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
MacLennan, AH, Lewis, S, Moreno-De-Luca, A, Fahey, M, Leventer, RJ, McIntyre, S, Ben-Pazi, H, Corbett, M, Wang, X, Baynam, G, et al.
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
Journal of Child Neurology
34(8)
:
472 -476
2019
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Amor, DJ, Stephenson, SEM, Mustapha, M, Mensah, MA, Ockeloen, CW, Lee, WS, Tankard, RM, Phelan, DG, Shinawi, M, de Brouwer, APM, et al.
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
American Journal of Human Genetics
104(5)
:
914 -924
2019
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Rafehi, H, Szmulewicz, DJ, Bennett, MF, Sobreira, NLM, Pope, K, Smith, KR, Gillies, G, Diakumis, P, Dolzhenko, E, Eberle, MA, et al.
Validation of new bioinformatic tools to identify expanded repeats: a non-reference intronic pentamer expansion inRFC1causes CANVAS.
2019
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Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, JA, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, et al.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genetics in Medicine
21(4)
:
816 -825
2019
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Martyn, M, Kanga‐Parabia, A, Lynch, E, James, PA, Macciocca, I, Trainer, AH, Halliday, J, Keogh, L, Wale, J, Winship, I, et al.
A novel approach to offering additional genomic findings—A protocol to test a two‐step approach in the healthcare system.
Journal of Genetic Counseling
28(2)
:
388 -397
2019
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