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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

  • Thomson, E, Zhao, L, Chen, Y-S, Longmuss, E, Ng, ET, Sreenivasan, R, Croft, B, Song, X, Sinclair, A, Weiss, M, et al. Generation and mutational analysis of a transgenic mouse model of human SRY. 2024
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  • Tucker, E, Sinclair, A. Mammalian Sex Determination. 2024
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  • Thomson, E, Tran, M, Robevska, G, Ayers, K, Bhaskaran, PG, Haan, E, Cereghini, S, Vash-Margita, A, Margetts, M, Hensley, A, et al. Functional genomics analysis identifies impairment of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome. 2024
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  • B, C, T, O, J, H, J, B, A, Q, J, T, V, C, E, P, J, VDB, R, S, et al. Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. 2024
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  • Ferreira, LGA, Kizys, MML, Gama, GAC, Pachernegg, S, Robevska, G, Sinclair, AH, Ayers, KL, da Silva, MRD. COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors. 2024
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