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..
Hum Mutat
43(3)
:
362 -379
2022
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Tucker, EJ, Bell, KM, Robevska, G, van den Bergen, J, Ayers, KL, Listyasari, N, Faradz, SM, Dulon, J, Bakhshalizadeh, S, Sreenivasan, R, et al.
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes..
Eur J Hum Genet
30(2)
:
219 -228
2022
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Sreenivasan, R, Gonen, N, Sinclair, A.
SOX Genes and Their Role in Disorders of Sex Development..
Sex Dev
16(2-3)
:
80 -91
2022
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McElreavey, K, Sinclair, A.
Genetics of Differences of Sex Development..
Sex Dev
16(2-3)
:
77 -79
2022
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Listyasari, NA, Juniarto, AZ, Robevska, G, Ayers, KL, Sinclair, AH, Faradz, SMH.
Analysis of the androgen receptor (AR) gene in a cohort of Indonesian undermasculinized 46, XY DSD patients.
Egyptian Journal of Medical Human Genetics
22(1)
:
14
2021
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