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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

  • Tucker, EJ, Jaillard, S, Sinclair, AH. Chapter 17 Update on the genetics and genomics of premature ovarian insufficiency. 439 -461 2023
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  • Tucker, EJ, Baker, MJ, Hock, DH, Warren, JT, Jaillard, S, Bell, KM, Sreenivasan, R, Bakhshalizadeh, S, Hanna, CA, Caruana, NJ, et al. Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.. J Clin Endocrinol Metab 107(12) : 3328 -3340 2022
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  • Tucker, EJ, Tan, TY, Stark, Z, Sinclair, AH. Genomic testing in premature ovarian insufficiency: proceed with caution.. Biol Reprod 107(5) : 1155 -1158 2022
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  • Kline, BL, Jaillard, S, Bell, KM, Bakhshalizadeh, S, Robevska, G, van den Bergen, J, Dulon, J, Ayers, KL, Christodoulou, J, Tchan, MC, et al. Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency.. Genes (Basel) 13(11) : 2022
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  • Tucker, EJ, Gutfreund, N, Belaud-Rotureau, M-A, Gilot, D, Brun, T, Kline, BL, Bell, KM, Domin-Bernhard, M, Théard, C, Touraine, P, et al. Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency.. Hum Mutat 43(10) : 1443 -1453 2022
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