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
Miles, DC, Wakeling, SI, Stringer, JM, van den Bergen, JA, Wilhelm, D, Sinclair, AH, Western, PS.
Signaling through the TGF beta-activin receptors ALK4/5/7 regulates testis formation and male germ cell development..
PLoS One
8(1)
:
e54606
2013
view publication
Lambeth, LS, Cummins, DM, Doran, TJ, Sinclair, AH, Smith, CA.
Overexpression of aromatase alone is sufficient for ovarian development in genetically male chicken embryos..
PLoS One
8(6)
:
e68362
2013
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Hersmus, R, Stoop, H, Turbitt, E, Oosterhuis, JW, Drop, SL, Sinclair, AH, White, SJ, Looijenga, LH.
SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype..
BMC Med Genet
13:
108
2012
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Fonseca, DJ, Ojeda, D, Lakhal, B, Braham, R, Eggers, S, Turbitt, E, White, S, Grover, S, Warne, G, Zacharin, M, et al.
CITED2 mutations potentially cause idiopathic premature ovarian failure..
Transl Res
160(5)
:
384 -388
2012
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