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Details

Role Group Leader / Honorary Fellow Manager
Research area Clinical Sciences

Contact

Available for student supervision
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.

I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and...
I am a consultant clinical geneticist and clinician scientist with a research focus on human genetics. In 2016 I was appointed to the position of inaugural Pamela and Lorenzo Galli Chair in Developmental Medicine, with a specific research and clinical focus on the causes of intellectual and physical disability.

I completed RACP training in paediatrics and clinical genetics in 2000 before undertaking PhD studies in chromosome biology completed in 2004. Since 2005 I have worked as a consultant clinical geneticist at Victorian Clinical Genetics Services (VCGS) and as a Research Group leader at Murdoch Children’s Research Institute (MCRI). From 2009 to 2016 I was Director of Victorian Clinical Genetics Services.

Top Publications

  • Archibald, AD, Smith, MJ, Burgess, T, Scarff, KL, Elliott, J, Hunt, CE, Barns-Jenkins, C, Holt, C, Sandoval, K, Kumar, VS, et al. Correction: Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine 20(11) : 1485 -1485 2018
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  • Amor, DJ. Investigating the child with intellectual disability. Journal of Paediatrics and Child Health 54(10) : 1154 -1158 2018
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  • Ravenscroft, G, Pannell, S, O'Grady, G, Ong, R, Ee, HC, Faiz, F, Marns, L, Goel, H, Kumarasinghe, P, Sollis, E, et al. Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo‐obstruction. Neurogastroenterology & Motility 30(9) : e13371 2018
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  • Lee, E, Le, T, Zhu, Y, Elakis, G, Turner, A, Lo, W, Venselaar, H, Verrenkamp, C-A, Snow, N, Mowat, D, et al. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. Genetics in Medicine 20(9) : 1061 -1068 2018
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  • de Vos, IJHM, Tao, EY, Ong, SLM, Goggi, JL, Scerri, T, Wilson, GR, Low, CGM, Wong, ASW, Grussu, D, Stegmann, APA, et al. Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.. Hum Mol Genet 27(16) : 2775 -2788 2018
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