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
view publication
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
view publication
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
view publication
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
view publication
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
view publication