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
Tucker, EJ, Jaillard, S, Sinclair, AH.
Chapter 19 Genetics and Genomics of Primary Ovarian Insufficiency.
427 -445
2019
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Sreenivasan, R, Ludbrook, L, Fisher, B, Declosmenil, F, Knower, KC, Croft, B, Bird, AD, Ryan, J, Bashamboo, A, Sinclair, AH, et al.
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer..
Hum Mutat
39(12)
:
1861 -1874
2018
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Tucker, EJ, Grover, SR, Robevska, G, van den Bergen, J, Hanna, C, Sinclair, AH.
Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice..
Eur J Hum Genet
26(9)
:
1319 -1328
2018
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Bowles, J, Feng, C-W, Ineson, J, Miles, K, Spiller, CM, Harley, VR, Sinclair, AH, Koopman, P.
Retinoic Acid Antagonizes Testis Development in Mice..
Cell Rep
24(5)
:
1330 -1341
2018
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