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Role Deputy Dir & Head Office of Research
Research area Genomic Medicine
Professor Andrew Sinclair is Deputy Director of the Murdoch Children’s Research Institute and a Professor in Translational Genomics in the Dept. of Paediatrics at the University of Melbourne.

He led a National Health & Medical Research Council Program focusing on the molecular genetics of gonad development and its impact on patients with differences of sex development (DSD). In this capacity he has forged formal linkages with both national and international clinicians, discovered new genes, developed a rapid genomic sequencing panel assay (now in clinical use) that has dramatically improved rates of diagnosis. Recently, he has differentiated human iPS (stem cells) into testis cell lineages for functional analysis of DSD patient variants.

As a Board Director of the Victorian Clinical Genetics Service he has had oversight for implementing a range of genomics applications into clinical service provision, in particular, clinically accredited exomes and whole genomes. He is one of the leaders of the Melbourne Genomics Health Alliance and a lead architect of the Australian Genomics Health Alliance both of which aim to implement genomics into the healthcare system to improve patient outcomes. He has received numerous national and international awards and in 2015 was elected a Fellow of the Australian Academy of Health and Medical Sciences.
Professor Andrew Sinclair is Deputy Director of the Murdoch Children’s Research Institute and a Professor in Translational Genomics in the Dept. of Paediatrics at the University of Melbourne.

He led a National Health & Medical Research Council...
Professor Andrew Sinclair is Deputy Director of the Murdoch Children’s Research Institute and a Professor in Translational Genomics in the Dept. of Paediatrics at the University of Melbourne.

He led a National Health & Medical Research Council Program focusing on the molecular genetics of gonad development and its impact on patients with differences of sex development (DSD). In this capacity he has forged formal linkages with both national and international clinicians, discovered new genes, developed a rapid genomic sequencing panel assay (now in clinical use) that has dramatically improved rates of diagnosis. Recently, he has differentiated human iPS (stem cells) into testis cell lineages for functional analysis of DSD patient variants.

As a Board Director of the Victorian Clinical Genetics Service he has had oversight for implementing a range of genomics applications into clinical service provision, in particular, clinically accredited exomes and whole genomes. He is one of the leaders of the Melbourne Genomics Health Alliance and a lead architect of the Australian Genomics Health Alliance both of which aim to implement genomics into the healthcare system to improve patient outcomes. He has received numerous national and international awards and in 2015 was elected a Fellow of the Australian Academy of Health and Medical Sciences.

Top Publications

  • Jaillard, S, McElreavy, K, Robevska, G, Akloul, L, Ghieh, F, Sreenivasan, R, Beaumont, M, Bashamboo, A, Bignon-Topalovic, J, Neyroud, A-S, et al. STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.. Mol Hum Reprod 26(9) : 665 -677 2020
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  • van den Bergen, JA, Robevska, G, Eggers, S, Riedl, S, Grover, SR, Bergman, PB, Kimber, C, Jiwane, A, Khan, S, Krausz, C, et al. Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.. Mol Genet Genomic Med 8(3) : e1095 2020
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  • Jaillard, S, Sreenivasan, R, Beaumont, M, Robevska, G, Dubourg, C, Knarston, IM, Akloul, L, van den Bergen, J, Odent, S, Croft, B, et al. Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility.. Maturitas 131: 78 -86 2020
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  • Bagheri-Fam, S, Chen, H, Wilson, S, Ayers, K, Hughes, J, Sloan-Bena, F, Calvel, P, Robevska, G, Puisac, B, Kusz-Zamelczyk, K, et al. The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.. PLoS One 15(1) : e0227411 2020
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  • Bouty, A, Ayers, K, Sinclair, A. The Molecular Basis of Sex Determination and Differentiation: Implications for Understanding DSD. 13 -26 2020
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