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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

  • Brignell, A, Gu, C, Holm, A, Carrigg, B, Sheppard, DA, Amor, DJ, Morgan, AT. Correction: Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome. European Journal of Human Genetics 29(4) : 719 -719 2021
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  • Lewis, S, Amor, DJ, Glynn, A, Wilton, L, Halliday, J. Child health after preimplantation genetic testing. Reproductive BioMedicine Online 42(3) : 609 -619 2021
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  • Jin, SC, Lewis, SA, Bakhtiari, S, Zeng, X, Sierant, MC, Shetty, S, Nordlie, SM, Elie, A, Corbett, MA, Norton, BY, et al. Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature Genetics 53(3) : 412 -412 2021
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  • Radio, FC, Pang, K, Ciolfi, A, Levy, MA, Hernández-García, A, Pedace, L, Pantaleoni, F, Liu, Z, de Boer, E, Jackson, A, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. American Journal of Human Genetics 108(3) : 502 -516 2021
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  • Johnson, N, Maguire, S, Morra, A, Kapoor, PM, Tomczyk, K, Jones, ME, Schoemaker, MJ, Gilham, C, Bolla, MK, Wang, Q, et al. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers. British Journal of Cancer 124(4) : 842 -854 2021
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