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Details

Role Group Leader / Honorary Fellow Manager
Research area Clinical Sciences

Contact

Available for student supervision
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.

I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and...
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.

I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.

Top Publications

  • Garbes, L, Kim, K, Rieß, A, Hoyer-Kuhn, H, Beleggia, F, Bevot, A, Kim, MJ, Huh, YH, Kweon, H-S, Savarirayan, R, et al. Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta. American Journal of Human Genetics 96(3) : 432 -439 2015
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  • Godler, DE, Inaba, Y, Schwartz, CE, Bui, QM, Shi, EZ, Li, X, Herlihy, AS, Skinner, C, Hagerman, RJ, Francis, D, et al. Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. Expert Reviews in Molecular Medicine 17: e13 2015
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  • Turbitt, E, Halliday, JL, Amor, DJ, Metcalfe, SA. Preferences for results from genomic microarrays: comparing parents and health care providers. Clinical Genetics 87(1) : 21 -29 2015
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  • Sim, JCH, White, SM, Fitzpatrick, E, Wilson, GR, Gillies, G, Pope, K, Mountford, HS, Torring, PM, McKee, S, Vulto-van Silfhout, AT, et al. Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet Journal of Rare Diseases 9(1) : 43 2014
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  • Wilson, GR, Sim, JCH, McLean, C, Giannandrea, M, Galea, CA, Riseley, JR, Stephenson, SEM, Fitzpatrick, E, Haas, SA, Pope, K, et al. Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology. American Journal of Human Genetics 95(6) : 729 -735 2014
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