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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

  • Halliday, JL, Muller, C, Charles, T, Norris, F, Kennedy, J, Lewis, S, Meiser, B, Donath, S, Stark, Z, McGillivray, G, et al. Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study. European Journal of Human Genetics 26(4) : 485 -494 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. 2018
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  • Joo, JE, Dowty, JG, Milne, RL, Wong, EM, Dugué, P-A, English, D, Hopper, JL, Goldgar, DE, Giles, GG, Southey, MC, et al. Heritable DNA methylation marks associated with susceptibility to breast cancer.. Nat Commun 9(1) : 867 2018
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  • Arpone, M, Baker, EK, Bretherton, L, Bui, M, Li, X, Whitaker, S, Dissanayake, C, Cohen, J, Hickerton, C, Rogers, C, et al. Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X.. Sci Rep 8(1) : 3644 2018
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  • Harms, FL, Alawi, M, Amor, DJ, Tan, TY, Cuturilo, G, Lissewski, C, Brinkmann, J, Schanze, D, Kutsche, K, Zenker, M. The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. American Journal of Medical Genetics Part A 176(2) : 470 -476 2018
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