Professor Emma Duncan

Academic Title-Professor

Royal Brisbane Clinical Unit
Faculty of Medicine

Overview

Qualifications

  • Doctor of Philosophy
  • Fellow of the Royal College of Physicians
  • Bachelor of Medicine & Bachelor of Surgery

Publications

  • 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

  • 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

View all Publications

Publications

Book Chapter

  • Kiel, Douglas P., Duncan, Emma L. and Rivadeneira, Fernando (2018). 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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), 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. 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

  • Doctor Philosophy — Associate Advisor

  • Doctor Philosophy — Associate Advisor

    Other advisors:

  • Master Philosophy — Associate Advisor

  • Doctor Philosophy — Associate Advisor

Completed Supervision