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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

  • Ayers, K, Kumar, R, Robevska, G, Bruell, S, Bell, K, Malik, MA, Bathgate, RA, Sinclair, A. Familial bilateral cryptorchidism is caused by recessive variants in RXFP2.. J Med Genet 56(11) : 727 -733 2019
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  • Croft, B, Ohnesorg, T, Hewitt, J, Bowles, J, Quinn, A, Tan, J, Corbin, V, Pelosi, E, van den Bergen, J, Sreenivasan, R, et al. Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.. Nat Commun 10(1) : 3351 2019
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  • Stark, Z, Boughtwood, T, Phillips, P, Christodoulou, J, Hansen, DP, Braithwaite, J, Newson, AJ, Gaff, CL, Sinclair, AH, North, KN. Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.. Am J Hum Genet 105(1) : 7 -14 2019
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  • Tucker, EJ, Jaillard, S, Grover, SR, van den Bergen, J, Robevska, G, Bell, KM, Sadedin, S, Hanna, C, Dulon, J, Touraine, P, et al. TP63-truncating variants cause isolated premature ovarian insufficiency.. Hum Mutat 40(7) : 886 -892 2019
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  • Ayers, K, van den Bergen, J, Robevska, G, Listyasari, N, Raza, J, Atta, I, Riedl, S, Rothacker, K, Choong, C, Faradz, SMH, et al. Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development.. J Med Genet 56(7) : 434 -443 2019
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