Browse By Person: Duncan, Emma

Hassan, Neelam, Gregson, Celia L., Tang, Haotian, van der Kamp, Marc, Leo, Paul, McInerney-Leo, Aideen M., Zheng, Jie, Brandi, Maria Luisa, Tang, Jonathan C.Y., Fraser, William, Stone, Michael D., Grundberg, Elin, Brown, Matthew A., Duncan, Emma L., Tobias, Jonathan H., & other, and (2023) Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism. Journal of Bone and Mineral Research, 38(5), pp. 678-691.

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, & Dunwoodie, Sally L. (2022) Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors. Differentiation, 128, pp. 1-12.

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Chang, Anne, Morgan, Lucy, Duncan, Emma, Chatfield, Mark D., Schultz, Andre, Leo, Paul, McCallum, Gabrielle Britt, McInerney-Leo, Aideen M., McPhail, Steven, Zhao, Yuejen, Kruljac, Catherine, Smith-Vaughan, Heidi C., Morris, Peter Stanley, Marchant, Julie, Yerkovich, Stephanie, Cook, Anne, Wurzel, Danielle F., Versteegh, Lesley, O'Farrell, Hannah, McElrea, Margaret, Fletcher, Sabine, D'Antoine, Heather, Stroil-Salama, Enna, Robinson, Phil, & 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, 2x2 partial factorial, randomised controlled trial. BMJ Open Respiratory Research, 9(1), Article number: e001236.

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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 K., 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, & 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), pp. 2393-2401.

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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, Phan, Tri Giang, Eisman, John A., Evans, David M., Zeggini, Eleftheria, Baldock, Paul A., Bassett, J. H.Duncan, Williams, Graham R., & Croucher, Peter I. (2021) Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease. Nature Communications, 12(1), Article number: 2444.

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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., & 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), Article number: e138057.

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Ryder, Simon, Robusto, Jed, Robertson, Thomas, Alexander, Hamish, & Duncan, Emma L. (2021) Unilateral hydrocephalus from a gangliocytoma-somatotrophinoma: First reported case. Endocrinology, Diabetes and Metabolism Case Reports, 2021(1), Article number: 21-0037.

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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., & Duncan, Emma L. (2021) Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5? Journal of Clinical Endocrinology and Metabolism, 106(4), e1163-e1182.

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Seymour, Matthew, Robertson, Thomas, Papacostas, Jason, Morris, Kirk, Gillespie, Jennifer, Norris, Debra, & 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), Article number: 20-0100.

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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, Grazyna G., Miklaszewska, Monika, Steiner, Robert D., Raggio, Cathy, Blank, Robert, Baris Feldman, Hagit, Milo Rasouly, Hila, Sobreira, Nara L.M., Jobling, Rebekah, Gordon, Christopher T., Giampietro, Philip F., Dunwoodie, Sally L., & Chapman, Gavin (2020) Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics, 29(22), pp. 3662-3678.

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Cronin, Owen, Subedi, Deepak, 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 A., McKenna, Malachi J., Crowley, Rachel K., Fraser, William D., Tang, Jonathan, Gennari, Luigi, Nuti, Rannuccio, Brandi, Maria Luisa, del Pino-Montes, Javier, Devogelaer, Jean Pierre, Durnez, Anne, Isaia, Giovanni Carlo, Di Stefano, Marco, Rubio, Josep Blanch, Guanabens, Nuria, Seibel, Markus J., Walsh, John P., Kotowicz, Mark A., Nicholson, Geoffrey C., Duncan, Emma L., Major, Gabor, Horne, Anne, Gilchrist, Nigel L., & 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), pp. 1246-1252.

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McInerney-Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Brown, Matthew A., & Duncan, Emma (2020) Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study. Frontiers in Genetics, 11, Article number: 461.

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

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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., Duncan, Emma L., & other, and (2020) 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), pp. 92-105.

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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., Walsh, John P., Kotowicz, Mark A., Nicholson, Geoffrey C., Duncan, Emma L., Major, Gabor, Horne, Anne, Gilchrist, Nigel L., Boers, Maarten, Murray, Gordon D., Charnock, Keith, Wilkinson, Diana, Russell, R. Graham G., & 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), Article number: e030689.

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Johnson, Stephanie R., Carter, Hannah E., Leo, Paul J., Hollingworth, Samantha, Davis, Elizabeth, Jones, Timothy W., Conwell, Louise S., Harrison, Mark D., Brown, Matthew A., Graves, Nicholas, & 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.

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Johnson, Stephanie, Ellis, Jonathan, Leo, Paul, Anderson, Lisa, Ganti, Uma, Harris, Jessica, Curran, Jacqueline, McInerney-Leo, Aideen, Paramalingam, Nirubasini, Song, Sharon, Conwell, Louise, Harris, Mark, Jones, Timothy, Brown, Matt, Davis, Elizabeth, & Duncan, Emma (2019) Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort. Pediatric Diabetes, 20(1), pp. 57-64.

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Johnson, Stephanie, Carter, Hannah, Leo, Paul, Hollingworth, Samantha, Davis, Elizabeth, Jones, Timothy, Conwell, Louise, Harris, Mark, Brown, Matt, Graves, Nicholas, & Duncan, Emma (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), pp. 69-76.

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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, Lopez-Siguero, Juan P., Harris, Mark, Duncan, Emma L., Hindmarsh, Peter C., Auchus, Richard J., Donaldson, Malcolm D., Achermann, John C., & Metherell, Louise A. (2019) Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing. Journal of the Endocrine Society, 3(1), pp. 201-221.

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Thuzar, Moe, Perry-Keene, Donald A., d'Emden, Michael C., & Duncan, Emma L. (2018) An Adrenocortical Carcinoma Evolving from A Small Adrenal Incidentaloma after Years of Latency. AACE Clinical Case Reports, 4(1), pp. 65-69.

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Duncan, Emma (2018) Atypical femoral fracture: A fascinating story in evolution [Editorial]. Journal of Bone and Mineral Research, 33(12), pp. 2089-2090.

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Benn, Diana, Zhu, Ying, Andrews, Katrina, Wilding, Mathilda, Duncan, Emma, Dwight, Trisha, Tothill, Richard, Burgess, John, Crook, Ashley, Gill, Anthony, & other, and (2018) Bayesian approach to determining penetrance of pathogenic SDH variants. Journal of Medical Genetics, 55(11), pp. 729-734.

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Johnson, Stephanie, Leo, Paul, Conwell, Louise, Harris, Mark, Brown, Matt, & Duncan, Emma (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), pp. 764-767.

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Duncan, Emma & Brown, Matt (2018) Genome-wide association studies. In Whyte, M, Eisman, J, Thakker, R, & Igarashi, T (Eds.) Genetics of bone biology and skeletal disease (2nd Edition). Academic Press, United Kingdom, pp. 33-41.

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Gregson, Celia, Newell, Felicity, Leo, Paul, Clark, Graeme, Paternoster, Lavinia, Clout, Mhairi, Forgetta, Vincenzo, Morris, John, Ge, Bing, Bao, Xiao, Bassett, J.H. Duncan, Williams, Graham, Youlten, Scott, Croucher, Peter, Smith, George Davey, Evans, David, Kemp, John, Brown, Matt, Tobias, Jonathan, & Duncan, Emma (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, pp. 62-71.

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Bao, Xiao, Hanson, Aimee, Madeleine, Margaret, Wang, Sophia, Schwartz, Stephen, Newell, Felicity, Pettersson-Kymmer, Ulrika, Hemminki, Kari, Tiews, Sven, Steinberg, Winfried, Clout, Mhairi, Brown, Matt, Duncan, Emma, & Leo, Paul (2018) HLA and KIR associations of cervical neoplasia. Journal of Infectious Diseases, 218(12), pp. 2003-2015.

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Alonso, Nerea, Estrada, Karol, Albagha, Omar, Herrera, Lizbeth, Reppe, Sjur, Olstad, Ole, Gautvik, Kaare, Ryan, Niamh, Evans, Kathryn, Nielson, Carrie, Brown, Matt, Duncan, Emma, & other, and (2018) Identification of a novel locus on chromosome 2q13, which predisposes to clinical vertebral fractures independently of bone density. Annals of the Rheumatic Diseases, 77(3), pp. 378-385.

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Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma, McInerney-Leo, Aideen, Wheeler, Patricia, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, MaryAnn, Eyre, David, Schwarze, Ulrike, & Byers, Peter (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), pp. 1260-1271.

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McInerney-Leo, Aideen, Wheeler, Lawrie, Sturm, Richard, Tan, Jean-Marie, Harris, Jessica, Anderson, Lisa, Jagirdar, Kasturee, Brown, Matt, Leo, Paul, Soyer, H. Peter, & Duncan, Emma (2018) Point mutation in p14ARF-specific exon 1Beta of CDKN2A causing familial melanoma and astrocytoma (Research Letter). British Journal of Dermatology, 178(4), e263-e264.

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Ze Ya Maung, Kyaw, Leo, Paul, Bassal, Mahmoud, Casolari, Debora, Gray, James, Bray, Sarah, Pederson, Stephen, Singhal, Deepak, Samaraweera, Saumya, Nguyen, Tran, Cildir, Gokhan, Clout, Mhairi, Ewing, Adam, Duncan, Emma, Brown, Matt, Saal, Russell, & other, and (2018) Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia. Blood Cancer Journal, 8, Article number: 50 1-5.

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Johnson, Stephanie, Leo, Paul, McInerney-Leo, Aideen, Anderson, Lisa, Clout, Mhairi, McGown, Ivan, Newell, Felicity, Brown, Matt, Conwell, Louise, Harris, Mark, & Duncan, Emma (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), pp. 656-662.

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Johnson, Stephanie, McGown, Ivan, Oppermann, Udo, Conwell, Louise, Harris, Mark, & Duncan, Emma (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), pp. 905-909.

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Achong, Naomi, Duncan, Emma, McIntyre, David, & Callaway, Leonie (2018) The physiological and glycaemic changes in breastfeeding women with type 1 diabetes mellitus. Diabetes Research and Clinical Practice, 135, pp. 93-101.

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Szot, Justin, Cuny, Hartmut, Blue, Gillian, Humphreys, David, Ip, Eddie, Harrison, Katrina, Sholler, Gary, Giannoulatou, Eleni, Leo, Paul, Duncan, Emma, & other, and (2018) A screening approach to identify clinically actionable variants causing congenital heart disease in exome data. Circulation: Genomic and Precision Medicine, 11(3), Article number: e001978 1-11.

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Carter, H.E., Hollingworth, S., Duncan, E.L., Brown, M.A., Davis, E., Graves, N., & Johnson, S.R. (2017) Cost-effectiveness of genetic screening for maturity onset diebetes of the young (Mody). Value in Health, 20(5), A171-A172.

Barraza-García, Jimena, Rivera-Pedroza, Carlos, Hisado-Oliva, Alfonso, Belinchon-Martínez,, Alberta, Sentchordi-Montane, Lucía, Duncan, Emma, Clark, Graeme, del Pozo, Angela, Ibanez-Garo, Kristina, Offiah, Amaka, Prieto-Matos, Pablo, Cormier-Daire, Valerie, & Heath, Karen (2017) Broadening the phenotypic spectrum of POP1-skeletal dysplasias: Identification of POP1 mutations in a mild and severe skeletal dysplasia. Clinical Genetics, 92(1), pp. 91-98.

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Lazarus, Syndia, Tseng, Hsu-Wen, Lawrence, Felicity, Woodruff, Mia, Duncan, Emma, & Pettit, Allison (2017) Characterization of normal murine carpal bone development prompts re-evaluation of pathologic osteolysis as the cause of human carpal-tarsal osteolysis disorders. American Journal of Pathology, 187(9), pp. 1923-1934.

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Duncan, Emma (2017) Conclusions and future directions: 'The known unknowns ...'. Nephrology, 22(S2), pp. 70-71.

Flynn, Aidan, Dwight, Trisha, Benn, Diana, Deb, Siddhartha, Colebatch, Andrew, Fox, Stephen, Harris, Jessica, Duncan, Emma, Robinson, Bruce, Hogg, Annette, Ellul, Jason, To, Henry, Duong, Cuong, Miller, Julie-Anne, Yates, Christopher, & other, and (2017) Cousins not twins: Intratumoural and intertumoural heterogeneity in syndromic neuroendocrine tumours. Journal of Pathology, 242(3), pp. 273-283.

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McInerney-Leo, Aideen, Wheeler, Lawrie, Marshall, Mhairi, Anderson, Lisa, Zankl, Andreas, Brown, Matt, Leo, Paul, Wicking, Carol, & Duncan, Emma (2017) Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum. American Journal of Medical Genetics, Part A, 173(6), pp. 1698-1704.

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Lim, Wai & Duncan, Emma (2017) Is there a role or target value for nutritional vitamin D in chronic kidney disease? Nephrology, 22(S2), pp. 57-64.

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Willems, Sara, Wright, Daniel, Day, Felix, Trajanoska, Katerina, Joshi, Peter, Duncan, Emma, & other, and (2017) Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness. Nature Communications, 8, Article number: 16015 1-12.

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Shi, Hongjun, Enriquez, Annabelle, Rapadas, Melissa, Martin, Ella, Wang, Roni, McInerney-Leo, Aideen, Leo, Paul, Brown, Matt, Duncan, Emma, & other, and (2017) NAD deficiency, congenital malformations, and niacin supplementation. The New England Journal of Medicine, 377(6), pp. 544-552.

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Clarke, Melissa, Dover, Thomas, & Duncan, Emma (2017) New and emerging therapies for osteoporosis. Endocrinology Today, 6(1), pp. 17-20.

English, Katherine, Inder, Warwick, Weedon, Zara, Dimeski, Goce, Sorbello, Jane, Russell, Anthony, Duncan, Emma, & 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), pp. 35-43.

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Robinson, Philip, Leo, Paul, Pointon, Jennifer, Harris, Jessica, Cremin, Katie, Bradbury, Linda, Stebbings, Simon, Harrison, Andrew, Duncan, Emma, Evans, David, Wordsworth, Paul (B.P.), Brown, Matt, & other, and (2016) Exome-wide study of ankylosing spondylitis demonstrates additional shared genetic background with inflammatory bowel disease. npj Genomic Medicine, 1, Article number: 16008 1-6.

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McInerney-Leo, Aideen, Harris, Jessica, Gattas, Michael, Peach, Elizabeth, Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher, Wheeler, Lawrie, Anderson, Lisa, Brown, Matt, Leo, Paul, Wicking, Carol, & Duncan, Emma (2016) Fryns syndrome associated with recessive mutations in PIGN in two separate families. Human Mutation, 37(7), pp. 695-702.

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Achong, Naomi, McIntyre, Harold, Callaway, Leonie, & Duncan, Emma (2016) Glycaemic behaviour during breastfeeding in women with Type 1 diabetes. Diabetic Medicine, 33(7), pp. 947-955.

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Niu, Tianhua (Tim), Liu, Ning, Yu, Xun, Zhao, Ming, Choi, Hyung Jin, Leo, Paul, Brown, Matthew, Duncan, Emma, & other, and (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), pp. 358-368.

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McInerney-Leo, Aideen, Le Goff, Carine, Leo, Paul, Kenna, Tony, Keith, Patricia, Harris, Jessica, Steer, Ruth, Bole-Feysot, Christine, Nitschke, Patrick, Kielty, Cay, Brown, Matt, Zankl, Andreas, Duncan, Emma, & Cormier-Daire, Valerie (2016) Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics, 53(7), pp. 457-464.

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Wade, Emma, Daniel, Philip, Jenkins, Zandra, McInerney-Leo, Aideen, Leo, Paul, Morgan, Tim, Addor, Marie-Claude, Ades, Lesley, Bertola, Debora, Bohring, Axel, other, and, Brown, Matt, & Duncan, Emma (2016) Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. American Journal of Human Genetics, 99(2), pp. 392-406.

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Cortes, Claudio, McInerney-Leo, Aideen, Vogel, Ida, Rondon Galeano, Maria, Leo, Paul, Harris, Jessica, Anderson, Lisa, Keith, Patricia, Brown, Matt, Ramsing, Mette, Duncan, Emma, Zankl, Andreas, & 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, Article number: 24083 1-10.

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Gregson, Celia, Wheeler, Lawrie, Hardcastle, Sarah, Appleton, Louise, Addison, Kathryn, Brugmans, Marieke, Clark, Graeme, Ward, Kate, Paggiosi, Margaret, Stone, Mike, Brown, Matthew, Duncan, Emma, & other, and (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), pp. 640-649.

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Flynn, Aidan, Dwight, Trisha, Harris, Jessica, Benn, Diana, Zhou, Li, Hogg, Annette, Catchpoole, Daniel, James, Paul, Duncan, Emma, Trainer, Alison, Gill, Anthony, Clifton-Bligh, Roderick, Hicks, Rodney, & Tothill, Richard (2016) Pheo-type: A diagnostic gene-expression assay for the classification of pheochromocytoma and paraganglioma. Journal of Clinical Endocrinology and Metabolism, 101(3), pp. 1034-1043.

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Robinson, Philip, Leo, Paul, Pointon, Jennifer, Harris, Jessica, Cremin, Katie, Bradbury, Linda, Stebbings, Simon, Harrison, Andrew, Evans, D., Duncan, Emma, Wordsworth, Paul (B.P.), Brown, Matthew, & other, and (2016) The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitis. Genes and Immunity, 17(1), pp. 46-51.

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McInerney-Leo, Aideen, Duncan, Emma, Leo, Paul, Gardiner, Brooke, Bradbury, Linda, Harris, Jessica, Clark, Graeme, Brown, Matthew, & Zankl, Andreas (2015) 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), pp. 49-55.

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McInerney-Leo, Aideen, Sparrow, Duncan, Harris, Jessica, Gardiner, Brooke, Marshall, Mhairi, O'Reilly, Victoria, Shi, Hongjun, Brown, Matthew, Leo, Paul, Zankl, Andreas, Dunwoodie, Sally, & Duncan, Emma (2015) Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Human Molecular Genetics, 24(5), pp. 1234-1242.

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Niu, Tianhua (Tim), Liu, Ning, Zhao, Ming, Xie, Guie, Zhang, Lei, Li, Jian, Pei, Yu-Fang, Shen, Hui, Fu, Xiaoying, He, Hao, Leo, Paul, Duncan, Emma, Brown, Matthew, & other, and (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), pp. 4710-4727.

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Loh, Nellie, Neville, Matt, Marinou, Kyriakoula, Hardcastle, Sarah, Fielding, Barbara, Duncan, Emma, McCarthy, Mark, Tobias, Jonathan, Gregson, Celia, Karpe, Fredrik, & 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), pp. 262-272.

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Williams, Kelly, McCann, Emily, Fifita, Jennifer, Zhang, Katharine, Duncan, Emma, Leo, Paul, Marshall, Mhairi, Rowe, Dominic, Nicholson, Garth, & Blair, Ian (2015) Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin. Neurobiology of Aging, 36(12), 3334.e1-3334.e5.

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McInerney-Leo, Aideen, Harris, Jessica, Leo, Paul, Marshall, Mhairi, Gardiner, Brooke, Kinning, E., Leong, Huey Yin, McKenzie, Fiona, Ong, W., Vodopiutz, Julia, Wicking, Carol, Brown, Matthew, Zankl, Andreas, & 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), pp. 550-557.

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Zheng, Hou-Feng, Forgetta, Vincenzo, Hsu, Yi-Hsiang, Estrada, Karol, Rosello-Diez, Alberto, Leo, Paul, Dahia, Chitra, Park-Min, Kyung Hyun, Tobias, Jonathan, Kooperberg, Charles, Duncan, Emma, & other, and (2015) Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature, 526(7571), pp. 112-117.

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Clark, Graeme & Duncan, Emma (2015) The genetics of osteoporosis. British Medical Bulletin, 113(1), pp. 73-81.

33

25

Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claud, 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, & Brown, Matthew A. (2014) Erratum: Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. American Journal of Human Genetics, 94(4), p. 643.

82

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Gregson, Celia, Poole, Kenneth, McCloskey, Eugene, Duncan, Emma, Rittweger, Jorn, Fraser, William, Smith, George Davey, & Tobias, Jonathan (2014) Elevated circulating sclerostin concentrations in individuals with high bone mass, with and without LRP5 mutations. Journal of Clinical Endocrinology and Metabolism, 99(8), pp. 2897-2907.

120

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12

Oei, Ling, Estrada, Karol, Duncan, Emma, Christiansen, Claus, Liu, Ching-Ti, Langdahl, Bente, Obermayer-Pietsch, Barbara, Riancho, Jose, Prince, Richard, Brown, Matthew, & other, and (2014) Genome-wide association study for radiographic vertebral fractures: A potential role for the 16q24 BMD locus. Bone, 59, pp. 20-27.

28

25

Lazarus, Syndia, McInerney-Leo, Aideen, McKenzie, Fiona, Baynam, Gareth, Broley, Stephanie, Cavan, Barbra, Munns, Craig, Pruijs, Johannes Egbertus Hans, Sillence, David, Terhal, Paulien, Pryce, Karena, Brown, Matthew, Zankl, Andreas, Thomas, Gethin, & Duncan, Emma (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, Article number: 107 1-6.

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17

Zhang, Lei, Choi, Hyung Jin, Estrada, Karol, Leo, Paul, Li, Jian, Pei, Yu-Fang, Zhang, Yinping, Lin, Yong, Shen, Hui, Duncan, Emma, & other, and (2014) Multistage genome-wide association meta-analyses identified two new loci for bone mineral density. Human Molecular Genetics, 23(7), pp. 1923-1933.

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Lazarus, Syndia, Zankl, Andreas, & Duncan, Emma (2014) Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery. Osteoporosis International, 25(2), pp. 407-422.

16

Peters, Geeske, Tett, Susan, Duncan, Emma, Mishra, Gita, & Dobson, Annette (2014) Osteoporosis medication dispensing for older Australian women from 2002 to 2010: influences of publications, guidelines, marketing activities and policy. Pharmacoepidemiology and Drug Safety, 23(12), pp. 1303-1311.

21

16

Achong, Naomi, Duncan, Emma, McIntyre, David, & Callaway, Leonie (2014) Peripartum management of Glycemia in women with Type 1 diabetes. Diabetes Care, 37(2), pp. 364-371.

132

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23

McInerney-Leo, Aideen, Marshall, Mhairi, Gardiner, Brooke, Benn, Diana, McFarlane, Janelle, Robinson, Bruce, Brown, Matthew, Leo, Paul, Clifton-Bligh, Roderick, & Duncan, Emma (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), pp. 25-33.

34

32

Lazarus, Syndia, Moffatt, Pierre, Duncan, Emma, & Thomas, Gethin (2014) A brilliant breakthrough in OI type V. Osteoporosis International, 25(2), pp. 399-405.

5

4

Duncan, Emma, Brown, Matthew, & Shore, Eileen (2014) The revolution in human monogenic disease mapping. Genes, 5(3), pp. 792-803.

124

19

17

Gregson, Celia, Paggiosi, Margaret, Crabtree, Nicola, Steel, Sue, McCloskey, Eugene, Duncan, Emma, Fan, Bo, Shepherd, John, Fraser, William, Smith, George Davey, & Tobias, Jonathan (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), pp. 818-828.

152

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23

Sparrow, Duncan, McInerney-Leo, Aideen, Gucev, Zoran, Gardiner, Brooke, Marshall, Mhairi, Leo, Paul, Chapman, Deborah, Tasic, Velibor, Shishko, Abduhadi, Brown, Matthew, Duncan, Emma, & Dunwoodie, Sally (2013) Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Human Molecular Genetics, 22(8), pp. 1625-1631.

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Halbritter, Jan, Bizet, Albane, Schmidts, Miriam, Porath, Jonathan, Braun, Daniela, Gee, Heon Yung, McInerney-Leo, Aideen, Krug, Pauline, Filhol, Emilie, Brown, Matthew, Duncan, Emma, & other, and (2013) Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. American Journal of Human Genetics, 93(5), pp. 915-925.

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Duncan, Emma & Brown, Matthew (2013) Genome-wide association studies. In Whyte, M P, Eisman, J A, Thakker, R V, & Igarashi, T (Eds.) Genetics of bone biology and skeletal disease. Elsevier Inc., United Kingdom, pp. 93-100.

2

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

89

75

Zheng, Hou-Feng, Duncan, Emma, Yerges-Armstrong, Laura, Eriksson, Joel, Bergstrom, Ulrica, Leo, Paul, Leslie, William, Goltzman, David, Blangero, John, Brown, Matthew, & other, and (2013) Meta-analysis of genome-wide studies identifies MEF2C SNPs associated with bone mineral density at forearm. Journal of Medical Genetics, 50(7), pp. 473-478.

173

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15

Daniel, A., D'Emden, Michael, & Duncan, Emma (2013) Pituitary gigantism treated successfully with the growth hormone receptor antagonist, pegvisomant [Letter]. Internal Medicine Journal, 43(3), pp. 345-347.

4

3

Britten, Fiona, Ulett, Kimberly, Duncan, Emma, & Perry-Keene, Donald (2013) Primary amenorrhoea with hypertension: undiagnosed 17-a-hydroxylase deficiency. Medical Journal of Australia, 199(8), pp. 556-558.

12

8

McInerney-Leo, Aideen, Schmidts, Miriam, Cortes, Claudio, Leo, Paul, Gener, Blanca, Courtney, Andrew, Gardiner, Brooke, Harris, Jessica, Lu, Yeping, Marshall, Mhairi, Scambler, Peter, Beales, Philip, Brown, Matthew, Zankl, Andreas, Mitchison, Hannah, Duncan, Emma, & Wicking, Carol (2013) Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. American Journal of Human Genetics, 93(3), pp. 515-523.

122

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87

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

Anderson, Robert, Henry, Margaret, Taylor, Roberta, Duncan, Emma, Danoy, Patrick, Costa, Marylia, Addison, Kathryn, Tye-Din, Jason, Kotowicz, Mark, Knight, Ross, Pollock, Wendy, Nicholson, Geoffrey, Toh, Ban-Hock, Brown, Matthew, & Pasco, Julie (2013) A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways. BMC Medicine, 11, Article number: 188 1-13.

230

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81

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

52

44

Estrada, Karol, Styrkarsdottir, Unnur, Evangelou, Evangelos, Hsu, Yi-Hsiang, Duncan, Emma, Ntzani, Evangelia, Oei, Ling, Albagha, Omar, Amin, Najaf, Brown, Matthew, & other, and (2012) Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nature Genetics, 44(5), pp. 491-501.

235

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Zankl, Andreas, Duncan, Emma, Leo, Paul, Clark, Graeme, Glazov, Evgeny, Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno, Brown, Matthew, & other, and (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), pp. 494-501.

94

76

Bradbury, Linda, Barlow, S., Geoghegan, Frank, Hannon, Rosemary, Stuckey, Stephen, Wass, John, Russell, Graham (R.G.G.), Brown, Matthew, & Duncan, Emma (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), pp. 285-294.

46

35

Zheng, Hou-Feng, Tobias, Jon, Duncan, Emma, Evans, David, Eriksson, Joel, Paternoster, Lavinia, Yerges-Armstrong, Laura, Lehtimaki, Terho, Bergstrom, Ulrica, Brown, Matthew, & other, and (2012) WNT16 influences bone mineral density, cortical bone thickness, bone strength, and osteoporotic fracture risk. PLoS Genetics, 8(7), Article number: e1002745 1-13.

223

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202

Lazarus, Syndia & Duncan, Emma (2012) Why use parenteral therapies for osteoporosis? Endocrinology Today, 1(3), pp. 22-25.

Duncan, Emma (2011) Counting the cost: estimating the number of deaths among recently released prisoners in Australia [Letter to the editor]. Medical Journal of Australia, 195(7), p. 383.

Duncan, Emma, Danoy, Patrick, Kemp, John, Leo, Paul, McCloskey, Eugene, Brown, Matthew, & other, and (2011) Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genetics, 7(4), Article number: e1001372 1-10.

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187

Glazov, Evgeny, Zankl, Andreas, Donskoi, Marina, Kenna, Tony, Thomas, Gethin, Clark, Graeme, Duncan, Emma, & Brown, Matthew (2011) Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. PLoS Genetics, 7(3), Article number: e1002027 1-7.

125

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53

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

48

126

120

Duncan, Emma & Brown, Matthew (2010) Genetic determinants of bone density and fracture risk - State of the art and future directions. Journal of Clinical Endocrinology and Metabolism, 95(6), pp. 2576-2587.

38

27

Duncan, Emma & Brown, Matthew (2010) Mapping genes for osteoporosis-Old dogs and new tricks. Bone, 46(5), pp. 1219-1225.

8

5

Hollingworth, Samantha, Duncan, Emma, & Martin, Jennifer (2010) Marked increase in proton pump inhibitors use in Australia. Pharmacoepidemiology and Drug Safety, 19(10), pp. 1019-1024.

104

93

Hollingworth, Samantha, Gunanti, Inong, Nissen, Lisa, & Duncan, Emma (2010) Secondary prevention of osteoporosis in Australia: Analysis of government-dispensed prescription data. Drugs and Aging, 27(3), pp. 255-264.

11

10

Davidson, Stuart, Wu, Xin, Liu, Yu, Wei, Meng, Danoy, Patrick, Thomas, Gethin, Cai, Qing, Sun, Linyun, Duncan, Emma, Wang, Niansong, other, and, & Brown, Matthew (2009) Association of ERAP1, but not IL23R, with ankylosing spondylitis in a Han Chinese population. Arthritis and Rheumatism, 60(11), pp. 3263-3268.

113

114

Timpson, Nicholas, Tobias, Jonathan, Richards, J. Brent, Soranzo, Nicole, Duncan, Emma, Sims, Anne-Marie, Whittaker, Pamela, Kumanduri, Vasudev, Zhai, Guangju, Glaser, Beate, Brown, Matthew, & other, and (2009) Common variants in the region around Osterix are associated with bone mineral density and growth in childhood. Human Molecular Genetics, 18(8), pp. 1510-1517.

108

106

Petchey, William, Hickman, Ingrid, Duncan, Emma, Prins, Johannes, Hawley, Carmel, Johnson, David, Barraclough, Katherine, & Isbel, Nicole (2009) The role of 25-hydroxyvitamin D deficiency in promoting insulin resistance and inflammation in patients with Chronic Kidney Disease: a randomised controlled trial (Study Protocol). BMC Nephrology, 10, Article number: 41 1-6.

63

27

19

Duncan, Emma & Brown, Matthew (2008) Genetic studies in osteoporosis - The end of the beginning. Arthritis Research and Therapy, 10(5), Article number: 214 1-8.

112

23

18

Vilariño-Güell, Carles, Miles, Lisa, Duncan, Emma, Ralston, Stuart, Brown, Matthew, & other, and (2007) PTHR1 polymorphisms influence BMD variation through effects on the growing skeleton. Calcified Tissue International, 81(4), pp. 270-278.

22

15

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., & Brown, Matthew A. (2004) Influence of LRP5 polymorphisms on normal variation in BMD. Journal of Bone and Mineral Research, 19(10), pp. 1619-1627.

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Duncan, Emma L., Cardon, Lon R., Sinsheimer, Janet S., Wass, John A.H., & Brown, Matthew A. (2003) Site and gender specificity of inheritance of bone mineral density. Journal of Bone and Mineral Research, 18(8), pp. 1531-1538.

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Duncan, Emma L., Brown, Matthew A., Sinsheimer, Janet, Bell, John, Carr, Andrew J., Wordsworth, B. Paul, & Wass, John A.H. (1999) Suggestive linkage of the parathyroid receptor type 1 to osteoporosis. Journal of Bone and Mineral Research, 14(12), pp. 1993-1999.

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Brown, Matthew A., Kennedy, L. Gail, MacGregor, Alex J., Darke, Chris, Duncan, Emma, Shatford, Jane L., Taylor, Andrew, Calin, Andrei, & Wordsworth, Paul (1997) Susceptibility to ankylosing spondylitis in twins: The role of genes, HLA, and the environment. Arthritis and Rheumatism, 40(10), pp. 1823-1828.

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