Professor Emma Duncan

ATH - Professor

Royal Brisbane Clinical Unit
Faculty of Medicine

Overview

Qualifications

  • Royal Australasian College of Physicians, Royal Australasian College of Physicians
  • Doctor of Philosophy
  • Bachelor of Medicine and Surgery and Medical Science

Publications

  • 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

  • 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

  • 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

View all Publications

Publications

Book Chapter

  • 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

  • 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

Journal Article

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

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

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

  • 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

  • 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

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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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.

  • 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

  • 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.

  • 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.

  • 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.

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

Conference Publication

Grants (Administered at UQ)

PhD and MPhil Supervision

Current Supervision

  • Master Philosophy — Associate Advisor

  • Doctor Philosophy — Associate Advisor

    Other advisors:

  • Doctor Philosophy — Associate Advisor

Completed Supervision