The University of Queensland

Human genome-wide association studies

Kiel, Douglas P., Duncan, Emma L. and Rivadeneira, Fernando (2019). Human genome-wide association studies. Primer on the metabolic bone diseases and disorders of mineral metabolism. (pp. 378-384) edited by John P. Bilezikian. Hoboken, NJ, United States: John Wiley & Sons. doi: 10.1002/9781119266594.ch47

Genome-wide Association Studies

Duncan, Emma L. and Brown, Matthew A. (2013). Genome-wide Association Studies. Genetics of Bone Biology and Skeletal Disease. (pp. 93-100) edited by Rajesh V. Thakker, Michael P. Whyte, John A. Eisman and Takashi Igarashi. London UK: Elsevier Inc.. doi: 10.1016/B978-0-12-387829-8.00007-X

Courage in Decision Making: A Mixed-Methods Study of COVID-19 Vaccine Uptake in Women of Reproductive Age in the U.K

Magee, Laura A., Brown, Julia R., Bowyer, Vicky, Horgan, Gillian, Boulding, Harriet, Khalil, Asma, Cheetham, Nathan J., Harvey, Nicholas R., Mistry, Hiten D., Sudre, Carole, Silverio, Sergio A., von Dadelszen, Peter, Duncan, Emma L., COVID Symptom Study Biobank Consortium and RESILIENT Study Group (2024). Courage in Decision Making: A Mixed-Methods Study of COVID-19 Vaccine Uptake in Women of Reproductive Age in the U.K. Vaccines, 12 (4), 440. doi: 10.3390/vaccines12040440

The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence

Atkinson, Caroline, McInerney-Leo, Aideen, Proctor, Martina, Lanagan, Catherine, Stevenson, Alexander, Dehkhoda, Farhad, Caole, Mary, Maas, Ellie, Ainger, Stephen, Pritchard, Antonia, Johansson, Peter, Leo, Paul, Hayward, Nicholas, Sturm, Richard, Duncan, Emma and Gabrielli, Brian (2024). The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence. International Journal of Molecular Sciences, 25 (3), 1664. doi: 10.3390/ijms25031664

Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget’s disease of bone

Phillips, Jonathan, Subedi, Deepak, Lewis, Steff C, Keerie, Catriona, Cronin, Owen, Porteous, Mary, Moore, David, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan, Selby, Peter L, Turgut, Tolga, Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon, Young-Min, Steven, McKenna, Malachi J, Crowley, Rachel K, Fraser, William D, Tang, Jonathan C Y, Gennari, Luigi, Nuti, Rannuccio, Brandi, Maria Luisa, Del Pino-Montes, Javier, Devogelaer, Jean-Pierre, Durnez, Anne, Isaia, Giovanni Carlo, Di Stefano, Marco, Guanabens, Nuria ... Ralston, Stuart H (2023). Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget’s disease of bone. Annals of the Rheumatic Diseases, ard-2023. doi: 10.1136/ard-2023-224990

Author Correction: National surveillance data analysis of COVID-19 vaccine uptake in England by women of reproductive age (Nature Communications, (2023), 14, 1, (956), 10.1038/s41467-023-36125-8)

Magee, Laura A., Molteni, Erika, Bowyer, Vicky, Bone, Jeffrey N., Boulding, Harriet, Khalil, Asma, Mistry, Hiten D., Poston, Lucilla, Silverio, Sergio A., Wolfe, Ingrid, Duncan, Emma L., von Dadelszen, Peter, Bick, Debra, von Dadelszen, Peter, Easter, Abigail, Fox-Rushby, Julia, Mistry, Hiten D., Nelson, Eugene, Newburn, Mary, Seed, Paul, Soley-Bori, Marina, Van Citters, Aricca and White, Sara (2023). Author Correction: National surveillance data analysis of COVID-19 vaccine uptake in England by women of reproductive age (Nature Communications, (2023), 14, 1, (956), 10.1038/s41467-023-36125-8). Nature Communications, 14 (1) 5655, 5655. doi: 10.1038/s41467-023-41366-8

The effects of COVID-19 on cognitive performance in a community-based cohort: a COVID symptom study biobank prospective cohort study

Cheetham, Nathan J., Penfold, Rose, Giunchiglia, Valentina, Bowyer, Vicky, Sudre, Carole H., Canas, Liane S., Deng, Jie, Murray, Benjamin, Kerfoot, Eric, Antonelli, Michela, Rjoob, Khaled, Molteni, Erika, Österdahl, Marc F., Harvey, Nicholas R., Trender, William R., Malim, Michael H., Doores, Katie J., Hellyer, Peter J., Modat, Marc, Hammers, Alexander, Ourselin, Sebastien, Duncan, Emma L., Hampshire, Adam and Steves, Claire J. (2023). The effects of COVID-19 on cognitive performance in a community-based cohort: a COVID symptom study biobank prospective cohort study. eClinicalMedicine, 62 102086, 1-14. doi: 10.1016/j.eclinm.2023.102086

Profiling post-COVID-19 condition across different variants of SARS-CoV-2: a prospective longitudinal study in unvaccinated wild-type, unvaccinated alpha-variant, and vaccinated delta-variant populations

Canas, Liane S, Molteni, Erika, Deng, Jie, Sudre, Carole H, Murray, Benjamin, Kerfoot, Eric, Antonelli, Michela, Rjoob, Khaled, Capdevila Pujol, Joan, Polidori, Lorenzo, May, Anna, Österdahl, Marc F, Whiston, Ronan, Cheetham, Nathan J, Bowyer, Vicky, Spector, Tim D, Hammers, Alexander, Duncan, Emma L, Ourselin, Sebastien, Steves, Claire J and Modat, Marc (2023). Profiling post-COVID-19 condition across different variants of SARS-CoV-2: a prospective longitudinal study in unvaccinated wild-type, unvaccinated alpha-variant, and vaccinated delta-variant populations. The Lancet Digital Health, 5 (7), e421-e434. doi: 10.1016/s2589-7500(23)00056-0

Metabolomic and gut microbiome profiles across the spectrum of community-based COVID and non-COVID disease

Österdahl, Marc F., Whiston, Ronan, Sudre, Carole H., Asnicar, Francesco, Cheetham, Nathan J., Blanco Miguez, Aitor, Bowyer, Vicky, Antonelli, Michela, Snell, Olivia, dos Santos Canas, Liane, Hu, Christina, Wolf, Jonathan, Menni, Cristina, Malim, Michael, Hart, Deborah, Spector, Tim, Berry, Sarah, Segata, Nicola, Doores, Katie, Ourselin, Sebastien, Duncan, Emma L. and Steves, Claire J. (2023). Metabolomic and gut microbiome profiles across the spectrum of community-based COVID and non-COVID disease. Scientific Reports, 13 (1) 10407, 10407. doi: 10.1038/s41598-023-34598-7

Rare and common variants in GALNT3 may affect bone mass independently of phosphate metabolism

Hassan, Neelam, Gregson, Celia L., Tang, Haotian, Kamp, Marc van der, Leo, Paul, McInerney‐Leo, Aideen M., Zheng, Jie, Brandi, Maria Luisa, Tang, Jonathan C. Y., Fraser, William, Stone, Michael D., Grundberg, Elin, McCloskey, Eugene, Nicholson, Geoffrey C., Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip, Reid, Ian R., Dennison, Elaine M., Wark, John, Brown, Matthew A.., Duncan, Emma L., Tobias, Jonathan H. and Anglo‐Australasian Genetics Consortium (2023). Rare and common variants in GALNT3 may affect bone mass independently of phosphate metabolism. Journal of Bone and Mineral Research, 38 (5), 678-691. doi: 10.1002/jbmr.4795

Long-COVID fatigue is not predicted by pre-pandemic plasma IL-6 levels in mild COVID-19

Freidin, Maxim B., Cheetham, Nathan, Duncan, Emma L., Steves, Claire J., Doores, Katherine J., Malim, Michael H., Rossi, Niccolo, Lord, Janet M., Franks, Paul W., Borsini, Alessandra, Granville Smith, Isabelle, Falchi, Mario, Pariante, Carmine and Williams, Frances M. K. (2023). Long-COVID fatigue is not predicted by pre-pandemic plasma IL-6 levels in mild COVID-19. Inflammation Research, 72 (5), 947-953. doi: 10.1007/s00011-023-01722-2

National surveillance data analysis of COVID-19 vaccine uptake in England by women of reproductive age

Magee, Laura A., Molteni, Erika, Bowyer, Vicky, Bone, Jeffrey N., Boulding, Harriet, Khalil, Asma, Mistry, Hiten D., Poston, Lucilla, Silverio, Sergio A., Wolfe, Ingrid, Duncan, Emma L., von Dadelszen, Peter, Bick, Debra, von Dadelszen, Peter, Easter, Abigail, Fox-Rushby, Julia, Mistry, Hiten D., Nelson, Eugene, Newburn, Mary, Seed, Paul, Soley-Bori, Marina, Van Citters, Aricca, White, Sara and the RESILIENT Study Group (2023). National surveillance data analysis of COVID-19 vaccine uptake in England by women of reproductive age. Nature Communications, 14 (1) 956, 1-8. doi: 10.1038/s41467-023-36125-8

High bone mass disorders: new insights from connecting the clinic and the bench

Bergen, Dylan J.M., Maurizi, Antonio, Formosa, Melissa M., McDonald, Georgina L.K., El‐Gazzar, Ahmed, Hassan, Neelam, Brandi, Maria‐Luisa, Riancho, José A., Rivadeneira, Fernando, Ntzani, Evangelia, Duncan, Emma L., Gregson, Celia L., Kiel, Douglas P., Zillikens, M. Carola, Sangiorgi, Luca, Högler, Wolfgang, Duran, Ivan, Mäkitie, Outi, Van Hul, Wim and Hendrickx, Gretl (2023). High bone mass disorders: new insights from connecting the clinic and the bench. Journal of Bone and Mineral Research, 38 (2), 229-247. doi: 10.1002/jbmr.4715

PPI‐induced changes in plasma metabolite levels influence total hip bone mineral density in a UK cohort

Zhang, Xinyuan, Adebayo, Adewale S., Wang, Dongmeng, Raza, Yasrab, Tomlinson, Max, Dooley, Hannah, Bowyer, Ruth C.E., Small, Kerrin S., Steves, Claire J., Spector, Tim D., Duncan, Emma L., Visconti, Alessia and Falchi, Mario (2023). PPI‐induced changes in plasma metabolite levels influence total hip bone mineral density in a UK cohort. Journal of Bone and Mineral Research, 38 (2), 326-334. doi: 10.1002/jbmr.4754

Antibody levels following vaccination against SARS-CoV-2: associations with post-vaccination infection and risk factors in two UK longitudinal studies

Cheetham, Nathan J., Kibble, Milla, Wong, Andrew, Silverwood, Richard J., Knuppel, Anika, Williams, Dylan M., Hamilton, Olivia K.L., Lee, Paul H., Bridger Staatz, Charis, Di Gessa, Giorgio, Zhu, Jingmin, Katikireddi, Srinivasa Vittal, Ploubidis, George B., Thompson, Ellen J., Bowyer, Ruth C.E., Zhang, Xinyuan, Abbasian, Golboo, Garcia, Maria Paz, Hart, Deborah, Seow, Jeffrey, Graham, Carl, Kouphou, Neophytos, Acors, Sam, Malim, Michael H., Mitchell, Ruth E., Northstone, Kate, Major-Smith, Daniel, Matthews, Sarah, Breeze, Thomas ... Steves, Claire J. (2023). Antibody levels following vaccination against SARS-CoV-2: associations with post-vaccination infection and risk factors in two UK longitudinal studies. eLife, 12 e80428, 1-27. doi: 10.7554/elife.80428

Concordance of B- and T-cell responses to SARS-CoV-2 infection, irrespective of symptoms suggestive of COVID-19

Österdahl, Marc F., Christakou, Eleni, Hart, Deborah, Harris, Ffion, Shahrabi, Yasaman, Pollock, Emily, Wadud, Muntaha, Spector, Tim D., Brown, Matthew A., Seow, Jeffrey, Malim, Michael H., Steves, Claire J., Doores, Katie J., Duncan, Emma L. and Tree, Timothy (2022). Concordance of B- and T-cell responses to SARS-CoV-2 infection, irrespective of symptoms suggestive of COVID-19. Journal of Medical Virology, 94 (11), 5217-5224. doi: 10.1002/jmv.28016

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors

Alankarage, Dimuthu, Enriquez, Annabelle, Steiner, Robert D., Raggio, Cathy, Higgins, Megan, Milnes, Di, Humphreys, David T., Duncan, Emma L., Sparrow, Duncan B., Giampietro, Philip F., Chapman, Gavin and Dunwoodie, Sally L. (2022). Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation, 128, 1-12. doi: 10.1016/j.diff.2022.09.002

ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition—implications for COVID-19

El-Sayed Moustafa, Julia S., Jackson, Anne U., Brotman, Sarah M., Guan, Li, Villicaña, Sergio, Roberts, Amy L., Zito, Antonino, Bonnycastle, Lori, Erdos, Michael R., Narisu, Narisu, Stringham, Heather M., Welch, Ryan, Yan, Tingfen, Lakka, Timo, Parker, Stephen, Tuomilehto, Jaakko, Seow, Jeffrey, Graham, Carl, Huettner, Isabella, Acors, Sam, Kouphou, Neophytos, Wadge, Samuel, Duncan, Emma L., Steves, Claire J., Doores, Katie J., Malim, Michael H., Collins, Francis S., Pajukanta, Päivi, Boehnke, Michael ... Small, Kerrin S. (2022). ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition—implications for COVID-19. International Journal of Obesity, 46 (8), 1478-1486. doi: 10.1038/s41366-022-01136-w

Post-vaccination infection rates and modification of COVID-19 symptoms in vaccinated UK school-aged children and adolescents: A prospective longitudinal cohort study

Molteni, Erika, Canas, Liane S., Kläser, Kerstin, Deng, Jie, Bhopal, Sunil S., Hughes, Robert C., Chen, Liyuan, Murray, Benjamin, Kerfoot, Eric, Antonelli, Michela, Sudre, Carole H., Pujol, Joan Capdevila, Polidori, Lorenzo, May, Anna, Hammers, Alexander, Wolf, Jonathan, Spector, Tim D., Steves, Claire J., Ourselin, Sebastien, Absoud, Michael, Modat, Marc and Duncan, Emma L. (2022). Post-vaccination infection rates and modification of COVID-19 symptoms in vaccinated UK school-aged children and adolescents: A prospective longitudinal cohort study. The Lancet Regional Health - Europe, 19 100429, 1-15. doi: 10.1016/j.lanepe.2022.100429

Long COVID burden and risk factors in 10 UK longitudinal studies and electronic health records

Thompson, Ellen J., Williams, Dylan M., Walker, Alex J., Mitchell, Ruth E., Niedzwiedz, Claire L., Yang, Tiffany C., Huggins, Charlotte F., Kwong, Alex S. F., Silverwood, Richard J., Di Gessa, Giorgio, Bowyer, Ruth C. E., Northstone, Kate, Hou, Bo, Green, Michael J., Dodgeon, Brian, Doores, Katie J., Duncan, Emma L., Williams, Frances M. K., Walker, Alex J., MacKenna, Brian, Inglesby, Peter, Rentsch, Christopher T., Curtis, Helen J., Morton, Caroline E., Morley, Jessica, Mehrkar, Amir, Bacon, Seb, Hickman, George, Bates, Chris ... OpenSAFELY Collaborative (2022). Long COVID burden and risk factors in 10 UK longitudinal studies and electronic health records. Nature Communications, 13 (1) 3528, 1-11. doi: 10.1038/s41467-022-30836-0

The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer’

McInerney‐Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Toombs, Maree R., Brown, Matthew A. and Duncan, Emma L. (2022). The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer’. Journal of Genetic Counseling, 31 (3), 620-630. doi: 10.1002/jgc4.1529

Illness characteristics of COVID-19 in children infected with the SARS-CoV-2 delta variant

Molteni, Erika, Sudre, Carole H., Canas, Liane Dos Santos, Bhopal, Sunil S., Hughes, Robert C., Chen, Liyuan, Deng, Jie, Murray, Benjamin, Kerfoot, Eric, Antonelli, Michela, Graham, Mark, Kläser, Kerstin, May, Anna, Hu, Christina, Pujol, Joan Capdevila, Wolf, Jonathan, Hammers, Alexander, Spector, Timothy D., Ourselin, Sebastien, Modat, Marc, Steves, Claire J., Absoud, Michael and Duncan, Emma L. (2022). Illness characteristics of COVID-19 in children infected with the SARS-CoV-2 delta variant. Children, 9 (5) 652. doi: 10.3390/children9050652

Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2×2 partial factorial, randomised controlled trial

Chang, Anne B., Morgan, Lucy C., Duncan, Emma L., Chatfield, Mark D., Schultz, André, Leo, Paul J., McCallum, Gabrielle B., McInerney-Leo, Aideen M., McPhail, Steven M., Zhao, Yuejen, Kruljac, Catherine, Smith-Vaughan, Heidi C., Morris, Peter S., Marchant, Julie M., Yerkovich, Stephanie T., Cook, Anne L., Wurzel, Danielle, Versteegh, Lesley, O'Farrell, Hannah, McElrea, Margaret S., Fletcher, Sabine, D'Antoine, Heather, Stroil-Salama, Enna, Robinson, Phil J. and Grimwood, Keith (2022). Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2×2 partial factorial, randomised controlled trial. BMJ Open Respiratory Research, 9 (1) e001236, e001236. doi: 10.1136/bmjresp-2022-001236

Assessing the impact of the pandemic in children and adolescents: SARS-CoV-2 infection and beyond

Molteni, Erika, Absoud, Michael and Duncan, Emma L. (2022). Assessing the impact of the pandemic in children and adolescents: SARS-CoV-2 infection and beyond. The Lancet Child and Adolescent Health, 6 (4), 216-217. doi: 10.1016/S2352-4642(22)00035-9

Is secretory activation delayed in women with type two diabetes? A pilot study

Britten, Fiona L., Lai, Ching T., Geddes, Donna T., Callaway, Leonie K. and Duncan, Emma L. (2022). Is secretory activation delayed in women with type two diabetes? A pilot study. Nutrients, 14 (7) 1323. doi: 10.3390/nu14071323

Risk factors and disease profile of post-vaccination SARS-CoV-2 infection in UK users of the COVID Symptom Study app: a prospective, community-based, nested, case-control study

Antonelli, Michela, Penfold, Rose S., Merino, Jordi, Sudre, Carole H., Molteni, Erika, Berry, Sarah, Canas, Liane S., Graham, Mark S., Klaser, Kerstin, Modat, Marc, Murray, Benjamin, Kerfoot, Eric, Chen, Liyuan, Deng, Jie, Österdahl, Marc F., Cheetham, Nathan J., Drew, David A., Nguyen, Long H., Pujol, Joan Capdevila, Hu, Christina, Selvachandran, Somesh, Polidori, Lorenzo, May, Anna, Wolf, Jonathan, Chan, Andrew T., Hammers, Alexander, Duncan, Emma L., Spector, Tim D., Ourselin, Sebastien and Steves, Claire J. (2022). Risk factors and disease profile of post-vaccination SARS-CoV-2 infection in UK users of the COVID Symptom Study app: a prospective, community-based, nested, case-control study. The Lancet Infectious Diseases, 22 (1), 43-55. doi: 10.1016/S1473-3099(21)00460-6

Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding ErbB’s role in oncogenesis

McInerney-Leo, Aideen M., Chew, Hui Yi, Inglis, Po-Ling, Leo, Paul J., Joseph, Shannon R., Cooper, Caroline L., Okano, Satomi, Hassall, Tim, Anderson, Lisa, Bowman, Rayleen V., Gattas, Michael, Harris, Jessica E., Marshall, Mhairi S., Shaw, Janet G., Wheeler, Lawrie, Yang, Ian A., Brown, Matthew A., Fong, Kwun M., Simpson, Fiona and Duncan, Emma L. (2021). Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding ErbB’s role in oncogenesis. Human Molecular Genetics, 30 (24), 2393-2401. doi: 10.1093/hmg/ddab172

Anxiety and depression symptoms after COVID-19 infection: results from the COVID Symptom Study app

Klaser, Kerstin, Thompson, Ellen J., Nguyen, Long H., Sudre, Carole H., Antonelli, Michela, Murray, Benjamin, Canas, Liane S., Molteni, Erika, Graham, Mark S., Kerfoot, Eric, Chen, Liyuan, Deng, Jie, May, Anna, Hu, Christina, Guest, Andy, Selvachandran, Somesh, Drew, David A., Modat, Marc, Chan, Andrew T., Wolf, Jonathan, Spector, Tim D., Hammers, Alexander, Duncan, Emma L., Ourselin, Sebastien and Steves, Claire J. (2021). Anxiety and depression symptoms after COVID-19 infection: results from the COVID Symptom Study app. Journal of Neurology Neurosurgery and Psychiatry, 92 (12), 1254-1258. doi: 10.1136/jnnp-2021-327565

COVID-19 vaccination in pregnancy-number needed to vaccinate to avoid harm

Magee, Laura A., von Dadelszen, Peter, Kalafat, Erkan, Duncan, Emma L., O'Brien, Pat, Morris, Edward, Heath, Paul and Khalil, Asma (2021). COVID-19 vaccination in pregnancy-number needed to vaccinate to avoid harm. Lancet Infectious Diseases, 21 (12), 1627-1627. doi: 10.1016/S1473-3099(21)00691-5

Disentangling post-vaccination symptoms from early COVID-19

Canas, Liane S., Österdahl, Marc F., Deng, Jie, Hu, Christina, Selvachandran, Somesh, Polidori, Lorenzo, May, Anna, Molteni, Erika, Murray, Benjamin, Chen, Liyuan, Kerfoot, Eric, Klaser, Kerstin, Antonelli, Michela, Hammers, Alexander, Spector, Tim, Ourselin, Sebastien, Steves, Claire, Sudre, Carole H., Modat, Marc and Duncan, Emma L. (2021). Disentangling post-vaccination symptoms from early COVID-19. EClinicalMedicine, 42 101212, 1-10. doi: 10.1016/j.eclinm.2021.101212

Illness duration and symptom profile in symptomatic UK school-aged children tested for SARS-CoV-2

Molteni, Erika, Sudre, Carole H., Canas, Liane S., Bhopal, Sunil S., Hughes, Robert C., Antonelli, Michela, Murray, Benjamin, Kläser, Kerstin, Kerfoot, Eric, Chen, Liyuan, Deng, Jie, Hu, Christina, Selvachandran, Somesh, Read, Kenneth, Capdevila Pujol, Joan, Hammers, Alexander, Spector, Tim D., Ourselin, Sebastien, Steves, Claire J., Modat, Marc, Absoud, Michael and Duncan, Emma L. (2021). Illness duration and symptom profile in symptomatic UK school-aged children tested for SARS-CoV-2. The Lancet Child and Adolescent Health, 5 (10), 708-718. doi: 10.1016/S2352-4642(21)00198-X

PET detectives: molecular imaging for phaeochromocytomas and paragangliomas in the genomics era

Ryder, Simon J., Love, Amanda J., Duncan, Emma L. and Pattison, David A. (2021). PET detectives: molecular imaging for phaeochromocytomas and paragangliomas in the genomics era. Clinical Endocrinology, 95 (1), 13-28. doi: 10.1111/cen.14375

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young

Graff, Sarah M., Johnson, Stephanie R., Leo, Paul J., Dadi, Prasanna K., Dickerson, Matthew T., Nakhe, Arya Y., McInerney-Leo, Aideen M., Marshall, Mhairi, Zaborska, Karolina E., Schaub, Charles M., Brown, Matthew A., Jacobson, David A. and Duncan, Emma L. (2021). A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young. JCI Insight, 6 (13) 138057, 1-13. doi: 10.1172/jci.insight.138057

Unilateral hydrocephalus from a gangliocytoma-somatotrophinoma: first reported case

Ryder, Simon, Robusto, Jed, Robertson, Thomas, Alexander, Hamish and Duncan, Emma L. (2021). Unilateral hydrocephalus from a gangliocytoma-somatotrophinoma: first reported case. Endocrinology, Diabetes and Metabolism Case Reports, 2021 (1) 21-0037, 21-0037. doi: 10.1530/EDM-21-0037

A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: first reported case

Närhi, Anu, Fernandes, Andrea, Toiviainen‐Salo, Sanna, Harris, Jessica, McInerney‐Leo, Aideen, Lazarus, Syndia, Avela, Kristiina and Duncan, Emma L. (2021). A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: first reported case. American Journal of Medical Genetics Part A, 185 (8), 2477-2481. doi: 10.1002/ajmg.a.62257

Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

Youlten, Scott E., Kemp, John P., Logan, John G., Ghirardello, Elena J., Sergio, Claudio M., Dack, Michael R. G., Guilfoyle, Siobhan E., Leitch, Victoria D., Butterfield, Natalie C., Komla-Ebri, Davide, Chai, Ryan C., Corr, Alexander P., Smith, James T., Mohanty, Sindhu T., Morris, John A., McDonald, Michelle M., Quinn, Julian M. W., McGlade, Amelia R., Bartonicek, Nenad, Jansson, Matt, Hatzikotoulas, Konstantinos, Irving, Melita D., Beleza-Meireles, Ana, Rivadeneira, Fernando, Duncan, Emma, Richards, J. Brent, Adams, David J., Lelliott, Christopher J., Brink, Robert ... Croucher, Peter I. (2021). Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease. Nature Communications, 12 (1) 2444, 1-21. doi: 10.1038/s41467-021-22517-1

Attributes and predictors of long COVID

Sudre, Carole H., Murray, Benjamin, Varsavsky, Thomas, Graham, Mark S., Penfold, Rose S., Bowyer, Ruth C., Pujol, Joan Capdevila, Klaser, Kerstin, Antonelli, Michela, Canas, Liane S., Molteni, Erika, Modat, Marc, Jorge Cardoso, M., May, Anna, Ganesh, Sajaysurya, Davies, Richard, Nguyen, Long H., Drew, David A., Astley, Christina M., Joshi, Amit D., Merino, Jordi, Tsereteli, Neli, Fall, Tove, Gomez, Maria F., Duncan, Emma L., Menni, Cristina, Williams, Frances M. K., Franks, Paul W., Chan, Andrew T. ... Steves, Claire J. (2021). Attributes and predictors of long COVID. Nature Medicine, 27 (4), 626-631. doi: 10.1038/s41591-021-01292-y

Massively parallel sequencing for rare genetic disorders: potential and pitfalls

McInerney-Leo, Aideen M. and Duncan, Emma L. (2021). Massively parallel sequencing for rare genetic disorders: potential and pitfalls. Frontiers in Endocrinology, 11 628946, 628946. doi: 10.3389/fendo.2020.628946

Opportunities and challenges in functional genomics research in osteoporosis: report From a workshop held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020

Tobias, Jonathan H., Duncan, Emma L., Kague, Erika, Hammond, Chrissy L., Gregson, Celia L., Bassett, Duncan, Williams, Graham R., Min, Josine L., Gaunt, Tom R., Karasik, David, Ohlsson, Claes, Rivadeneira, Fernando, Edwards, James R., Hannan, Fadil M., Kemp, John P., Gilbert, Sophie J., Alonso, Nerea, Hassan, Neelam, Compston, Juliet E. and Ralston, Stuart H. (2021). Opportunities and challenges in functional genomics research in osteoporosis: report From a workshop held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020. Frontiers in Endocrinology, 11 630875, 630875. doi: 10.3389/fendo.2020.630875

A woman with visual loss, amenorrhoea and polyuria: the first reported case of nodular lymphocyte-predominant Hodgkin lymphoma presenting with hypopituitarism

Seymour, Matthew, Robertson, Thomas, Papacostas, Jason, Morris, Kirk, Gillespie, Jennifer, Norris, Debra and Duncan, Emma L. (2021). A woman with visual loss, amenorrhoea and polyuria: the first reported case of nodular lymphocyte-predominant Hodgkin lymphoma presenting with hypopituitarism. Endocrinology, Diabetes and Metabolism Case Reports, 2021 (1) 20-0100, 20-0100. doi: 10.1530/EDM-20-0100

Gene testing in everyday clinical use: lessons from the bone clinic

Duncan, Emma L (2020). Gene testing in everyday clinical use: lessons from the bone clinic. Journal of the Endocrine Society, 5 (4), bvaa200. doi: 10.1210/jendso/bvaa200

Multiple endocrine tumors associated with germline MAX mutations: multiple endocrine neoplasia type 5?

Seabrook, Amanda J., Harris, Jessica E., Velosa, Sofia B., Kim, Edward, McInerney-Leo, Aideen M., Dwight, Trisha, Hockings, Jason I., Hockings, Nicholas G., Kirk, Judy, Leo, Paul J., Love, Amanda J., Luxford, Catherine, Marshall, Mhairi, Mete, Ozgur, Pennisi, David J., Brown, Matthew A., Gill, Anthony J., Hockings, Gregory I., Clifton-Bligh, Roderick J. and Duncan, Emma L. (2020). Multiple endocrine tumors associated with germline MAX mutations: multiple endocrine neoplasia type 5?. Journal of Clinical Endocrinology and Metabolism, 106 (4), 1163-1182. doi: 10.1210/clinem/dgaa957

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

Martin, Ella M. M. A., Enriquez, Annabelle, Sparrow, Duncan B., Humphreys, David T., McInerney-Leo, Aideen M., Leo, Paul J., Duncan, Emma L., Iyer, Kavitha R., Greasby, Joelene A., Ip, Eddie, Giannoulatou, Eleni, Sheng, Delicia, Wohler, Elizabeth, Dimartino, Clémantine, Amiel, Jeanne, Capri, Yline, Lehalle, Daphné, Mory, Adi, Wilnai, Yael, Lebenthal, Yael, Gharavi, Ali G., Krzemień, Grażyna G., Miklaszewska, Monika, Steiner, Robert D., Raggio, Cathy, Blank, Robert, Baris Feldman, Hagit, Milo Rasouly, Hila, Sobreira, Nara L. M. ... Chapman, Gavin (2020). Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics, 29 (22), 3662-3678. doi: 10.1093/hmg/ddaa258

The Genetic Architecture of High Bone Mass

Gregson, Celia L. and Duncan, Emma L. (2020). The Genetic Architecture of High Bone Mass. Frontiers in Endocrinology, 11 595653. doi: 10.3389/fendo.2020.595653

The musculoskeletal knowledge portal: making omics data useful to the broader scientific community

Kiel, Douglas P., Kemp, John P., Rivadeneira, Fernando, Westendorf, Jennifer J., Karasik, David, Duncan, Emma, Imai, Yuuki, Müller, Ralph, Flannick, Jason, Bonewald, Lynda and Burtt, Noel (2020). The musculoskeletal knowledge portal: making omics data useful to the broader scientific community. Journal of Bone and Mineral Research, 35 (9) jbmr.4147, 1626-1633. doi: 10.1002/jbmr.4147

Causal attributions in an Australian Aboriginal family with Marfan syndrome: a qualitative study

McInerney-Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Brown, Matthew A. and Duncan, Emma (2020). Causal attributions in an Australian Aboriginal family with Marfan syndrome: a qualitative study. Frontiers in Genetics, 11 461, 461. doi: 10.3389/fgene.2020.00461

Characteristics of early Paget's disease in SQSTM1 mutation carriers: Baseline analysis of the ZiPP study cohort

Cronin, Owen, Subedi, Deepak, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C., Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Lakshminarayan, Ranganath, Selby, Peter, Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon, Min, Steven Young, McKenna, Malachi, Crowley, Rachel, Fraser, William D., Tang, Jonathan, Gennari, Luigi, Nuti, Rannuccio, Brandi, Maria‐Luisa, Pino‐Montes, Javier, Devogelaer, Jean‐Pierre, Durnez, Anne, Isaia, Giovanni Carlo, Di Stefano, Marco, Rubio, Josep Blanch ... Ralston, Stuart H. (2020). Characteristics of early Paget's disease in SQSTM1 mutation carriers: Baseline analysis of the ZiPP study cohort. Journal of Bone and Mineral Research, 35 (7) jbmr.4007, 1246-1252. doi: 10.1002/jbmr.4007

Compound heterozygous mutation in FBN1 in a large family with Marfan syndrome

McInerney-Leo, Aideen M., West, Jennifer A., Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm J. and Duncan, Emma L. (2020). Compound heterozygous mutation in FBN1 in a large family with Marfan syndrome. Molecular Genetics and Genomic Medicine, 8 (3) e1116, e1116. doi: 10.1002/mgg3.1116

Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

McInerney-Leo, Aideen M., West, Jennifer A., McGill, Jim J., Brown, Matthew A., Duncan, Emma L. and West, Malcolm J. (2020). Use of the arm-span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging. American Journal of Medical Genetics, Part A, 182 (4) ajmg.a.61474, 829-830. doi: 10.1002/ajmg.a.61474

A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis

Gregson, Celia L., Bergen, Dylan J. M., Leo, Paul, Sessions, Richard B., Wheeler, Lawrie, Hartley, April, Youlten, Scott, Croucher, Peter I., McInerney-Leo, Aideen M., Fraser, William, Tang, Jonathan C.Y., Anderson, Lisa, Marshall, Mhairi, Sergot, Leon, Paternoster, Lavinia, Davey Smith, George, Brown, Matthew A., Hammond, Chrissy, Kemp, John P., Tobias, Jon H. and Duncan, Emma L. (2019). A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signaling pathway as a potential anabolic target for osteoporosis. Journal of Bone and Mineral Research, 35 (1) jbmr.3875, 92-105. doi: 10.1002/jbmr.3875

Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone

Cronin, Owen, Forsyth, Laura, Goodman, Kirsteen, Lewis, Steff C., Keerie, Catriona, Walker, Allan, Porteous, Mary, Cetnarskyj, Roseanne, Ranganath, Lakshminarayan R., Selby, Peter L., Hampson, Geeta, Chandra, Rama, Ho, Shu, Tobias, Jon H., Young-Min, Steven, McKenna, Malachi J., Crowley, Rachel K., Fraser, William D., Gennari, Luigi, Nuti, Ranuccio, Brandi, Maria Luisa, Del Pino-Montes, Javier, Devogelaer, Jean-Pierre, Durnez, Anne, Isaia, Giancarlo, Di Stefano, Marco, Guañabens, Núria, Blanch, Josep, Seibel, Markus J. ... Ralston, Stuart H. (2019). Zoledronate in the prevention of Paget's (ZiPP): protocol for a randomised trial of genetic testing and targeted zoledronic acid therapy to prevent SQSTM1-mediated Paget's disease of bone. BMJ Open, 9 (9) e030689, e030689. doi: 10.1136/bmjopen-2019-030689

Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene

Brown, Matthew A., Duncan, Emma L. and Evans, David M. (2019). Vitamin D-Binding Protein Deficiency and Homozygous Deletion of the GC Gene. The New England Journal of Medicine, 380 (26), 2583-2583. doi: 10.1056/NEJMc1905282

Response to Comment on Johnson et al. Cost-effectiveness analysis of routine screening using massively parallel sequencing for maturity-onset diabetes of the young in a pediatric diabetes cohort: reduced health system costs and improved patient quality of life. Diabetes Care 2019;42:69–76

Johnson, Stephanie R., Carter, Hannah E., Leo, Paul, Hollingworth, Samantha A., Davis, Elizabeth A., Jones, Timothy W., Conwell, Louise S., Harris, Mark, Brown, Matthew A., Graves, Nicholas and Duncan, Emma L. (2019). Response to Comment on Johnson et al. Cost-effectiveness analysis of routine screening using massively parallel sequencing for maturity-onset diabetes of the young in a pediatric diabetes cohort: reduced health system costs and improved patient quality of life. Diabetes Care 2019;42:69–76. Diabetes Care, 42 (5), e79-e80. doi: 10.2337/dci19-0010

Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort

Johnson, Stephanie R., Ellis, Jonathan J., Leo, Paul, Anderson, Lisa K., Ganti, Uma, Harris, Jessica E., Curran, Jacqueline A., McInerney-Leo, Aideen, Paramalingam, Nirubasini, Song, Xiaoxia, Conwell, Louise S., Harris, Mark, Jones, Timothy W., Brown, Matthew A., Davis, Elizabeth A. and Duncan, Emma L. (2019). Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort. Pediatric Diabetes, 20 (1), 57-64. doi: 10.1111/pedi.12766

Cost-effectiveness analysis of routine screening using massively parallel sequencing for maturity-onset diabetes of the young in a pediatric diabetes cohort: reduced health system costs and improved patient quality of life

Johnson, Stephanie R., Carter, Hannah E., Leo, Paul, Hollingworth, Samantha A., Davis, Elizabeth A., Jones, Timothy W., Conwell, Louise S., Harris, Mark, Brown, Matthew A., Graves, Nicholas and Duncan, Emma L. (2019). Cost-effectiveness analysis of routine screening using massively parallel sequencing for maturity-onset diabetes of the young in a pediatric diabetes cohort: reduced health system costs and improved patient quality of life. Diabetes Care, 42 (1), 69-76. doi: 10.2337/dc18-0261

Atypical Femoral Fracture: A Fascinating Story in Evolution

Duncan, Emma L. (2018). Atypical Femoral Fracture: A Fascinating Story in Evolution. Journal of Bone and Mineral Research, 33 (12), 2089-2090. doi: 10.1002/jbmr.3629

HLA and KIR associations of cervical neoplasia

Bao, Xiao, Hanson, Aimee L., Madeleine, Margaret M., Wang, Sophia S., Schwartz, Stephen M., Newell, Felicity, Pettersson-Kymmer, Ulrika, Hemminki, Kari, Tiews, Sven, Steinberg, Winfried, Rader, Janet S., Castro, Felipe, Safaeian, Mahboobeh, Franco, Eduardo L., Coutlée, François, Ohlsson, Claes, Cortes, Adrian, Marshall, Mhairi, Mukhopadhyay, Pamela, Cremin, Katie, Johnson, Lisa G., Garland, Suzanne M., Tabrizi, Sepehr N., Wentzensen, Nicolas, Sitas, Freddy, Trimble, Cornelia, Little, Julian, Cruickshank, Maggie, Frazer, Ian H. ... Leo, Paul J. (2018). HLA and KIR associations of cervical neoplasia. The Journal of Infectious Diseases, 218 (12), 2006-2015. doi: 10.1093/infdis/jiy483

Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicing

Maharaj, Avinaash, Buonocore, Federica, Meimaridou, Eirini, Ruiz-Babot, Gerard, Guasti, Leonardo, Peng, Hwei-Ming, Capper, Cameron P., Burgos-Tirado, Neikelyn, Prasad, Rathi, Hughes, Claire R., Maudhoo, Ashwini, Crowne, Elizabeth, Cheetham, Timothy D., Brain, Caroline E., Suntharalingham, Jenifer P., Striglioni, Niccolò, Yuksel, Bilgin, Gurbuz, Fatih, Gupta, Sangay, Lindsay, Robert, Couch, Robert, Spoudeas, Helen A., Guran, Tulay, Johnson, Stephanie, Fowler, Dallas J, Conwell, Louise S., McInerney-Leo, Aideen M., Drui, Delphine, Cariou, Bertrand ... Metherell, Louise A. (2018). Predicted benign and synonymous variants in CYP11A1 causes primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3 (1), 201-221. doi: 10.1210/js.2018-00130

Bayesian approach to determining penetrance of pathogenic SDH variants

Benn, Diana E., Zhu, Ying, Andrews, Katrina A., Wilding, Mathilda, Duncan, Emma L., Dwight, Trisha, Tothill, Richard W., Burgess, John, Crook, Ashley, Gill, Anthony J., Hicks, Rodney J., Kim, Edward, Luxford, Catherine, Marfan, Helen, Richardson, Anne Louise, Robinson, Bruce, Schlosberg, Arran, Susman, Rachel, Tacon, Lyndal, Trainer, Alison, Tucker, Katherine, Maher, Eamonn R., Field, Michael and Clifton-Bligh, Roderick J. (2018). Bayesian approach to determining penetrance of pathogenic SDH variants. Journal of Medical Genetics, 55 (11), 729-734. doi: 10.1136/jmedgenet-2018-105427

Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): a novel ABCC8 mutation in a previously screened family

Johnson, Stephanie R., Leo, Paul, Conwell, Louise S., Harris, Mark, Brown, Matthew A. and Duncan, Emma L. (2018). Clinical usefulness of comprehensive genetic screening in maturity onset diabetes of the young (MODY): a novel ABCC8 mutation in a previously screened family. Journal of Diabetes, 10 (9), 764-767. doi: 10.1111/1753-0407.12778

Genome-wide association study of extreme high bone mass: contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes

Gregson, Celia L., Newell, Felicity, Leo, Paul J., Clark, Graeme R., Paternoster, Lavinia, Marshall, Mhairi, Forgetta, Vincenzo, Morris, John A., Ge, Bing, Bao, Xiao, Duncan Bassett, J. H., Williams, Graham R., Youlten, Scott E., Croucher, Peter I., Davey Smith, George, Evans, David M., Kemp, John P., Brown, Matthew A., Tobias, Jon H. and Duncan, Emma L. (2018). Genome-wide association study of extreme high bone mass: contribution of common genetic variation to extreme BMD phenotypes and potential novel BMD-associated genes. Bone, 114, 62-71. doi: 10.1016/j.bone.2018.06.001

Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia

Maung, Kyaw Ze Ya, Leo, Paul J., Bassal, Mahmoud, Casolari, Debora A., Gray, James X., Bray, Sarah C., Pederson, Stephen, Singhal, Deepak, Samaraweera, Saumya E., Nguyen, Tran, Cildir, Gökhan, Marshall, Mhairi, Ewing, Adam, Duncan, Emma L., Brown, Matthew A., Saal, Russell, Tergaonkar, Vinay, To, Luen Bik, Marlton, Paula, Gill, Devinder, Lewis, Ian, Deans, Andrew J., Brown, Anna L., D’Andrea, Richard J. and Gonda, Thomas J. (2018). Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia. Blood Cancer Journal, 8 (6) 50, 50. doi: 10.1038/s41408-018-0090-7

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

Johnson, S. R., Leo, P. J., McInerney-Leo, A. M., Anderson, L. K., Marshall, M., McGown, I., Newell, F., Brown, M. A., Conwell, L. S., Harris, M. and Duncan, E. L. (2018). Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. Pediatric Diabetes, 19 (4), 656-662. doi: 10.1111/pedi.12638

Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype

Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie Dahl, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma L, Mcinerney-Leo, Aideen M, Wheeler, Patricia G, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, Maryann, Eyre, David, Schwarze, Ulrike and Byers, Peter H (2018). Mutations that alter the carboxy-terminal-propeptide cleavage site of the chains of type I procollagen are associated with a unique osteogenesis imperfecta phenotype. Journal of Bone and Mineral Research, 33 (7), 1260-1271. doi: 10.1002/jbmr.3424

A novel INS mutation in a family with maturity-onset diabetes of the young: variable insulin secretion and putative mechanisms

Johnson, Stephanie R., Mcgown, Ivan, Oppermann, Udo, Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2018). A novel INS mutation in a family with maturity-onset diabetes of the young: variable insulin secretion and putative mechanisms. Pediatric Diabetes, 19 (5), 905-909. doi: 10.1111/pedi.12679

Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma

McInerney-Leo, A. M., Wheeler, L., Sturm, R. A., Tan, J. M., Harris, J. E., Anderson, L., Jagirdar, K., Brown, M. A., Leo, P. J., Soyer, H. P. and Duncan, E. L. (2018). Point mutation in p14ARF-specific exon 1β of CDKN2A causing familial melanoma and astrocytoma. British Journal of Dermatology, 178 (4), e263-e264. doi: 10.1111/bjd.16275

A screening approach to identify clinically actionable variants causing congenital heart disease in exome data

Szot, Justin O., Cuny, Hartmut, Blue, Gillian M., Humphreys, David T., Ip, Eddie, Harrison, Katrina, Sholler, Gary F., Giannoulatou, Eleni, Leo, Paul, Duncan, Emma L., Sparrow, Duncan B., Ho, Joshua W. K., Graham, Robert M., Pachter, Nicholas, Chapman, Gavin, Winlaw, David S. and Dunwoodie, Sally L. (2018). A screening approach to identify clinically actionable variants causing congenital heart disease in exome data. Circulation-Cardiovascular Genetics, 11 (3). doi: 10.1161/CIRCGEN.117.001978

An Adrenocortical Carcinoma Evolving From A Small Adrenal Incidentaloma After Years Of Latency

Thuzar, Moe, Perry-Keene, Donald A, d'Emden, Michael C and Duncan, Emma L (2018). An Adrenocortical Carcinoma Evolving From A Small Adrenal Incidentaloma After Years Of Latency. AACE Clinical Case Reports, 4 (1), e65-e69. doi: 10.4158/EP171931.CR

The physiological and glycaemic changes in breastfeeding women with type 1 diabetes mellitus

Achong, Naomi, Duncan, Emma L., McIntyre, H. David and Callaway, Leonie (2018). The physiological and glycaemic changes in breastfeeding women with type 1 diabetes mellitus. Diabetes Research and Clinical Practice, 135, 93-101. doi: 10.1016/j.diabres.2017.11.005

Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density

Alonso, Nerea, Estrada, Karol, Albagha, Omar M. E., Herrera, Lizbeth, Reppe, Sjur, Olstad, Ole K., Gautvik, Kaare M., Ryan, Niamh M., Evans, Kathryn L., Nielson, Carrie M., Hsu, Yi-Hsiang, Kiel, Douglas P., Markozannes, George, Ntzani, Evangelia E, Evangelou, Evangelos, Feenstra, Bjarke, Liu, Xueping, Melbye, Mads, Masi, Laura, Brandi, Maria Luisa, Riches, Philip, Daroszewska, Anna, Olmos, José Manuel, Valero, Carmen, Castillo, Jesús, Riancho, José A., Husted, Lise B., Langdahl, Bente L., Brown, Matthew A. ... Ralston, Stuart H. (2017). Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. Annals of Rheumatic Diseases, 77 (3), 378-385. doi: 10.1136/annrheumdis-2017-212469

Characterization of normal murine carpal bone development prompts re-evaluation of pathological osteolysis as the cause of human carpal-tarsal osteolysis disorders

Lazarus, Syndia, Tseng, Hsu-Wen, Lawrence, Felicity, Woodruff, Maria Ann, Duncan, Emma Letitia and Pettit, Allison Robyn (2017). Characterization of normal murine carpal bone development prompts re-evaluation of pathological osteolysis as the cause of human carpal-tarsal osteolysis disorders. American Journal of Pathology, 187 (9), 1923-1934. doi: 10.1016/j.ajpath.2017.05.007

NAD deficiency, congenital malformations, and niacin supplementation

Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella M. M. A., Wang, Roni, Moreau, Julie, Lim, Chai K., Szot, Justin O., Ip, Eddie, Hughes, James N., Sugimoto, Kotaro, Humphreys, David T., McInerney-Leo, Aideen M., Leo, Paul J., Maghzal, Ghassan J., Halliday, Jake, Smith, Janine, Colley, Alison, Mark, Paul R., Collins, Felicity, Sillence, David O., Winlaw, David S., Ho, Joshua W. K., Guillemin, Gilles J., Brown, Matthew A., Kikuchi, Kazu, Thomas, Paul Q., Stocker, Roland, Giannoulatou, Eleni ... Dunwoodie, Sally L. (2017). NAD deficiency, congenital malformations, and niacin supplementation. New England Journal of Medicine, 377 (6), 544-552. doi: 10.1056/NEJMoa1616361

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

Willems, Sara M., Wright, Daniel J., Day, Felix R., Trajanoska, Katerina, Joshi, Peter K., Morris, John A., Matteini, Amy M., Garton, Fleur C., Grarup, Niels, Oskolkov, Nikolay, Thalamuthu, Anbupalam, Mangino, Massimo, Liu, Jun, Demirkan, Ayse, Lek, Monkol, Xu, Liwen, Wang, Guan, Oldmeadow, Christopher, Gaulton, Kyle J., Lotta, Luca A., Miyamoto-Mikami, Eri, Rivas, Manuel A., White, Tom, Loh, Po-Ru, Aadahl, Mette, Amin, Najaf, Attia, John R., Austin, Krista, Benyamin, Beben ... Ohlsson, Claes (2017). Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nature Communications, 8 (1) 16015, 16015. doi: 10.1038/ncomms16015

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

Barraza-Garcia, J., Rivera-Pedroza, C. I., Hisado-Oliva, A., Belinchon-Martinez, A., Sentchordi-Montane, L., Duncan, E. L., Clark, G. R., del Pozo, A., Ibanez-Garikano, K., Offiah, A., Prieto-Matos, P., Cormier-Daire, V. and Heath, K. E. (2017). Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. Clinical Genetics, 92 (1), 91-98. doi: 10.1111/cge.12964

Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours

Flynn, Aidan, Dwight, Trisha, Benn, Diana, Deb, Siddhartha, Colebatch, Andrew J., Fox, Stephen, Harris, Jessica, Duncan, Emma L., Robinson, Bruce, Hogg, Annette, Ellul, Jason, To, Henry, Cuong Duong, Miller, Julie A., Yates, Christopher, James, Paul, Trainer, Alison, Gill, Anthony J., Clifton-Bligh, Roderick, Hicks, Rodney J. and Tothill, Richard W. (2017). Cousins not twins: intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours. Journal of Pathology, 242 (3), 273-283. doi: 10.1002/path.4900

Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic-pituitary-adrenal axis function after pituitary surgery

English, Katherine, Inder, Warrick J., Weedon, Zara, Dimeski, Goce, Sorbello, Jane, Russell, Anthony W., Duncan, Emma L. and Cuneo, Ross (2017). Prospective evaluation of a week one overnight metyrapone test with subsequent dynamic assessments of hypothalamic-pituitary-adrenal axis function after pituitary surgery. Clinical Endocrinology, 87 (1), 35-43. doi: 10.1111/cen.13334

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum

Mcinerney-Leo, Aideen M., Wheeler, Lawrie, Marshall, Mhairi S., Anderson, Lisa K., Zankl, Andreas, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2017). Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum. American Journal of Medical Genetics, 173 (6), 1698-1704. doi: 10.1002/ajmg.a.38215

Conclusions and future directions: ‘The known unknowns ….’

Duncan, Emma L. (2017). Conclusions and future directions: ‘The known unknowns ….’. Nephrology, 22 (S2), 70-71. doi: 10.1111/nep.13035

Is there a role or target value for nutritional vitamin D in chronic kidney disease?

Lim, Wai H. and Duncan, Emma L. (2017). Is there a role or target value for nutritional vitamin D in chronic kidney disease?. Nephrology, 22 (S2), 57-64. doi: 10.1111/nep.13027

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia

Wade, Emma M., Daniel, Philip B., Jenkins, Zandra A., McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie Claude, Ades, Lesley C., Bertola, Debora, Bohring, Axel, Carter, Erin, Cho, Tae-Joon, Duba, Hans-Christoph, Fletcher, Elaine, Kim, Chong A., Krakow, Deborah, Morava, Eva, Neuhann, Teresa, Superti-Furga, Andrea, Veenstra-Knol, Irma, Wieczorek, Dagmar, Wilson, Louise C., Hennekam, Raoul C. M., Sutherland-Smith, Andrew J., Strom, Tim M., Wilkie, Andrew O. M., Brown, Matthew A., Duncan, Emma L., Markie, David M. and Robertson, Stephen P. (2016). Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99 (2), 392-406. doi: 10.1016/j.ajhg.2016.05.024

Fryns syndrome associated with recessive mutations in PIGN in two separate families

Mcinerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher, Anderson, Lisa K., Wheeler, Lawrie, Brown, Matthew A., Leo, Paul J., Wicking, Carol and Duncan, Emma L. (2016). Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37 (7), 695-702. doi: 10.1002/humu.22994

Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease

Robinson, Philip C., Leo, Paul J, Pointon, Jennifer J., Harris, Jessica, Cremin, Katie, Bradbury, Linda A., Stebbings, Simon, Harrison, Andrew A., Australian Osteoporosis Genetics Consortium, Wellcome Trust Case Control Consortium, Management Committee, Data and Analysis Group, DNA, Genotyping, Data QC and Informatics Group, Publications Committee, Duncan, Emma L., Evans, David M., Wordsworth, Paul B. and Brown, Matthew A. (2016). Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease. NPJ Genomic Medicine, 1 (1) 16008, 16008-6. doi: 10.1038/npjgenmed.2016.8

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

Cortes, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondon Galeano, Maria C., Leo, Paul J., Harris, Jessica E., Anderson, Lisa K., Keith, Patricia A., Brown, Matthew A., Ramsing, Mette, Duncan, Emma L., Zankl, Andreas and Wicking, Carol (2016). Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Scientific Reports, 6 (1) 24083, 24083. doi: 10.1038/srep24083

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia

McInerney-Leo, Aideen M., Goff, Carine Le, Leo, Paul J., Kenna, Tony J., Keith, Patricia, Harris, Jessica E., Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, Brown, Matthew A., Zankl, Andreas, Duncan, Emma L. and Cormier-Daire, Valerie (2016). Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53 (7), 457-464. doi: 10.1136/jmedgenet-2015-103647

Mutations in known monogenic high bone mass loci only explain a small proportion of high bone mass cases

Gregson, Celia L., Wheeler, Lawrie, Hardcastle, Sarah A., Appleton, Louise H., Addison, Kathryn A., Brugmans, Marieke, Clark, Graeme R., Ward, Kate A., Paggiosi, Margaret, Stone, Mike, Thomas, Joegi, Agarwai, Rohan, Poole, Kenneth E. S., McCloskey, Eugene, Fraser, William D., Williams, Eleanor, Bullock, Alex N., Davery Smith, George, Brown, Matthew A., Tobias, Jon H. and Duncan, Emma L. (2016). Mutations in known monogenic high bone mass loci only explain a small proportion of high bone mass cases. Journal of Bone and Mineral Research, 31 (3), 640-649. doi: 10.1002/jbmr.2706

Pheo-type: a diagnostic gene-expression assay for the classification of pheochromocytoma and paraganglioma

Flynn, Aidan, Dwight, Trisha, Harris, Jessica, Benn, Diana, Zhou, Li, Hogg, Annette, Catchpoole, Daniel, James, Paul, Duncan, Emma L., Trainer, Alison, Gill, Anthony J., Clifton-Bligh, Roderick, Hicks, Rodney J. and Tothill, Richard W. (2016). Pheo-type: a diagnostic gene-expression assay for the classification of pheochromocytoma and paraganglioma. Journal of Clinical Endocrinology and Metabolism, 101 (4), 1034-1043. doi: 10.1210/jc.2015-3889

Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies

Niu, Tianhua, Liu, Ning, Yu, Xun, Zhao, Ming, Choi, Hyung Jin, Leo, Paul J., Brown, Matthew A., Zhang, Lei, Pei, Yu-Fang, Shen, Hui, He, Hao, Fu, Xiaoying, Lu, Shan, Chen, Xiang-Ding, Tan, Li-Jun, Yang, Tie-Lin, Guo, Yan, Cho, Nam H., Shen, Jie, Guo, Yan-Fang, Nicholson, Geoffrey C., Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Tian, Qing, Zhu, Xue-Zhen, Papasian, Christopher J., Duncan, Emma L. ... Deng, Hong-Wen (2016). Identification of IDUA and WNT16 Phosphorylation-Related Non-Synonymous Polymorphisms for Bone Mineral Density in Meta-Analyses of Genome-Wide Association Studies. Journal of Bone and Mineral Research, 31 (2), 358-368. doi: 10.1002/jbmr.2687

The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis

Robinson, P. C., Leo, P. J., Pointon, J. J., Harris, J., Cremin, K., Bradbury, L. A., Wellcome Trust Case Control Consortium, Australasian Osteoporosis Genetics Consortium (AOGC), Stebbings, S., Harrison, A. A., Evans, D. M., Duncan, E. L., Wordsworth, B. P. and Brown, M. A. (2016). The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis. Genes and Immunity, 17 (1), 46-51. doi: 10.1038/gene.2015.49

Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci

Reppe, Sjur, Wang, Yunpeng, Thompson, Wesley K., McEvoy, Linda K., Schork, Andrew J., Zuber, Verena, LeBlanc, Marissa, Bettella, Francesco, Mills, Ian G., Desikan, Rahul S., Djurovic, Srdjan, Gautvik, Kaare M., Dale, Anders M., Andreassen, Ole A., GEFOS Consortium, Willner, Dana, Duncan, Emma L, Leo, Paul J., Clark, Graeme R, Danoy, Patrick, Nicholson, Geoffrey C and Brown, Matthew A. (2015). Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci. PLoS ONE, 10 (12) e0144531, 0144531.1-0144531.20. doi: 10.1371/journal.pone.0144531

Glycaemic behaviour during breastfeeding in women with Type 1 diabetes

Achong, N., McIntyre, H. D., Callaway, L. and Duncan, E. L (2015). Glycaemic behaviour during breastfeeding in women with Type 1 diabetes. Diabetic Medicine, 33 (7), 947-955. doi: 10.1111/dme.12993

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Zheng, Hou-Feng, Forgetta, Vincenzo, Hsu, Yi-Hsiang, Estrada, Karol, Rosello-Diez, Alberto, Leo, Paul J., Dahia, Chitra L., Park-Min, Kyung Hyun, Tobias, Jonathan H., Kooperberg, Charles, Kleinman, Aaron, Styrkarsdottir, Unnur, Liu, Ching-Ti, Uggla, Charlotta, Evans, Daniel S., Nielson, Carrie M., Walter, Klaudia, Pettersson-Kymmer, Ulrika, McCarthy, Shane, Eriksson, Joel, Kwan, Tony, Jhamai, Mila, Trajanoska, Katerina, Memari, Yasin, Min, Josine, Huang, Jie, Danecek, Petr, Wilmot, Beth, Li, Rui ... UK10K Consortium (2015). Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature, 526 (7571), 112-117. doi: 10.1038/nature14878

Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin

Williams, Kelly L., McCann, Emily P., Fifita, Jennifer A., Zhang, Katharine., Duncan, Emma L., Leo, Paul J., Marshall, Mhairi., Rowe, Dominic B., Nicholson, Garth A. and Blair, Ian P. (2015). Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin. Neurobiology of Aging, 36 (12) ARTN 3334.e1, 3334.e1-3334.e5. doi: 10.1016/j.neurobiolaging.2015.08.013

Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies

Niu, Tianhua, Liu, Ning, Zhao, Ming, Xie, Guie, Zhang, Lei, Li, Jian, Pei, Yu-Fang, Shen, Hui, Fu, Xiaoying, He, Hao, Lu, Shan, Chen, Xiang-Ding, Tan, Li-Jun, Yang, Tie-Lin, Guo, Yan, Leo, Paul J., Duncan, Emma L., Shen, Jie, Guo, Yan-Fang, Nicholson, Geoffrey C., Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Hu, Xiang, Das, Partha M., Tian, Qing, Zhu, Xue-Zhen, Papasian, Christopher J. ... Deng, Hong-Wen (2015). Identification of a novel FGFRL1 MicroRNA target site polymorphism for bone mineral density in meta-analyses of genome-wide association studies. Human Molecular Genetics, 24 (16) ddv144, 4710-4727. doi: 10.1093/hmg/ddv144

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

McInerney-Leo, Aideen, Sparrow, Duncan B., Harris, Jessica, Gardiner, Brooke, Marshall, Mhairi, O'Reilly, Victoria C., Shi, Hongjun, Brown, Matthew A., Leo, Paul, Zankl, Andreas, Dunwoodie, Sally L. and Duncan, Emma (2015). Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24 (5), 1234-1242. doi: 10.1093/hmg/ddu534

The genetics of osteoporosis

Clark, Graeme R and Duncan, Emma L (2015). The genetics of osteoporosis. British Medical Bulletin, 113 (1), 73-81. doi: 10.1093/bmb/ldu042

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

McInerney-Leo, Aideen, Harris, Jessica E., Leo, Paul, Marshall, Mhairi, Gardiner, Brooke, Kinning, Esther, Leong, Huey Yin, McKenzie, Fiona, Ong, PeiTee, Vodopiutz, Julia, Wicking, Carol A., Brown, Matthew A., Zanki, Andreas and Duncan, Emma (2015). Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. Clinical Genetics, 88 (6), 550-557. doi: 10.1111/cge.12550

LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion

Loh, Nellie Y., Neville, Matt J., Marinou, Kyriakoula, Hardcastle, Sarah A., Fielding, Barbara A., Duncan, Emma L., McCarthy, Mark I., Tobias, Jonathan H., Gregson, Celia L., Karpe, Fredrik and Christodoulides, Constantinos (2015). LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion. Cell Metabolism, 21 (2), 262-272. doi: 10.1016/j.cmet.2015.01.009

The revolution in human monogenic disease mapping

Duncan, Emma, Brown, Matthew and Shore, Eileen M. (2014). The revolution in human monogenic disease mapping. Genes, 5 (3), 792-803. doi: 10.3390/genes5030792

Osteoporosis medication dispensing for older Australian women from 2002 to 2010: influences of publications, guidelines, marketing activities and policy

Peeters, Geeske, Tett, Susan E., Duncan, Emma L., Mishra, Gita D. and Dobson, Annette J. (2014). Osteoporosis medication dispensing for older Australian women from 2002 to 2010: influences of publications, guidelines, marketing activities and policy. Pharmacoepidemiology and Drug Safety, Early View (12), 1303-1311. doi: 10.1002/pds.3703

COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

McInerney-Leo, A. M., Duncan, E. L., Leo, P. J., Gardiner, B., Bradbury, L. A., Harris, J. E., Clark, G. R., Brown, M. A. and Zankl, A. (2014). COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?. Clinical Genetics, 88 (1), 49-55. doi: 10.1111/cge.12440

Elevated circulating sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations

Gregson, Celia L., Poole, Kenneth E. S., McCloskey, Eugene V., Duncan, Emma L., Rittweger, Jörn, Fraser, William D., Smith, George Davey and Tobias, Jonathan H. (2014). Elevated circulating sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations. Journal of Clinical Endocrinology and Metabolism, 99 (8), 2897-2907. doi: 10.1210/jc.2013-3958

Genetic determinants of heel bone properties: Genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

Moayyeri, Alireza, Hsu, Yi-Hsiang, Karasik, David, Estrada, Karol, Xiao, Su-Mei, Nielson, Carrie, Srikanth, Priya, Giroux, Sylvie, Wilson, Scott G., Zheng, Hou-Feng, Smith, Albert V., Pye, Stephen R., Leo, Paul J., Teumer, Alexander, Hwang, Joo-Yeon, Ohlsson, Claes, McGuigan, Fiona, Minster, Ryan L., Hayward, Caroline, Olmos, Jose M., Lyytikainen, Leo-Pekka, Lewis, Joshua R., Swart, Karin M. A., Masi, Laura, Oldmeadow, Chris, Holliday, Elizabeth G., Cheng, Sulin, van Schoor, Natasja M., Harvey, Nicholas C. ... Kaptoge, Stephen K. (2014). Genetic determinants of heel bone properties: Genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium. Human Molecular Genetics, 23 (11) ddt675, 3054-3068. doi: 10.1093/hmg/ddt675

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB (vol 90, pg 494, 2012)

Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephen, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien and Brown, Matthew A. (2014). Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB (vol 90, pg 494, 2012). American Journal of Human Genetics, 94 (4), 643-643. doi: 10.1016/j.ajhg.2012.03.019

Multi-stage genome-wide association meta-analyses identified two new loci for bone mineral density

Zhang, Lei, Choi, Hyung Jin, Estrada, Karol, Leo, Paul J., Li, Jian, Pei, Yu-Fang, Zhang, Yinping, Lin, Yong, Shen, Hui, Liu, Yao-Zhong, Liu, Yongjun, Zhao, Yingchun, Zhang, Ji-Gang, Tian, Qing, Wang, Yu-ping, Han, Yingying, Ran, Shu, Hai, Rong, Zhu, Xue-Zhen, Wu, Shuyan, Yan, Han, Liu, Xiaogang, Yang, Tie-Lin, Guo, Yan, Zhang, Feng, Guo, Yan-fang, Chen, Yuan, Chen, Xiangding, Tan, Lijun ... Deng, Hong-Wen (2014). Multi-stage genome-wide association meta-analyses identified two new loci for bone mineral density. Human Molecular Genetics, 23 (7), 1923-1933. doi: 10.1093/hmg/ddt575

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

Lazarus, Syndia, McInerney-Leo, Aideen M., McKenzie, Fiona A., Baynam, Gareth, Broley, Stephanie, Cavan, Barbra V., Munns, Craig F., Pruijs, Johannes Egbertus Hans, Sillence, David, Terhal, Paulien A., Pryce, Karena, Brown, Matthew A., Zankl, Andreas, Thomas, Gethin and Duncan, Emma L. (2014). The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V. BMC Musculoskeletal Disorders, 15 (107) 107, 1-6. doi: 10.1186/1471-2474-15-107

Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus

Oei, Ling, Estrada, Karol, Duncan, Emma L., Christiansen, Claus, Liu, Ching-Ti, Langdahl, Bente L., Obermayer-Pietsch, Barbara, Riancho, José A., Prince, Richard L., van Schoor, Natasja M., McCloskey, Eugene, Hsu, Yi-Hsiang, Evangelou, Evangelos, Ntzani, Evangelia, Evans, David M., Alonso, Nerea, Husted, Lise B., Valero, Carmen, Hernandez, Jose L., Lewis, Joshua R., Kaptoge, Stephen K., Zhu, Kun, Cupples, L. Adrienne, Medina-Gómez, Carolina, Vandenput, Liesbeth, Kim, Ghi Su, Lee, Seung Hun, Castaño-Betancourt, Martha C., Oei, Edwin H. G. ... Rivadeneira, Fernando (2014). Genome-wide association study for radiographic vertebral fractures: a potential role for the 16q24 BMD locus. Bone, 59, 20-27. doi: 10.1016/j.bone.2013.10.015

Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery

Lazarus, S., Zankl, A. and Duncan, E. L. (2014). Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporosis International, 25 (2), 407-422. doi: 10.1007/s00198-013-2443-1

Peripartum management of glycemia in women with type 1 diabetes

Achong, Naomi, Duncan, Emma L., McIntyre, H. David and Callaway, Leonie (2014). Peripartum management of glycemia in women with type 1 diabetes. Diabetes Care, 37 (2), 364-371. doi: 10.2337/dc13-1348

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Benn, Diana E., McFarlane, Janelle, Robinson, Bruce G., Brown, Matthew A., Leo, Paul J., Clifton-Bligh, Roderick J. and Duncan, Emma L. (2014). Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. Clinical Endocrinology, 80 (1), 25-33. doi: 10.1111/cen.12331

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

McInerney-Leo, Aideen M., Marshall, Mhairi S., Gardiner, Brooke, Coucke, Paul J., Van Laer, Lut, Loeys, Bart L., Summers, Kim M., Symoens, Sofie, West, Jennifer A., West, Malcolm J., Wordsworth, B. Paul, Zankl, Andreas, Leo, Paul J., Brown, Matthew A. and Duncan, Emma L. (2013). Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. BoneKEy Reports, 2 (456), 1-9. doi: 10.1038/bonekey.2013.190

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

Schmidts, Miriam, Vodopiutz, Julia, Christou-Savina, Sonia, Cortés, Claudio R., McInerney-Leo, Aideen M., Emes, Richard D., Arts, Heleen H., Tüysüz, Beyhan, D'Silva, Jason, Leo, Paul J., Giles, Tom C., Oud, Machteld M., Harris, Jessica A., Koopmans, Marije, Marshall, Mhairi, Elçioglu, Nursel, Kuechler, Alma, Bockenhauer, Detlef, Moore, Anthony T., Wilson, Louise C., Janecke, Andreas R., Hurles, Matthew E., Emmet, Warren, Gardiner, Brooke, Streubel, Berthold, Dopita, Belinda, Zankl, Andreas, Kayserili, Hülya, Scambler, Peter J. ... Mitchison, Hannah M. (2013). Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93 (5), 932-944. doi: 10.1016/j.ajhg.2013.10.003

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter, Jan, Bizet, Albane A., Schmidts, Miriam, Porath, Jonathan D., Braun, Daniela A., Gee, Heon Yung, McInerney-Leo, Aideen M., Krug, Pauline, Filhol, Emilie, Davis, Erica E., Airik, Rannar, Czarnecki, Peter G., Lehman, Anna M., Trnka, Peter, Nitschke, Patrick, Bole-Feysot, Christine, Schueler, Markus, Knebelmann, Bertrand, Burtey, Stephane, Szabo, Attila J., Tory, Kalman, Leo, Paul J., Gardiner, Brooke, McKenzie, Fiona A., Zankl, Andreas, Brown, Matthew A., Hartley, Jane L., Maher, Eamonn R., Li, Chunmei ... Hildebrandt, Friedhelm (2013). Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American Journal of Human Genetics, 93 (5), 915-925. doi: 10.1016/j.ajhg.2013.09.012

Primary amenorrhoea with hypertension: undiagnosed 17-α-hydroxylase deficiency

Britten, Fiona L., Ulett, Kimberly B., Duncan, Emma L. and Perry-Keene, Donald A. (2013). Primary amenorrhoea with hypertension: undiagnosed 17-α-hydroxylase deficiency. Medical Journal of Australia, 199 (8), 556-558. doi: 10.5694/mja12.11619

Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60

McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scrambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol and UK10K Consortium (2013). Short-rib polydactyly and Jeune Syndromes are caused by mutations in WDR60. American Journal of Human Genetics, 93 (3), 515-523. doi: 10.1016/j.ajhg.2013.06.022

A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways

Anderson, Robert P., Henry, Margaret J., Taylor, Roberta, Duncan, Emma L., Danoy, Patrick, Costa, Marylia J., Addison, Kathryn, Tye-Din, Jason A., Kotowicz, Mark A., Knight, Ross E., Pollock, Wendy, Nicholson, Geoffrey C., Toh, Ban-Hock, Brown, Matthew A. and Pasco, Julie A. (2013). A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways. BMC Medicine, 11 (1) 188, 188.1-188.13. doi: 10.1186/1741-7015-11-188

Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm

Zheng, Hou-Feng, Duncan, Emma L., Yerges-Armstrong, Laura M., Eriksson, Joel, Bergström, Ulrica, Leo, Paul J., Leslie, William D., Goltzman, David, Blangero, John, Hanley, David A., Carless, Melanie A., Streeten, Elizabeth A., Lorentzon, Mattias, Brown, Matthew A., Spector, Tim D., Pettersson-Kymmer, Ulrika, Ohlsson, Claes, Mitchell, Braxton D. and Richards, J. Brent (2013). Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm. Journal of Medical Genetics, 50 (7), 473-478. doi: 10.1136/jmedgenet-2012-101287

Vitamin D does not improve the metabolic health of patients with chronic kidney disease stage 3-4: A randomized controlled trial (vol 18, pg 26, 2013)

Petchey, William G., Hickman, Ingrid J., Prins, Johannes B., Hawley, Carmel M., Johnson, David W., Isabel, Nicole M. and Duncan, Emma L. (2013). Vitamin D does not improve the metabolic health of patients with chronic kidney disease stage 3-4: A randomized controlled trial (vol 18, pg 26, 2013). Nephrology, 18 (6), 481-481. doi: 10.1111/nep.12095

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6

Sparrow, Duncan B., McInerney-Leo, Aideen, Gucev, Zoran S., Gardiner, Brooke, Marshall, Mhairi, Leo, Paul J., Chapman, Deborah L., Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew A., Duncan, Emma L. and Dunwoodie, Sally L. (2013). Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22 (8), 1625-1631. doi: 10.1093/hmg/ddt012

Pituitary gigantism treated successfully with the growth hormone receptor antagonist, pegvisomant

Daniel, A., d' Emden, M. and Duncan, E. (2013). Pituitary gigantism treated successfully with the growth hormone receptor antagonist, pegvisomant. Internal Medicine Journal, 43 (3), 345-347. doi: 10.1111/imj.12077

Analysis of body composition in individuals with high bone mass reveals a marked increase in fat mass in women but not men

Gregson, Celia L., Paggiosi, Margaret A., Crabtree, Nicola, Steel, Sue A., McCloskey, Eugene, Duncan, Emma L., Fan, Bo, Shepherd, John A., Fraser, William D., Smith, George Davey and Tobias, Jon H. (2013). Analysis of body composition in individuals with high bone mass reveals a marked increase in fat mass in women but not men. Journal of Clinical Endocrinology and Metabolism, 98 (2), 818-828. doi: 10.1210/jc.2012-3342

Improving diagnosis of tumor-induced osteomalacia with Gallium-68 DOTATATE PET/CT

Clifton-Bligh, Roderick J., Hofman, Michael S., Duncan, Emma, Sim, Ie-Wen, Darnell, David, Clarkson, Adele, Wong, Tricia, Walsh, John P., Gill, Anthony J., Ebeling, Peter R. and Hicks, Rodney J. (2013). Improving diagnosis of tumor-induced osteomalacia with Gallium-68 DOTATATE PET/CT. Journal of Clinical Endocrinology and Metabolism, 98 (2), 687-694. doi: 10.1210/jc.2012-3642

A brilliant breakthrough in OI type V

Lazarus, S., Moffatt, P., Duncan, E. L. and Thomas, G. P. (2013). A brilliant breakthrough in OI type V. Osteoporosis international, 25 (2), 399-405. doi: 10.1007/s00198-013-2465-8

Loss of wild-type ATRX Expression in somatic cell hybrids segregates with activation of alternative lengthening of telomeres

Bower, Kylie, Napier, Christine E., Cole, Sara L., Dagg, Rebecca A., Lau, Loretta M. S., Duncan, Emma L., Moy, Elsa L. and Reddel, Roger R. (2012). Loss of wild-type ATRX Expression in somatic cell hybrids segregates with activation of alternative lengthening of telomeres. PLoS ONE, 7 (11) e50062, e50062. doi: 10.1371/journal.pone.0050062

Association of FOXE1 polyalanine repeat region with papillary thyroid cancer

Bullock, Martyn, Duncan, Emma L., O'Neill, Christine, Tacon, Lyndal, Sywak, Mark, Sidhu, Stan, Delbridge, Leigh, Learoyd, Diana, Robinson, Bruce G., Ludgate, Marian and Clifton-Bligh, Roderick J. (2012). Association of FOXE1 polyalanine repeat region with papillary thyroid cancer. Journal of Clinical Endocrinology and Metabolism, 97 (9), E1814-E1819. doi: 10.1210/jc.2012-1456

WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk

Zheng, Hou-Feng, Tobias, Jon H., Duncan, Emma, Evans, David M., Eriksson, Joel, Paternoster, Lavinia, Yerges-Armstrong, Laura M., Lehtimaki, Terho, Bergstrom, Ulrica, Kahonen, Mika, Leo, Paul J., Raitakari, Olli, Laaksonen, Marika, Nicholson, Geoffrey C., Viikari, Jorma, Ladouceur, Martin, Lyytikainen, Leo-Pekka, Medina-Gomez, Carolina, Rivadeneira, Fernando, Prince, Richard L., Sievanen, Harri, Leslie, William D., Mellstrom, Dan, Eisman, John A., Moverare-Skrtic, Sofia, Goltzman, David, Hanley, David A., Jones, Graeme, Pourcain, Beate St. ... Lorentzon, Mattias (2012). WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. Plos Genetics, 8 (7) e1002745, e1002745.1-e1002745.13. doi: 10.1371/journal.pgen.1002745

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Duncan, Emma L., Ntzani, Evangelia E., Oei, Ling, Albagha, Omar M. E., Amin, Najaf, Kemp, John P., Koller, Daniel L., Li, Guo, Liu, Ching-Ti, Minster, Ryan L., Moayyeri, Alireza, Vandenput, Liesbeth, Willner, Dana, Xiao, Su-Mei, Yerges-Armstrong, Laura M., Zheng, Hou-Feng, Alonso, Nerea, Eriksson, Joel, Kammerer, Candace M., Kaptoge, Stephen K., Leo, Paul J., Thorleifsson, Gudmar, Wilson, Scott G., Wilson, James F., Aalto, Ville ... Rivadeneira, Fernando (2012). Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics, 44 (5), 491-501. doi: 10.1038/ng.2249

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB

Andreas Zankl, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitche, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terha, Paulien and Brown, Matthew A. (2012). Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 90 (3), 494-501. doi: 10.1016/j.ajhg.2012.01.003

'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass

Gregson, C. L., Steel, S. A., O'Rourke, K. P., Allan, K., Ayuk, J., Bhalla, A., Clunie, G., Crabtree, N., Fogelman, I., Goodby, A., Langman, CM, Linton, S, Marriott, E, McCloskey, E, Moss, KE, Palferman, T, Panthakalam, S., Poole, K. E. S., Stone, MD, Turton, J., Wallis, D., Warburton, S., Wass, J., Duncan, E. L., Brown, M. A., Davey-Smith, G. and Tobias, J. H. (2012). 'Sink or swim': an evaluation of the clinical characteristics of individuals with high bone mass. Osteoporosis International, 23 (2), 643-654. doi: 10.1007/s00198-011-1603-4

Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists

Bradbury, L. A., Barlow, S., Geoghenan, F., Hannon, R. A., Stuckey, S. L., Wass, J. A. H., Russell, R. G. G., Brown, M. A. and Duncan, E. L. (2012). Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. Osteoporosis International, 23 (1), 285-294. doi: 10.1007/s00198-011-1658-2

Counting the cost: estimating the number of deaths among recently released prisoners in Australia

Duncan, Emma L. (2011). Counting the cost: estimating the number of deaths among recently released prisoners in Australia. Medical Journal of Australia, 195 (7), 383-383. doi: 10.5694/mja11.10917

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

Duncan, Emma L., Danoy, Patrick, Kemp, John P., Leo, Paul J., McCloskey, Eugene, Nicholson, Geoffrey C., Eastell, Richard, Prince, Richard L., Eisman, John A., Jones, Graeme, Sambrook, Philip N., Reid, Ian R., Dennison, Elaine M., Wark, John, Richards, J. Brent, Uitterlinden, Andre G., Spector, Tim D., Esapa, Chris, Cox, Roger D., Brown, Steve D. M., Thakker, Rajesh V., Addison, Kathryn A., Bradbury, Linda A., Center, Jacqueline R., Cooper, Cyrus, Cremin, Catherine, Estrada, Karol, Felsenberg, Dieter, Glueer, Claus-C. ... Brown, Matthew A. (2011). Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genetics, 7 (4) e1001372, e1001372.1-e1001372.10. doi: 10.1371/journal.pgen.1001372

Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia

Glazov, Evgeny A., Zankl, Andreas, Donskoi, Marina, Kenna,Tony J., Thomas, Gethin P., Clark, Graeme R., Duncan, E. L. and Brown, Matthew A. (2011). Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genetics, 7 (3) e1002027, e1002027.1-e1002027.7. doi: 10.1371/journal.pgen.1002027

Acute fluid shifts influence the assessment of serum vitamin D status in critically ill patients

Krishnan, Anand, Ochola, Judith, Mundy, Julie, Jones, Mark, Kruger, Peter, Duncan, Emma and Venkatesh, Bala (2010). Acute fluid shifts influence the assessment of serum vitamin D status in critically ill patients. Critical Care, 14 (6) R216, R216-1-R216-7. doi: 10.1186/cc9341

Marked increase in proton pump inhibitors use in Australia

Hollingworth, Samantha, Duncan, Emma L. and Martin, Jennifer H (2010). Marked increase in proton pump inhibitors use in Australia. Pharmacoepidemiology and Drug Safety, 19 (10), 1019-1024. doi: 10.1002/pds.1969

Genetic determinants of bone density and fracture risk: State of the art and future directions

Duncan, EL and Brown, MA (2010). Genetic determinants of bone density and fracture risk: State of the art and future directions. Journal of Clinical Endocrinology & Metabolism, 95 (6), 2576-2587. doi: 10.1210/jc.2009-2406

Mapping genes for osteoporosis-Old dogs and new tricks

Duncan, EL and Brown, MA (2010). Mapping genes for osteoporosis-Old dogs and new tricks. Bone, 46 (5), 1219-1225. doi: 10.1016/j.bone.2009.12.035

Secondary prevention of osteoporosis in Australia: Analysis of government-dispensed prescription data

Hollingworth, Samantha A., Gunanti, Inong, Nissen, Lisa M. and Duncan, Emma L. (2010). Secondary prevention of osteoporosis in Australia: Analysis of government-dispensed prescription data. Drugs & Aging, 27 (3), 255-264. doi: 10.2165/11318400-000000000-00000

Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

Reveille, John D., Sims, Anne-Marie, Danoy, Patrick, Evans, David M., Leo, Paul, Pointon, Jennifer J., Jin, Rui, Zhou, Xiaodong, Bradbury, Linda A., Appleton, Louise H., Davis, John C., Diekman, Laura, Doan, Tracey, Dowling, Alison, Duan, Ran, Duncan, Emma L., Farrar, Claire, Hadler, Johanna, Harvey, David, Karaderi, Tugce, Mogg, Rebecca, Pomeroy, Emma, Pryce, Karena, Taylor, Jacqueline, Savage, Laurie, Deloukas, Panos, Kumanduri, Vasudev, Peltonen, Leena, Ring, Sue M. ... Brown, Mathew A. (2010). Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Nature Genetics, 42 (2), 123-127. doi: 10.1038/ng.513

The role of 25-hydroxyvitamin D deficiency in promoting insulin resistance and inflammation in patients with Chronic Kidney Disease: a randomised controlled trial

Petchey, William, Hickman, Ingrid J., Duncan, Emma, Prins, Johannes B., Hawley, Carmel M., Johnson, David W., Barraclough, Katherine and Isbel, Nicole M. (2009). The role of 25-hydroxyvitamin D deficiency in promoting insulin resistance and inflammation in patients with Chronic Kidney Disease: a randomised controlled trial. BMC Nephrology, 10 (41) 41, x-x. doi: 10.1186/1471-2369-10-41

Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population

Davidson, Stuart, Wu, Xin, Liu, Yu, Wei, Meng, Danoy, Patrick, Thomas, Gethin, Cai, Qing, Sun, Linyun, Duncan, Emma, Wang, Niansong, Yu, Qinghong, Xu, Anlong, Fu, Yonggui, Brown, Matthew and Xu, Huji (2009). Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population. Arthritis & Rheumatism, 60 (11), 3263-3268. doi: 10.1002/art.24933

Common variants in the region around Osterix are associated with bone mineral density and growth in childhood

Timpson, Nicholas J., Tobias, Jon H., Richards, J. Brent, Soranzo, Nicole, Duncan, Emma L., Sims, Anne-Maree, Whittaker, Pamela, Kumanduri, Vasudev, Zhai, Guangju, Glaser, Beate, Eisman, John, Jones, Graeme, Nicholson, Geoff, Prince, Richard, Seeman, Ego, Spector, Tim D., Brown, Matthew A., Peltonen, Leena, Smith, George Davey, Deloukas, Panos and Evans, David M. (2009). Common variants in the region around Osterix are associated with bone mineral density and growth in childhood. Human Molecular Genetics, 18 (8), 1510-1517. doi: 10.1093/hmg/ddp052

Genetic studies in osteoporosis - the end of the beginning

Duncan, Emma L. and Brown, Matthew A. (2008). Genetic studies in osteoporosis - the end of the beginning. Arthritis Research and Therapy, 10 (5) 214, 214.1-214.8. doi: 10.1186/ar2479

Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: The GENOMOS study

Langdahl, Bente L., Uitterlinden, André G., Ralston, Stuart H., Trikalinos, Thomas A., Balcells, Susanne, Brandi, Maria Luisa, Scollen, Serena, Lips, Paul, Lorenc, Roman, Obermayer-Pietsch, Barbara, Reid, David M., Armas, Jácome Bruges, Arp, Pascal P., Bassiti, Amelia, Bustamante, Mariona, Husted, Lise Bjerre, Carey, Alison H., Cano, Ramon Pérez, Dobnig, Harald, Dunning, Alison M., Fahrleitner-Pammer, Astrid, Falchetti, Alberto, Karczmarewicz, Elzbieta, Kruk, Marcin, van Leeuwen, Johannes P. T. M., Masi, Laura, van Meurs, Joyce B. J., Mangion, Jon, McGuigan, Fiona E .A. ... Rotterdam Group (ERGO) Investigators (2008). Large-scale analysis of association between polymorphisms in the transforming growth factor beta 1 gene (TGFB1) and osteoporosis: The GENOMOS study. Bone, 42 (5), 969-981. doi: 10.1016/j.bone.2007.11.007

How to treat: Calcium and phosphate disorders - Part 2

Duncan, Emma (2008). How to treat: Calcium and phosphate disorders - Part 2. Australian Doctor, 25-32.

How to treat: Calcium and phosphate disorders - Part 1

Duncan, Emma (2008). How to treat: Calcium and phosphate disorders - Part 1. Australian Doctor, 25-32.

Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis

van Meurs, J. B., Trikalinos, T. A., Ralston, S. H., Duncan, E. L. and et al. (2008). Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. Jama, 299 (11), 1277-1290. doi: 10.1001/jama.299.11.1277

Genetic analyses in a sample of individuals with high or low BMD shows association with multiple wnt pathway genes

Sims, Anne-Marie, Shephard, Neil, Carter, Kim, Doan, Tracy, Dowling, Alison, Duncan, Emma L., Eisman, John, Jones, Graeme, Nicholson, Geoffrey, Prince, Richard, Seeman, Ego, Thomas, Gethin, Wass, John A. and Brown, Matthew A. (2008). Genetic analyses in a sample of individuals with high or low BMD shows association with multiple wnt pathway genes. Journal of Bone and Mineral Research, 23 (4), 499-505. doi: 10.1359/JBMR.071113

Towards genomewide association studies in osteoporosis: Lessons from early scans

Brown, Matthew A. and Duncan, Emma L. (2007). Towards genomewide association studies in osteoporosis: Lessons from early scans. BoneKey, 4 (12), 363-366.

PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton

Vilarino-Guell, Carles, Miles, Lisa J., Duncan, Emma L., Ralston, Stuart H., Compston, Juliet E., Cooper, Cyrus, Langdahl, Bente L., MacLelland, Alasdair, Pols, Huibert A., Reid, David M., Uitterlinden, Andre G., Steer, Colin D., Tobias, Jon H., Wass, John A. and Brown, Matthew A. (2007). PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton. Calcified Tissue International, 81 (4), 270-278. doi: 10.1007/s00223-007-9072-7

Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass

Ioannidis, John P. A., Ng, Mandy Y., Sham, Pak C., Zintzaras, Elias, Lewis, Cathryn M., Deng, Hong-Wen, Econs, Michael J., Karasik, David, Devoto, Marcella, Kammerer, Candace M., Spector, Tim, Andrew, Toby, Cupples, L. Adrienne, Duncan, Emma L,, Foroud, Tatiana, Kiel, Douglas P., Koller, Daniel, Langdahl, Bente, Mitchell, Braxton D., Peacock, Munro, Recker, Robert, Shen, Hui, Sol-Church, Katia, Spotila, Loretta D., Uitterlinden, Andre G., Wilson, Scott G., Kung, Annie W. C. and Ralston, Stuart H. (2007). Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass. Journal of bone and mineral research, 22 (2), 173-183. doi: 10.1359/JBMR.060806

The Association between Common Vitamin D Receptor Gene Variations and Osteoporosis: A Participant-Level Meta-Analysis

Uitterlinden, André G., Ralston, Stuart H., Brandi, Maria Luisa, Carey, Alisoun H., Grinberg, Daniel, Langdahl, Bente L., Lips, Paul, Lorenc, Roman, Obermayer-Pietsch, Barbara, Reeve, Jonathan, Reid, David M., Amedei, Antonietta, Bassiti, Amelia, Bustamante, Mariona, Husted, Lise Bjerre, Diez-Perez, Adolfo, Dobnig, Harald, Dunning, Alison, Enjuanes, Anna, Fahrleitner-Pammer, Astrid, Fang, Yue, Karczmarewicz, Elzbieta, Kruk, Marcin, van Leeuwen, Johannes P.T.M., Mavilia, Carmelo, van Meurs, Joyce B. J., Mangion, Jon, McGuigan, Fiona E. A., Pols, Huibert A. P. ... Rotterdam Study Investigators (2006). The Association between Common Vitamin D Receptor Gene Variations and Osteoporosis: A Participant-Level Meta-Analysis. Annals of Internal Medicine, 145 (4), 255-264. doi: 10.7326/0003-4819-145-4-200608150-00005

Ergotamine use in severe diabetic autonomic neuropathy

Toh, V., Duncan, E., Lewis, N., Fichter, L. and Matthews, D. R. (2006). Ergotamine use in severe diabetic autonomic neuropathy. Diabetic Medicine, 23 (5), 574-576. doi: 10.1111/j.1464-5491.2006.01844.x

Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: The GENOMOS study

Ralston, Stuart H., Uitterlinden, André G., Brandi, Maria Luisa, Balcells, Susana, Langdahl, Bente L., Lips, Paul, Lorenc, Roman, Obermayer-Pietsch, Barbara, Scollen, Serena, Bustamante, Mariona, Husted, Lise Bjerre, Carey, Alisoun H., Diez-Perez, Adolfo, Dunning, Alison M., Falchetti, Alberto, Karczmarewicz, Elzbieta, Kruk, Marcin, van Leeuwen, Johannes P.T.M., van Meurs, Joyce B. J., Mangion, Jon, McGuigan, Fiona E. A., Mellibovsky, Leonardo, del Monte, Francesca, Pols, Huibert A. P., Reeve, Jonathan, Reid, David M., Renner, Wilfried, Rivadeneira, Fernando, van Schoor, Natasja M. ... Duncan, Emma (2006). Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: The GENOMOS study. PLoS Medicine, 3 (4), 0515-0523. doi: 10.1371/journal.pmed.0030090

Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis

Reid, D. M., Mackay, I., Wilkinson, S., Miller, C., Schuette, D. G., Compston, J., Cooper, C., Duncan, E., Galwey, N., Keen, R., Langdahl, B., McLellan, A., Pols, H., Uitterlinden, A., O'Riordan, J., Wass, J. A. H., Ralston, S. H. and Bennett, S. T. (2006). Cross-calibration of dual-energy X-ray densitometers for a large, multi-center genetic study of osteoporosis. Osteoporosis International, 17 (1), 125-132. doi: 10.1007/s00198-005-1936-y

Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study

Ralston, S. H., Galwey, N., MacKay, I., Albagha, O. M. E., Cardon, L., Compston, J. E., Cooper, C., Duncan, E., Keen, R., Langdahl, B., McLellan, A., O'Riordan, J., Pols, H. A., Reid, D. M., Uitterlinden, A. G., Wass, J. and Bennett, S. T. (2005). Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study. Human Molecular Genetics, 14 (7), 943-951. doi: 10.1093/hmg/ddi088

Influence of LRP5 polymorphisms on normal variation in BMD

Koay, M. Audrey, Woon, Peng Y., Zhang, Yun, Miles, Lisa J., Duncan, Emma L., Ralston, Stuart H., Compston, Juliet E., Cooper, Cyrus, Keen, Richard, Langdahl, Bente L., MacLelland, Alasdair, O'Riordan, Jeffrey, Pols, Huibert A., Reid, David M., Uitterlinden, Andre G., Wass, John A.H. and Brown, Matthew A. (2004). Influence of LRP5 polymorphisms on normal variation in BMD. Journal of Bone And Mineral Research, 19 (10), 1619-1627. doi: 10.1359/JBMR.040704

Influence of LRP5 gene polymorphisms on the normal variation of bone mineral density

Koay, MA, Duncan, EL, Ralston, SH, Compston, JE, Cooper, C, Keen, R, Langdahl, BL, MacLelland, A, O'Riordan, J, Pols, HA, Reid, DM, Uitterlinden, AG, Wass, AH and Brown, MA (2004). Influence of LRP5 gene polymorphisms on the normal variation of bone mineral density. Journal of Bone And Mineral Research, 19 (10), 1619-1627. doi: 10.1359/JBMR.040704

Polymorphisms within the osteoprotegerin (OPG) gene are associated with both serum OPG levels and bone mineral density.

Miles, LJ, Beynon, O, Woon, PY, Blumsohn, A, Duncan, EL and Brown, MA (2004). Polymorphisms within the osteoprotegerin (OPG) gene are associated with both serum OPG levels and bone mineral density.. Journal of Bone And Mineral Research, 19, S129-S129.

Site and gender specificity of inheritance of bone mineral density

Duncan, Emma L., Cardon, Lon R., Sinsheimer, Janet S., Wass, John Ah and Brown, Matthew A. (2003). Site and gender specificity of inheritance of bone mineral density. Journal of Bone And Mineral Research, 18 (8), 1531-1538. doi: 10.1359/jbmr.2003.18.8.1531

COL1A1 sp1 promoter polymorphism influences serum n-terminal COL1A1 propeptide (P1NP) levels.

Miles, LJ, Colley, J, Blumsohn, A, Eastell, R, Duncan, EL, Olavesen, M, Wass, JAH and Brown, MA (2003). COL1A1 sp1 promoter polymorphism influences serum n-terminal COL1A1 propeptide (P1NP) levels.. Journal of Bone And Mineral Research, 18, S211-S211.

Heritability and familial correlations of the bone synthesis marker, serum N-terminal COL1A1, propeptide (P1NP).

Miles, LJ, Blumsohn, A, Eastell, R, Duncan, EL, Wass, JAH and Brown, MA (2003). Heritability and familial correlations of the bone synthesis marker, serum N-terminal COL1A1, propeptide (P1NP).. Journal of Bone And Mineral Research, 18, S124-S124.

Linkage studies of RANK, RANKL and OPG in the control of bone mineral density.

Miles, LJ, Duncan, EL, Crane, AM, Wass, JAH and Brown, MA (2002). Linkage studies of RANK, RANKL and OPG in the control of bone mineral density.. Journal of Bone And Mineral Research, 17, S322-S322.

Bone mineral density in adults with Marfan syndrome

Carter, N, Duncan, E and Wordsworth, P (2000). Bone mineral density in adults with Marfan syndrome. Rheumatology, 39 (3), 307-309. doi: 10.1093/rheumatology/39.3.307

Suggestive linkage of the parathyroid receptor type 1 to osteoporosis

Duncan, EL, Brown, MA, Sinsheimer, J, Bell, J, Carr, AJ, Wordsworth, BP and Wass, JAH (1999). Suggestive linkage of the parathyroid receptor type 1 to osteoporosis. Journal of Bone And Mineral Research, 14 (12), 1993-1999. doi: 10.1359/jbmr.1999.14.12.1993

Cloning and characterization of a novel gene, striamin, that interacts with the tumor suppressor protein p53

Wadhwa R., Sugihara T., Yoshida A., Duncan E.L., Hardeman E.C., Nomura H., Reddel R.R. and Kaul S.C. (1999). Cloning and characterization of a novel gene, striamin, that interacts with the tumor suppressor protein p53. Journal of Biological Chemistry, 274 (21), 14948-14955. doi: 10.1074/jbc.274.21.14948

Downregulation of metallothionein-IIA expression occurs at immortalization

Duncan E.L. and Reddel R.R. (1999). Downregulation of metallothionein-IIA expression occurs at immortalization. Oncogene, 18 (4), 897-903. doi: 10.1038/sj.onc.1202370

Investigation protocol: Acromegaly and its investigation

Duncan E. and Wass J.A.H. (1999). Investigation protocol: Acromegaly and its investigation. Clinical Endocrinology, 50 (3), 285-293. doi: 10.1046/j.1365-2265.1999.00615.x

Susceptibility to ankylosing spondylitis in twins - The role of genes, HLA, and the environment

Brown, MA, Kennedy, LG, MacGregor, AJ, Darke, C, Duncan, E, Shatford, JL, Taylor, A, Calin, A and Wordsworth, P (1997). Susceptibility to ankylosing spondylitis in twins - The role of genes, HLA, and the environment. Arthritis and Rheumatism, 40 (10), 1823-1828. doi: 10.1002/art.1780401015

Exomewide association study of ankylosing spondylitis identifies additional coding region genetic associations with as and strengthens evidence of shared genetic background with inflammatory bowel disease

Robinson, P., Leo, P., Pointon, J., Harris, J., Cremin, K., Bradbury, L., Stebbings, S., Harrison, A., Duncan, E., Wordsworth, P. and Brown, M. (2015). Exomewide association study of ankylosing spondylitis identifies additional coding region genetic associations with as and strengthens evidence of shared genetic background with inflammatory bowel disease. Australian Rheumatology Associationin conjunction with Rheumatology Health Professionals Association, 56th Annual Scientific Meeting, Adelaide, South Australia, Australia, 23–26 May 2015. Richmond, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/imj.12752

Prevalence of Maturity Onset Diabetes of the Young in a Western Australia paediatric diabetes clinic using targeted Massively Parallel Sequencing

Johnson, Stephanie R., Davis, Elizabeth, Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2015). Prevalence of Maturity Onset Diabetes of the Young in a Western Australia paediatric diabetes clinic using targeted Massively Parallel Sequencing. Children's Health Queensland Research Conference, Brisbane Qld Australia, December 2015.

Prevalence of Maturity Onset Diabetes of the young in a Western Australian paediatric diabetes clinic using targeted Massively Parallel Sequencing

Johnson, Stephanie R., Davis, Elizabeth, Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2015). Prevalence of Maturity Onset Diabetes of the young in a Western Australian paediatric diabetes clinic using targeted Massively Parallel Sequencing. International Society of Paediatric and Adolescent Diabetes / Australasian Paediatric Endocrine Group Annual Scientific Meeting, Brisbane, Queensland, Australia: University of Queensland, October 2015.

Next generation sequencing for maturity onset diabetes of the young

Johnson, Stephanie R., Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2014). Next generation sequencing for maturity onset diabetes of the young. ISPAD 2014: 40th Annual Meeting of the International Society of Pediatric and Adolescent Diabetes, Toronto, ON, Canada, 3-6 September, 2014. Berlin, Germany: K.I.T. Group.

Next generation sequencing for maturity onset diabetes of the young

Johnson, Stephanie R., Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2014). Next generation sequencing for maturity onset diabetes of the young. APPES & APEG 2014: Asia Pacific Paediatric Endocrine Society & Australasian Paediatric Endocrine Group Joint Annual Scientific Meeting, Darwin, NT, Australia, 29 October-1 November, 2014.

Next generation sequencing to identify a novel INS gene mutation in a family with Maturity Onset Diabetes of the Young (MODY)

Johnson, Stephanie R., McGown, Ivan N., Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2014). Next generation sequencing to identify a novel INS gene mutation in a family with Maturity Onset Diabetes of the Young (MODY). APPES & APEG 2014: Asia Pacific Paediatric Endocrine Society & Australasian Paediatric Endocrine Group Joint Annual Scientific Meeting, Darwin, NT, Australia, 29 October-1 November, 2014.

Hepatic osteodystrophy in chronic liver disease

Gonsalkorala, E. S., Tallis, C., Stuart, K. A. and Duncan, E. (2013). Hepatic osteodystrophy in chronic liver disease. Australian Gastroenterology Week 2013, Melbourne, Australia, 7-9 October 2013. Richmond, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/jgh.12365_5

Next-generation sequencing (NGS) to identify a novel INS gene mutation in a family with maturity onset diabetes of the young (MODY)

Johnson, Stephanie R., McGown, Ivan N., Conwell, Louise S., Harris, Mark and Duncan, Emma L. (2013). Next-generation sequencing (NGS) to identify a novel INS gene mutation in a family with maturity onset diabetes of the young (MODY). LWPES/ESPE 9th Joint Meeting Global Care in Pediatric Endocrinology in collaboration with APEG, APPES, JSPE and SLEP, Milan, Italy, 19-22 September, 2013. Basel, Switzerland: S. Karger. doi: 10.1159/isbn.978-3-318-02505-7

Multi-stage genome-wide association meta-analyses identified gender-specific loci associated with bone mineral density

Zhang, Lei, Li, Jian, Pei, Yu-Fang, Lin, Yong, Shen, Hui, Estrada, Karol, Rivadeneira, Fernando, Guitterlinden, Andre, Shin, Chan Soo, Choi, Hyung Jin, Duncan, Emma L., Leo, Paul J., Brown, Matthew A., Liu, Yao-Zhong, Liu, Yongjun, Zhang, Ji-Gang, Tian, Qing, Wang, Yu-Ping, Zhu, Xue-Zhen, Wu, Shuyan, Papasian, Christopher J. and Deng, Hong-Wen (2012). Multi-stage genome-wide association meta-analyses identified gender-specific loci associated with bone mineral density. Ninth Annual NIH Interdisciplinary Women’s Health Research Symposium, Bethesda, MD, United States, 15 November 2012. New Rochelle, NY, United States: Mary Ann Liebert. doi: 10.1089/jwh.2012.ab02

Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis

McInerney-Leo, A., Zankl, A., Duncan, E., Clark, G., Leo, P., Glasov, E. and Brown, M. (2012). Next generation sequencing identifies mutations clustering in the amino-terminal transcriptional activation domain of Mafb in multicentric carpotarsal osteolysis. Australian Rheumatology Association in conjunction with Rheumatology Health Professionals 53rd Annual Scientific Meeting, Canberra, Australia, 12-15 May 2012. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/j.1445-5994.2012.02759.x

The 7Q31 locus, containing WNT16, is associated with bone mineral density, osteoporotic fracture and bone strength

Zheng, H.-F., Duncan, E., Eriksson, J., Bergstrom, U., Yerges-Armstrong, L., Leo, P., Vandenput, L., Nicholson, G., Ladouceur, M., Prince, R., Leslie, W., Eisman, J., Goltzman, D., Jones, G., Xiao, Y., Liu, J., Reid, I., Sambrook, P., Dennison, E., Danoy, P., Wilson, S., McCloskey, E., Eastell, R., Spector, T., Mitchell, B., Streeten, E., Brommage, R., Lorentzon, M., Pettersson, U. ... GEnetic Factors OSteoporosis (2012). The 7Q31 locus, containing WNT16, is associated with bone mineral density, osteoporotic fracture and bone strength. 39th Annual Congress of the European-Calcified-Tissue-Society (ECTS), Stockholm, Sweden, 19-23 May 2012. Philadelphia, PA, United States: Elsevier. doi: 10.1016/j.bone.2012.02.086

Wnt16 Is associated with bone mineral density, osteoporotic fracture and bone strength: a Large-Scale Meta-Analysis of Genomewide Association Studies

Zheng, Hou-Feng, Duncan, Emma, Eriksson, Joel, Bergstrom, Ulrica, Yerges-Armstrong, Laura M., Leo, Paul J., Vandenput, Liesbeth, Nicholson, Geoffrey, Ladouceur, Martin, Prince, Richard L., Leslie, William D., Eisman, John A., Goltzman, David, Jones, Graeme, Xiao, Yongjun, Liu, Jeff, Reid, Lanr, Sambrook, Philip N., Dennison, Elaine M., Danoy, Patrick, Wilson, Scott G., McCloskey, Eugene, Eastell, Richard, Spector, Tim, Mitchell, Braxton D., Streeten, Elizabeth A., Brommage, Robert, Lorentzon, Mattias, Pettersson, Ulrika ... Richards, J. Brent (2012). Wnt16 Is associated with bone mineral density, osteoporotic fracture and bone strength: a Large-Scale Meta-Analysis of Genomewide Association Studies. IOF-ECCEO European Congress on Osteoporosis and Osteoarthritis / 2nd IOF-ESCEO Pre-Clinical Symposium, Bordeaux France, 21-24 March 2012. London, United Kingdom: Springer U K. doi: 10.1007/s00198-012-1924-y

A Population Study to Optimize the Role of Serology and Genetics in the Diagnosis of Celiac Disease (CD)

Costa, M, Henry, M, Taylor, R, Duncan, E, Kotowicz, M, Pasco, JA, Tye-Din, JA, Pollock, W, Toh, BH, Brown, MA, Nicholson, GC and Anderson, RP (2011). A Population Study to Optimize the Role of Serology and Genetics in the Diagnosis of Celiac Disease (CD). Conference on Digestive Disease Week 2011, Chicago Il, May 07-10, 2011. PHILADELPHIA: W B SAUNDERS CO-ELSEVIER INC.

Association analyses of 47,500 individuals identifies six fracture loci and 82 BMD loci clustering in biological pathways that regulate osteoblast and osteoclast activity

Estrada, K, Evangelou, E, Hsu, YH, Styrkarsdottir, U, Liu, CT, Moayyeri, A, Kaptoge, S, Duncan, E, Amin, N, Kiel, D, Karasik, D, Albagha, OM, Brown, M, Spector, TD, Zillikens, MC, Ohlsson, C, Thorleifsson, G, Reeve, J, Vandenput, L, Pettersson, U, O'Neill, T, Riancho, JA, Ijunggren, O, Rousseau, F, Leslie, WD, Obermayer-Pietsch, B, Alonso, N, Langdahl, B, Nogues, X ... GENOMOS Consortia (2011). Association analyses of 47,500 individuals identifies six fracture loci and 82 BMD loci clustering in biological pathways that regulate osteoblast and osteoclast activity. 3rd Joint Meeting of the European-Calcified-Tissue-Society/International-Bone-and-Mineral-Society, Athens Greece, May 07-11, 2011. NEW YORK: ELSEVIER SCIENCE INC. doi: 10.1016/j.bone.2011.03.070

Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era

McInerney-Leo, A., Glasov, E., Duncan, E. and Zankl, A. (2011). Complete Exome Sequencing for Marfan Syndrome, Osteogenesis Imperfecta and Stickler Syndrome: a New Era. Rheumatology Health Professionals Association 52nd Annual Scientific Meeting, Brisbane, Queensland, 14-17 May 2011. Richmond, VIC, Australia: Wiley-Blackwell. doi: 10.1111/j.1445-5994.2010.02467.x

Prevalence and diagnosis of coeliac disease in an age-stratified random sample of Australian adults

Anderson, R. P., Henry, M., Taylor, R., Costa, M., Danoy, P., Varney, M., Tye-Din, J., Pasco, J, Pollock, W., Toh, B. H., Kotowicz, Duncan, E., Brown, M., Binder, W. and Nicolson, G. (2010). Prevalence and diagnosis of coeliac disease in an age-stratified random sample of Australian adults. Australian Gastroenterology Week 2010, Gold Coast, QLD, Australia, 20-23 October 2010. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/j.1440-1746.2010.06451.x

Mutations in LRP5 and SOST are a rare cause of high bone mass in the general population

Duncan, E. L., Gregson, C. L., Addison, K., Brugmans, M., Pointon, J. J., Appleton, L. H., Tobias, J. H. and Brown, M. A. (2009). Mutations in LRP5 and SOST are a rare cause of high bone mass in the general population. 36th European Symposium on Calcified Tissues, Vienna, Austria, May 23-27, 2009. New York, United States: Elsevier. doi: 10.1016/j.bone.2009.03.142

Prevalence and Risk Factors for Vitamin D Deficiency in Patients with Chronic Kidney Disease in a Subtropical Climate

Siva, B., Duncan, E., Hawley, C. and Isbel, N. (2008). Prevalence and Risk Factors for Vitamin D Deficiency in Patients with Chronic Kidney Disease in a Subtropical Climate. HOBOKEN: WILEY-BLACKWELL.

Genome-wide association study identifies klotho and other novel loci as contributors to BMD variation in postmenopausal women

Duncan, E. L., Rivadeneira, F., Sims, A., Dowling, A., Doan, T., Arp, P. P., Jhamai, M., Moorhouse, M., Evans, D., Eisman, J., Jones, G., Nicholson, G., Prince, R., Seeman, E., Wass, J. A. H., Hofman, A., Pols, H. A., Brown, M. A. and Uitterlinden, A. G. (2008). Genome-wide association study identifies klotho and other novel loci as contributors to BMD variation in postmenopausal women. 35th European Symposium on Calcified Tissues, Barcelona, Spain, 24-28 May 2008. New York, United States: Springer.

Phased genome-wide association study identifies new gene affecting bone mineral density

Duncan, E. L., Addison, K., Brugmans, M., Irwin, D., Evans, D., Eisman, J., Jones, G., Nicholson, G., Prince, R., Seeman, E., Uitterlinden, A., Wark, J., Ralston, S. and Brown, M. A. (2008). Phased genome-wide association study identifies new gene affecting bone mineral density. American Society for Bone and Mineral Research (ASBMR) 30th Annual Meeting, Montreal,Canada, 12 - 16 September 2008. Malden, MA, United States: Wiley-Blackwell. doi: 10.1002/jbmr.5650231306

A Phase 1 Genomewide Association Study in Osteoporosis

Sims, A. M., Duncan, E. L., Dowling, A., Doan, T., Evans, D., Eisman, J., Jones, G., Nicholson, G., Prince, R., Seeman, E., Wass, J. and Brown, M. A. (2007). A Phase 1 Genomewide Association Study in Osteoporosis. GeneMappers 2007 Conference, Brisbane, Queensland, Australia, 29-31 August 2007.

A phase 1 Genome-wide association study in Ostoeporosis

Sims, A. M., Duncan, E. L., Dowling, A., Doan, T., Evans, D., Eisman, J., Jones, G., Nicholson, G., Prince, R., Seeman, E., Wass, J. and Brown, M. A. (2007). A phase 1 Genome-wide association study in Ostoeporosis. 17th Annual Meeting of the Australian & New Zealand Bone & Mineral Society, Queenstown, New Zealand,, 9-12 September, 2007.

Do mutations in SH3BP2 cause giant cell tumours?

Addison, K., Gardiner, E., Athanasou, N., Brown, M. and Duncan, E. (2007). Do mutations in SH3BP2 cause giant cell tumours?. ANZBMS 2007: Annual Scientific Meeting of the Australian & New Zealand Bone & Mineral Society, Queenstown, New Zealand, 9-12 September, 2007. Australian & New Zealand Bone & Mineral Society.

Osteoporosis: Use of Bsiphosphonates in Australia

Hollingworth, Samantha, Nissen, Lisa, Duncan, Emma and Gunanti, Inong (2007). Osteoporosis: Use of Bsiphosphonates in Australia. 23rd International Conference on Pharmacoepidemiology and Therapeutic Risk Management, Quebec City, Canada, 19-22 August 2007. UK: Bell and Bain Ltd.. doi: 10.1002/pds.1461

Osteoporosis: Use of bisphosphonates in Australia

Hollingworth, S., Nissen, L., Duncan, E. and Gunanti, I. (2007). Osteoporosis: Use of bisphosphonates in Australia. Australian and New Zealand Society of Bone and Mineral Research Annual Scientific Meeting, Queenstown, New Zealand, 9-12 September 2007.

Osteoporosis: Use of bisphosphonates in the Australian population

Hollingworth, S., Nissen, L., Duncan, E. and Gunantil, I. (2007). Osteoporosis: Use of bisphosphonates in the Australian population. 17th Australian and New Zealand Society of Bone and Mineral Research Annual Scientific Meeting, Queenstown, New Zealand, 9-12 September 2007.

The ROSI Study (Risedronate in Adults with Osteogenesis Imperfecta Type 1): Improved BMD but high fracture rate persists

Barlow, S., Bradbury, L. A., Brown, M. A., Duncan, E. L., Geoghanen, F., Russell, R. G. G., Schofield, P. and Wass, J. A. H. (2006). The ROSI Study (Risedronate in Adults with Osteogenesis Imperfecta Type 1): Improved BMD but high fracture rate persists. 28th Annual Meeting of the American Society for Bone and Mineral Research, Philadelphia, USA, 15-19 September 2006.

The ROSI Study (Risedronate in adults with osteogenesis imperfecta type 1): Improved BMD but high fracture rate persists

Barlow, S., Bradbury, L. A., Brown, M. A., Duncan, E. L., Geoghanen, F., Russell, R. G. G., Schofield, P. and Wass, J. A. H. (2006). The ROSI Study (Risedronate in adults with osteogenesis imperfecta type 1): Improved BMD but high fracture rate persists. Combined Meeting of the 3rd IOF Asia-Pacific Regional Conference on Osteoporosis and the 16th Annual Meeting of the ANZ Bone & Mineral Society, Port Douglas, Australia, 22 - 26 October 2006. Port Douglas, Australia: ANZBMS.

PTHR1 polymorphisms and their role in variation in bone mineral density

Vilarino-Guell, C, Woon, PY, Miles, LJ, Duncan, EL, Consortium, F, Wass, JA and Brown, MA (2005). PTHR1 polymorphisms and their role in variation in bone mineral density. 2nd Joint Meeting of the European-Calcified-Tissue-Society/International-Bone-and-Mineral-Society, Geneva Switzerland, Jun 25-29, 2005. NEW YORK: ELSEVIER SCIENCE INC.

PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton

Vilarino-Guell, C, Woon, PY, Miles, LJ, Duncan, EL, Steer, CD, Tobias, JH, Wass, JA, Brown, MA, FAMOS Consortium and ALSPAC Study (2005). PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton. ASBMR 27th Annual Meeting, Nashville, TN, U.S.A., 23-27 September 2005. Malden, MA, U.S.A.: Wiley-Blackwell Publishing. doi: 10.1002/jbmr.5650201306

The ROSI study (Risedronate in Adults with Osteogenesis Imperfecta type 1)

Barlow, S., Blumsohn, A., Bradbury, L. A., Brown, M. A., Duncan, E. L., Geoghenan, F., Russell, R. G., Schofield, P. and Wass, J. A. (2005). The ROSI study (Risedronate in Adults with Osteogenesis Imperfecta type 1). 2nd Joint Meeting of the European Calcified Tissue Society/International Bone and Mineral Society, Geneva, Switzerland, 25 - 29 June 2005. Oxford, U.K: Elsevier. doi: 10.1016/j.bone.2005.04.001

Lrp5 Polymorphisms Are Linked and Associated with Bone Mineral Density

Koay, A. M., Woon, P. Y., Miles, L. J., Duncan, E. L., Zhang, Y., Wass, J. A. H. and Brown, M. A. (2004). Lrp5 Polymorphisms Are Linked and Associated with Bone Mineral Density. OXFORD: OXFORD UNIV PRESS.

Ldl-Receptor Related Protein 5 Gene Polymorphisms Influence the Normal Variation of Bone Mineral Density

Koay, A. M., Duncan, E. L., Ralston, S. H., Compston, J. E., Cooper, C., Keen, R., Langdahl, B. L., MacLelland, A., O'Riordan, J., Pols, H. A., Reid, D. M., Uitterlinden, A. G., Wass, J. A. H. and Brown, M. A. (2004). Ldl-Receptor Related Protein 5 Gene Polymorphisms Influence the Normal Variation of Bone Mineral Density. Annual Meeting of the Bone-and-Tooth-Society, Oxford England, Jun 29-30, 2004. NEW YORK: AMER SOC BONE & MINERAL RES.

Lessons from segregation analysis for the ascertainment of families for mapping of osteoporosis genes.

Duncan, EL, Cardon, LR, Wass, JAH and Brown, MA (2002). Lessons from segregation analysis for the ascertainment of families for mapping of osteoporosis genes.. 24th Annual Meeting of the American-Society-for-Bone-and-Mineral-Research, San Antonio Texas, Sep 20-24, 2002. WASHINGTON: AMER SOC BONE & MINERAL RES.

Polymorphisms in the 11beta-hydroxysteroid dehydrogenase type 1 gene associate with low bone mineral density: A role for autocrine glucocorticoid metabolism in bone physiology

Cooper, MS, Draper, N, Duncan, EL, Wass, JAH, Shepperd, MC, Hewison, M and Stewart, PM (2001). Polymorphisms in the 11beta-hydroxysteroid dehydrogenase type 1 gene associate with low bone mineral density: A role for autocrine glucocorticoid metabolism in bone physiology. WASHINGTON: AMER SOC BONE & MINERAL RES.

Linkage mapping and mutations screening of the PTHR1 locus in osteoporosis.

Duncan, EL, Lonie, L, Wass, JAH and Brown, MA (2000). Linkage mapping and mutations screening of the PTHR1 locus in osteoporosis.. WASHINGTON: AMER SOC BONE & MINERAL RES.

Linkage studies implicate OPGL/TRANCE but not OPG or RANK in the control of bone density.

Duncan, EL, Wass, JAH and Brown, MA (2000). Linkage studies implicate OPGL/TRANCE but not OPG or RANK in the control of bone density.. 24th Annual Meeting of the American-Society-for-Bone-and-Mineral-Research, San Antonio Texas, Sep 20-24, 2002. WASHINGTON: AMER SOC BONE & MINERAL RES.

Site and gender specificity of the genetic control of bone density.

Duncan, EL, Cardon, L, Wass, JAH and Brown, MA (2000). Site and gender specificity of the genetic control of bone density.. WASHINGTON: AMER SOC BONE & MINERAL RES.

Osteoporosis in Marfan's syndrome

Carter, N, Duncan, E and Wordsworth, P (1998). Osteoporosis in Marfan's syndrome. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS.

Designing a linkage study for a quantitative trait.

Sinsheimer, JS, Weeks, DE, Duncan, EL and Lathrop, GM (1997). Designing a linkage study for a quantitative trait.. CHICAGO: UNIV CHICAGO PRESS.