL-CHANGES IN WOOL GROWTH. Journal of Reproduction and Fertility, 79 (1), 207-213. doi: 10.1530/jrf.0.0790207

AN INTERACTION BETWEEN SEASON OF CALVING AND NUTRITION ON THE RESUMPTION OF OVARIAN CYCLES IN POST-PARTUM BEEF-CATTLE

MONTGOMERY, GW, SCOTT, IC and HUDSON, N (1985). AN INTERACTION BETWEEN SEASON OF CALVING AND NUTRITION ON THE RESUMPTION OF OVARIAN CYCLES IN POST-PARTUM BEEF-CATTLE. Journal of Reproduction and Fertility, 73 (1), 45-50. doi: 10.1530/jrf.0.0730045

CHANGES IN PULSATILE LH-SECRETION AFTER OVARIECTOMY IN ILE-DE-FRANCE EWES IN 2 SEASONS

MONTGOMERY, GW, MARTIN, GB and PELLETIER, J (1985). CHANGES IN PULSATILE LH-SECRETION AFTER OVARIECTOMY IN ILE-DE-FRANCE EWES IN 2 SEASONS. Journal of Reproduction and Fertility, 73 (1), 173-183. doi: 10.1530/jrf.0.0730173

GONADOTROPIN-RELEASE IN OVARIECTOMIZED EWES FED DIFFERENT AMOUNTS OF COUMESTROL

MONTGOMERY, GW, MARTIN, GB, LEBARS, J and PELLETIER, J (1985). GONADOTROPIN-RELEASE IN OVARIECTOMIZED EWES FED DIFFERENT AMOUNTS OF COUMESTROL. Journal of Reproduction and Fertility, 73 (2), 457-463. doi: 10.1530/jrf.0.0730457

A new method for studying pituitary responsiveness in vivo using pulses of LH-RH analogue in ewes passively immunized against native LH-RH

Caraty, A., Martin, G. B. and Montgomery, G. (1984). A new method for studying pituitary responsiveness in vivo using pulses of LH-RH analogue in ewes passively immunized against native LH-RH. Reproduction Nutrition Developpement, 24 (4), 439-448. doi: 10.1051/rnd:19840409

SEASONAL DIFFERENCES IN OVARIAN ACTIVITY IN COWS

MCNATTY, KP, HUDSON, N, GIBB, M, HENDERSON, KM, LUN, S, HEATH, D and MONTGOMERY, GW (1984). SEASONAL DIFFERENCES IN OVARIAN ACTIVITY IN COWS. Journal of Endocrinology, 102 (2), 189-198. doi: 10.1677/joe.0.1020189

SOME ASPECTS OF THECAL AND GRANULOSA-CELL FUNCTION DURING FOLLICULAR DEVELOPMENT IN THE BOVINE OVARY

MCNATTY, KP, HEATH, DA, HENDERSON, KM, LUN, S, HURST, PR, ELLIS, LM, MONTGOMERY, GW, MORRISON, L and THURLEY, DC (1984). SOME ASPECTS OF THECAL AND GRANULOSA-CELL FUNCTION DURING FOLLICULAR DEVELOPMENT IN THE BOVINE OVARY. Journal of Reproduction and Fertility, 72 (1), 39-53.

Ovulation rates of first cross booroola compared with local breed ewes following differential feeding

Montgomery, G. W., Bray, A. R. and Kelly, R. W. (1983). Ovulation rates of first cross booroola compared with local breed ewes following differential feeding. Animal Reproduction Science, 6 (3), 209-215. doi: 10.1016/0378-4320(83)90039-8

Segregation of a major gene influencing fecundity in progeny of Booroola sheep

Davis, G. H., Montgomery, G. W., Allison, A. J., Kelly, R. W. and Bray, A. R. (1982). Segregation of a major gene influencing fecundity in progeny of Booroola sheep. New Zealand Journal of Agricultural Research, 25 (4), 525-529. doi: 10.1080/00288233.1982.10425216

INFLUENCE OF SUCKLING FREQUENCY AND BROMOCRYPTINE TREATMENT ON THE RESUMPTION OF OVARIAN CYCLES IN POSTPARTUM BEEF-CATTLE

MONTGOMERY, GW (1982). INFLUENCE OF SUCKLING FREQUENCY AND BROMOCRYPTINE TREATMENT ON THE RESUMPTION OF OVARIAN CYCLES IN POSTPARTUM BEEF-CATTLE. Theriogenology, 17 (5), 551-563. doi: 10.1016/0093-691X(82)90181-9

TRYPTOPHAN DEFICIENCY IN PIGS - CHANGES IN FOOD-INTAKE AND PLASMA-LEVELS OF GLUCOSE, AMINO-ACIDS, INSULIN AND GROWTH-HORMONE

MONTGOMERY, GW, FLUX, DS and GREENWAY, RM (1980). TRYPTOPHAN DEFICIENCY IN PIGS - CHANGES IN FOOD-INTAKE AND PLASMA-LEVELS OF GLUCOSE, AMINO-ACIDS, INSULIN AND GROWTH-HORMONE. Hormone and Metabolic Research, 12 (7), 304-309. doi: 10.1055/s-2007-996276

FEEDING PATTERNS IN PIGS - EFFECTS OF AMINO-ACID DEFICIENCY

MONTGOMERY, GW, FLUX, DS and CARR, (1978). FEEDING PATTERNS IN PIGS - EFFECTS OF AMINO-ACID DEFICIENCY. Physiology & Behavior, 20 (6), 693-698. doi: 10.1016/0031-9384(78)90294-9

Risk of iron deficiency in women with endometriosis: a population-based prospective cohort study

Gete, Dereje, Doust, Jenny, Mishra, Gita, Montgomery, Grant and Mortlock, Sally (2023). Risk of iron deficiency in women with endometriosis: a population-based prospective cohort study. Nutrition 2023, Boston, MA United States, 22-25 July 2023. Philadelphia, PA United States: Elsevier. doi: 10.1016/j.cdnut.2023.101350

Genomic Characterisation of Endometriosis Comorbidities Identifies Shared Genetic Risk Factors and Biological Pathways

McGrath, Isabelle M., Montgomery, Grant W. and Mortlock, Sally (2023). Genomic Characterisation of Endometriosis Comorbidities Identifies Shared Genetic Risk Factors and Biological Pathways. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane Australia, Mar 21-25, 2023. HEIDELBERG: SPRINGER HEIDELBERG.

Shared Genetic Factors in the Aetiology of Gastrointestinal Disorders and Endometriosis and Implications for Disease Management

Yang, Fei, Wu, Yeda, Hockey, Richard, Doust, Jenny, Mishra, Gita, Montgomery, Grant and Mortlock, Sally (2023). Shared Genetic Factors in the Aetiology of Gastrointestinal Disorders and Endometriosis and Implications for Disease Management. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane Australia, Mar 21-25, 2023. HEIDELBERG: SPRINGER HEIDELBERG.

Understanding the Pathogenesis of Endometriosis by Developing a Single Cell Atlas of Human Endometrial Stem/Progenitor Cells

Fitzgerald, Harriet C., Mortlock, Sally, Filby, Caitlin, Cousins, Fiona, Palawaththa, Shanika, McKinnon, Brett, Marquez-Garcia, Elizabeth, Montgomery, Grant W. and Gargett, Caroline (2023). Understanding the Pathogenesis of Endometriosis by Developing a Single Cell Atlas of Human Endometrial Stem/Progenitor Cells. 70th Annual Meeting of the Society for Reproductive Investigation (SRI), Brisbane Australia, Mar 21-25, 2023. HEIDELBERG: SPRINGER HEIDELBERG.

Comparison of Organoids from Menstrual Fluid and Endometrium from Women Taking Hormonal Medication: Potential for Modelling Endometriosis

Filby, Caitlin E., Wyatt, Katherine A., Mortlock, Sally, Cousins, Fiona L., McKinnon, Brett, Tyson, Kate, Montgomery, Grant W. and Gargett, Caroline E. (2022). Comparison of Organoids from Menstrual Fluid and Endometrium from Women Taking Hormonal Medication: Potential for Modelling Endometriosis. 69th Annual Meeting of the Society for Reproductive Investigation SRI 2022, Denver, CO United States, 15-19 March 2022. Heidelberg, Germany: Springer.

Using genetics to understand the relationship between non-cancerous gynaecological diseases and endometrial cancer risk

O'Mara, T. A., Kho, P., Mortlock, S., Montgomery, G. W., Spurdle, A. B. and Glubb, D. M. (2020). Using genetics to understand the relationship between non-cancerous gynaecological diseases and endometrial cancer risk. LONDON: SPRINGERNATURE.

Genetic Relationship Between Endometriosis and Ovarian Cancer Subtypes

Mortlock, Sally, Lawrenson, Kate, Gayther, Simon, Macgregor, Stuart, Pharoah, Paul, Montgomery, Grant and Kar, Siddhartha (2020). Genetic Relationship Between Endometriosis and Ovarian Cancer Subtypes. 67th Annual Scientific Meeting of the Society-for-Reproductive-Investigation (SRI), Vancouver, Canada, 10-14 March 2020. Heidelberg, Germany: Springer.

A direct test of the diathesis-stress model for depression

Conde, Lucia Colodro, Couvy-Duchesne, Baptiste, Zhu, Gu, Coventry, William, Byrne, Enda, Gordon, Scott, Wright, Margaret, Montgomery, Grant, Madden, Pamela, Ripke, Stephan, Eaves, Lindon, Heath, Andrew, Wray, Naomi, Medland, Sarah E. and Martin, Nick (2019). A direct test of the diathesis-stress model for depression. 25th World Congress of Psychiatric Genetics (WCPG), Orlando, FL United States, 13-17 October 2017. Amsterdam, Netherlands: Elsevier. doi: 10.1016/j.euroneuro.2017.08.045

Expression and Cellular Localization of Endometriosis Risk Gene Long Intergenic Non-Coding RNA 339 (LINC00339)

Holdsworth-Carson, Sarah J., Girling, Jane, Cann, Leonie, Healey, Martin, Fung, Jenny N., Montgomery, Grant and Rogers, Peter (2019). Expression and Cellular Localization of Endometriosis Risk Gene Long Intergenic Non-Coding RNA 339 (LINC00339). 66th Annual Scientific Meeting of the Society for Reproductive Investigation (SRI), Paris, France, 12-16 March 2019. Thousand Oaks, CA United States: Sage.

Generation of Immortalized Human Endometrial Stromal Cell Lines with Different Endometriosis Risk Genotypes

Holdsworth-Carson, Sarah J., Donoghue, Jacqueline, Colgrave, Eliza, Fung, Jenny N., Churchill, Molly, Healey, Martin, Montgomery, Grant, Girling, Jane and Rogers, Peter (2019). Generation of Immortalized Human Endometrial Stromal Cell Lines with Different Endometriosis Risk Genotypes. 66th Annual Scientific Meeting of the Society-for-Reproductive-Investigation (SRI), Paris, France, 12-16 March 2019. Thousand Oaks, CA, United States: Sage.

Identifying Target Genes for Endometriosis through Integration of Genetic Effects on Transcription and Methylation in Human Endometrium

Mortlock, Sally, Fung, Jenny N., Girling, Jane E., Holdsworth-Carson, Sarah J., Healey, Martin, Lukowski, Samuel W., McKinnon, Brett D., Yang, Jian, McRae, Allan, Rogers, Peter A. W. and Montgomery, Grant W. (2019). Identifying Target Genes for Endometriosis through Integration of Genetic Effects on Transcription and Methylation in Human Endometrium. 66th Annual Scientific Meeting of the Society for Reproductive Investigation (SRI), Paris, France, 12-16 March 2019. Thousand Oaks, CA, United States: Sage.

Obesity Does Not Impact on Endometrial Gene Expression in Women with Endometriosis

Holdsworth-Carson, Sarah J., Chung, Jessica, Healey, Martin, Fung, Jenny N., Montgomery, Grant, Rogers, Peter and Girling, Jane (2019). Obesity Does Not Impact on Endometrial Gene Expression in Women with Endometriosis. 66th Annual Scientific Meeting of the Society-for-Reproductive-Investigation (SRI), Paris, France, 12-16 March 2019 . Thousand Oaks, CA, United States: Sage.

Dynamic changes in gene regulation in human endometrium

Fung, Jenny N., Mortlock, Sally, Girling, Jane E., Holdsworth-Carson, Sarah J., Teh, Wan Tinn, Healey, Martin, Rogers, Peter A. W. and Montgomery, Grant W. (2018). Dynamic changes in gene regulation in human endometrium. 65th Annual Scientific Meeting of the Society for Reproductive Investigation (SRI), San Diego CA, United States, 6-10 March 2018. Thousand Oaks, CA United States: Sage Publications.

Signatures of negative selection in the genetic architecture of human complex traits

Zeng, Jian, de Vlaming, Ronald, Wu, Yang, Robinson, Matthew R., Lloyd-Jones, Luke R., Yengo, Loic, Yap, Chloe X., Xue, Angli, Sidorenko, Julia, Mcrae, Allan F., Powell, Joseph E., Montgomery, Grant W., Metspalu, Andres, Esko, Tonu, Gibson, Greg, Wray, Naomi R., Visscher, Peter M. and Yang, Jian (2018). Signatures of negative selection in the genetic architecture of human complex traits. 48th Annual Meeting of the Behavior-Genetics-Association (BGA), Boston MA, United States, 20-23 June 2018. New York, NY United States: Springer New York.

Endometriosis and Ovarian Cancer: Shared Genetic Risk and Common Mechanisms.

Montgomery, Grant W., Fung, Jenny N., Holdsworth-Carson, Sarah J., Girling, Jane E., Franch, Juliet D., Edwards, Stacey L., Powell, Joseph E. and Rogers, Peter A. W. (2017). Endometriosis and Ovarian Cancer: Shared Genetic Risk and Common Mechanisms.. 64th Annual Scientific Meeting of the Society-for-Reproductive-Investigation (SRI), Orlando Fl, Mar 15-18, 2017. THOUSAND OAKS: SAGE PUBLICATIONS INC.

Expression Quantitative Trait Loci (eQTL) Approaches for Understanding the Genetics of Endometriosis.

Rogers, Peter A. W., Holdsworth-Carson, Sarah J., Fung, Jenny N., Colgrave, Eliza M., Paiva, Premila, Girling, Jane E. and Montgomery, Grant W. (2017). Expression Quantitative Trait Loci (eQTL) Approaches for Understanding the Genetics of Endometriosis.. 64th Annual Scientific Meeting of the Society-for-Reproductive-Investigation (SRI), Orlando Fl, Mar 15-18, 2017. THOUSAND OAKS: SAGE PUBLICATIONS INC.

Genetic correlation between nausea and vomiting during pregnancy and major depressive disorder

Conde, Lucia Colodro, Paternoster, Lavinia, Lind, Penelope, Painter, Jodie, Wright, Margaret, Montgomery, Grant, Martin, Nicholas, Nyholt, Dale and Medland, Sarah (2017). Genetic correlation between nausea and vomiting during pregnancy and major depressive disorder. 47th Annual Meeting of the Behavior-Genetics-Association (BGA), Oslo, Norway, 28 June-1 July 2017. New York, NY United States: Springer New York.

Genetic risk for major depressive disorder as a predictor of nausea and vomiting during pregnancy

Conde, Lucia Colodro, Couvy-Duchesne, Baptiste, Lind, Penelope, Painter, Jodie, Wright, Margie, Montgomery, Grant, Nyholt, Dale and Medland, Sarah E. (2017). Genetic risk for major depressive disorder as a predictor of nausea and vomiting during pregnancy. 23rd Annual World Congress of Psychiatric Genetics (WCPG), Toronto, Canada, 16-20 October 2015. Amsterdam, Netherlands: Elsevier.

Research priorities for endometriosis: recommendations from a global consortium of investigators in endometriosis

Rogers, Peter A. W., Adamson, G. David, Al-Jefout, Moamar, Becker, Christian M., D'Hooghe, Thomas M., Dunselman, Gerard A. J., Fazleabas, Asgerally, Giudice, Linda C., Horne, Andrew W., Hull, M. Louise, Hummelshoj, Lone, Missmer, Stacey A., Montgomery, Grant W., Stratton, Pamela, Taylor, Robert N., Rombauts, Luk, Saunders, Philippa T., Vincent, Katy and Zondervan, Krina T. (2017). Research priorities for endometriosis: recommendations from a global consortium of investigators in endometriosis. 3rd International Consensus Workshop on Research Directions in Endometriosis, São Paulo, Brazil, 4 May 2014. Thousand Oaks, CA, United States: Sage Publications. doi: 10.1177/1933719116654991

Genome-wide association study of 6,939 individuals identifies five novel loci and suggests that prenatal exposure to testosterone is not a major determinant of individual differences in 2D:4D finger ratio

Warrington, Nicole, Hemani, Gibran, Hysi, Pirro, Mangino, Massimo, McMahon, George, Hickey, Martha, Wolke, Dieter, Montgomery, Grant, Pennell, Craig, Spector, Tim, Martin, Nicholas, Medland, Sarah and Evans, David (2016). Genome-wide association study of 6,939 individuals identifies five novel loci and suggests that prenatal exposure to testosterone is not a major determinant of individual differences in 2D:4D finger ratio. 46th Annual Meeting of the Behavior-Genetics-Association, Brisbane Australia, Jun 20-23, 2016. NEW YORK: SPRINGER.

Vitamin D receptor polymorphisms and keratinocyte skin cancers: a cohort study and meta-analysis

von Schuckmann, L. A., Law, M. H., Montgomery, G. W., Green, A. C. and van der Pols, J. C. (2015). Vitamin D receptor polymorphisms and keratinocyte skin cancers: a cohort study and meta-analysis. Australasian College of Dermatologists 48th Annual Scientific Meeting, Adelaide, Australia, 16 May 2015. Richmond, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/ajd.12337

Association analysis of 18 recently discovered serum urate loci with gout

Merriman, T., Phipps-Green, A., Topless, R., Merriman, M., Franklin, C., Jones, G., van Rij, A., Montgomery, G., Chapman, B., White, D., Stamp, L. and Dalbeth, N. (2014). Association analysis of 18 recently discovered serum urate loci with gout. 15th Annual European Congress of Rheumatology (EULAR), Paris, France, 11-14 June 2014. LONDON: BMJ PUBLISHING GROUP. doi: 10.1136/annrheumdis-2014-eular.4679

Identifying candidate gene effects by restricting search space in a multivariate genetic analysis of white matter microstructure

Warstadt, Nicholus M., Jahanshad, Neda, Dennis, Emily L., Kohannim, Omid, McMahon, Katie L., de Zubicaray, Greig I., Montgomery, Grant W., Henders, Anjali K., Martin, Nicholas G., Whitfield, John B., Wright, Margaret J. and Thompson, Paul M. (2014). Identifying candidate gene effects by restricting search space in a multivariate genetic analysis of white matter microstructure. Biomedical Imaging ISBI, Beijing, China, 29 April - 2 May, 2014. Piscataway, NJ, United States: IEEE. doi: 10.1109/ISBI.2014.6867881

Integrated genome wide DNA methylation and gene expression analysis identifies subgroups of colorectal cancer with distinct molecular and clinical features

Dumenil, T. D., Klein, K., Wockner, L. F., Mckeone, D. M., Bowdler, L. M., Montgomery, G. W., Leggett, B. A. and Whitehall, V. L. J. (2014). Integrated genome wide DNA methylation and gene expression analysis identifies subgroups of colorectal cancer with distinct molecular and clinical features. Australian Gastroenterology Week 2014, Broadbeach, QLD Australia, 22‐24 October 2014. Richmond, VIC Australia: Wiley-Blackwell Publishing Asia.

Isocitrate Dehydrogenase 1 R132C mutation occurs exclusively in microsatellite stable colorectal cancers with the CpG island methylator phenotype

Whitehall, V. L. J., Dumenil, T. D., Mckeone, D. M., Bond, C. E., Bettington, M. L., Buttenshaw, R. L., Bowdler, L., Montgomery, G. W., Wockner, L. F. and Leggett, B. A. (2014). Isocitrate Dehydrogenase 1 R132C mutation occurs exclusively in microsatellite stable colorectal cancers with the CpG island methylator phenotype. Australian Gastroenterology Week 2014, Broadbeach, QLD Australia, 22‐24 October 2014. HOBOKEN: WILEY-BLACKWELL.

Clarification of varying genetic expression and structure within adolescent monozygotic and dizygotic twins discordant for high and low attention and activity

Ebejer, Jane, Medland, Sarah, Martin, Nick G., Wright, Margaret, Montgomery, Grant, Powell, Joseph, Visscher, Peter and Duffy, David (2013). Clarification of varying genetic expression and structure within adolescent monozygotic and dizygotic twins discordant for high and low attention and activity. 43rd Annual Meeting of the Behavior-Genetics-Association, Marseille France, 28 June-02 July 2013. New York, NY United States: Springer New York LLC. doi: 10.1007/s10519-013-9623-9

Exhaustive search of the SNP-SNP interactome identifies epistatic effects on brain volume in two cohorts

Hibar, Derrek P., Stein, Jason L., Jahanshad, Neda, Kohannim, Omid, Toga, Arthur W., McMahon, Katie L., de Zubicaray, Greig I., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J., Weiner, Michael W. and Thompson, Paul M. (2013). Exhaustive search of the SNP-SNP interactome identifies epistatic effects on brain volume in two cohorts. 16th International Conference on Medical Image Computing and Computer Assisted Intervention, MICCAI 2013, Nagoya, Japan, 22-26 September 2013. Berlin, Germany: Springer. doi: 10.1007/978-3-642-40760-4_75

Genetic clustering on the hippocampal surface for genome-wide association studies

Hibar, Derrek P., Medland, Sarah E., Stein, Jason L., Kim, Sungeun, Shen, Li, Saykin, Andrew J., de Zubicaray, Greig I., McMahon, Katie L, Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J., Djurovic, Srdjan, Agartz, Ingrid A., Andreassen, Ole A. and Thompson, Paul M. (2013). Genetic clustering on the hippocampal surface for genome-wide association studies. 16th International Conference on Medical Image Computing and Computer Assisted Intervention, MICCAI 2013, Nagoya, Japan, 22-26 September 2013. Berlin, Germany: Springer. doi: 10.1007/978-3-642-40763-5_85

Genome-wide association for reading and language abilities in two population cohorts

Luciano, Michelle, Evans, David, Hansell, Narelle, Medland, Sarah, Montgomery, Grant, Martin, Nick G., Wright, Margaret and Bates, Timothy (2013). Genome-wide association for reading and language abilities in two population cohorts. 43rd Annual Meeting of the Behavior-Genetics-Association, Marseille, France, 28 June-2 July 2013. New York, NY United States: Springer New York.

Changes in Anatomical Brain Connectivity Between Ages 12 and 30: A HARDI Study of 484 Adolescents and Adults

Dennis, Emily L., Jahanshad, Neda, Toga, Arthur W., Johnson, Kori, McMahon, Katie L., de Zubicaray, Greig I., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J. and Thompson, Paul M. (2012). Changes in Anatomical Brain Connectivity Between Ages 12 and 30: A HARDI Study of 484 Adolescents and Adults. 9th IEEE International Symposium on Biomedical Imaging, Barcelona, Spain, 2-5 May 2012. Piscataway NJ, United States: IEEE. doi: 10.1109/ISBI.2012.6235695

Diffusion imaging protocol effects on genetic associations

Jahanshad, Neda, Kohannim, Omid, Toga, Arthur W., McMahon, Katie L., de Zubicaray, Greig I., Hansell, Narelle K., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J. and Thompson, Paul M. (2012). Diffusion imaging protocol effects on genetic associations. International Symposium on Biomedical Imaging, Barcelona, Spain, 2-5 May 2012. NEW YORK: IEEE. doi: 10.1109/ISBI.2012.6235712

Discovery of genes that affect human brain connectivity: a genome-wide analysis of the connectome

Jahanshad, Neda, Hibar, Derrek, Ryles, April, Toga, Arthur W., McMahon, Katie L., de Zubicaray, Greig I., Hansel, Narelle K., Montgomery, Grant W., Martin, Nicholas G., Wright, Margaret J. and Thompson, Paul M. (2012). Discovery of genes that affect human brain connectivity: a genome-wide analysis of the connectome. 9th International Symposium on Biomedical Imaging, Barcelona, Spain, 2-5 May 2012. Piscataway, NJ, United States: IEEE (Institute for Electrical and Electronic Engineers). doi: 10.1109/ISBI.2012.6235605

Evidence for the involvement of the RSG2 gene in risk for anxiety and related phenotypes in an elderly population not selected for this trait

Lendon, Corinne, Handoko, Herlina, Pritchard, Antonia, Lind, Penelope, Bentham, Peter, Montgomery, Grant, Wray, Naomi, Khoo, Soo-Keat, Pachana, Nancy and Byrne, Gerard (2011). Evidence for the involvement of the RSG2 gene in risk for anxiety and related phenotypes in an elderly population not selected for this trait. Alzheimer's Imaging Consortium, Paris, France, July 16-21, 2011. Elsevier. doi: 10.1016/j.jalz.2011.09.153

Common variants in the Trichohyalin gene are associated with straight hair in Europeans genetics and genodermatoses

Medland, S. E., Nyholt, D. R., Painter, J. N., McEvoy, B. P., McRae, A. F., Montgomery, G. W. and Martin, N. G. (2010). Common variants in the Trichohyalin gene are associated with straight hair in Europeans genetics and genodermatoses. 6th World Congress for Hair Research, Cairns, QLD, Australia, 16-19 June 2010. Oxford, United Kingdom: Wiley-Blackwell. doi: 10.1111/j.1600-0625.2010.01097.x

Genes for a component of the language acquisition mechanism: ROBO1 polymorphisms associated with phonological buffer deficits

Bates, Timothy C., Luciano, Michelle, Montgomery, Grant W., Wright, Margaret J. and Martin, Nicholas G. (2010). Genes for a component of the language acquisition mechanism: ROBO1 polymorphisms associated with phonological buffer deficits. Behavior Genetics Association 40th Annual Meeting, Seoul, Korea, 2-5 June 2010. New York, U.S.A.: Springer New York LLC. doi: 10.1007/s10519-010-9392-7

Genomewide association study of quantitative alcohol phenotypes in community-ascertained families

Martin, N., Madden, P., Pergadia, M., Nelson, E., Bucholz, K., Whitfield, J.B., Montgomery, G. and Heath, G. (2010). Genomewide association study of quantitative alcohol phenotypes in community-ascertained families. 2010 World Congress on International Society for Biomedical Research on Alcoholism, Paris, France, 13-16 September 2010. Hoboken, NJ, U.S.A.: Wiley-Blackwell Publishing. doi: 10.1111/j.1530-0277.2010.01292_3.x

4. Use of monozygotic twins to investigate the relationship between 5HTTLPR genotype, depression and stressful life events: An application of Item Response Theory

Wray, Naomi R., Coventry, William L., James, Michael R., Montgomery, Grant W., Eaves, Lindon J. and Martin, Nicholas G. (2008). 4. Use of monozygotic twins to investigate the relationship between 5HTTLPR genotype, depression and stressful life events: An application of Item Response Theory.

Genetic variation and endometriosis risk

Montgomery, G. W., Treloar, S. A., Kennedy, S. H. and Zondervan, K. T. (2008). Genetic variation and endometriosis risk. AGES XVIII Annual Scientific Meeting: Art and Science of Endometriosis. WCE 2008: 10th World Congress on Endometriosis, Melbourne, VIC, Australia, 11-14 March 2008. Malden, MA, U.S.A.: Blackwell Publishers.

Genome-wide scan for loci influencing the P3: An endophenotype for psychopathology

Wright, Margaret J., Luciano, Michelle, Hansell, Narelle K., Geffen, Gina M., Montgomery, Grant W. and Martin, Nicholas G. (2006). Genome-wide scan for loci influencing the P3: An endophenotype for psychopathology. World Congress on Alcohol Research (ISBRA 2006), Sydney, Australia, 10 - 13 September 2006. Oxford: Blackwell Publishing. doi: 10.1111/j.1530-0277.2006.00197.x

The international endogene study: a collection of families for genetic research in endometriosis

Treloar, Susan, Hadfield, Ruth, Montgomery, Grant, Lambert, ,Ann, Wicks, Jacki, Barlow, David H., O’Connor, Daniel T., Kennedy, Stephen and International Endogene Study Group (2002). The international endogene study: a collection of families for genetic research in endometriosis. New York: Elsevier. doi: 10.1016/S0015-0282(02)03341-1