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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

  • Amor, DJ, Marsh, APL, Storey, E, Tankard, R, Gillies, G, Delatycki, MB, Pope, K, Bromhead, C, Leventer, RJ, Bahlo, M, et al. Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency. Neurology Genetics 2(6) : &na 2016
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  • Hudson, DF, Amor, DJ, Boys, A, Butler, K, Williams, L, Zhang, T, Kalitsis, P. Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome.. PLoS Genet 12(12) : e1006483 2016
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  • Stark, Z, Tan, TY, Chong, B, Brett, GR, Yap, P, Walsh, M, Yeung, A, Peters, H, Mordaunt, D, Cowie, S, et al. A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Genetics in Medicine 18(11) : 1090 -1096 2016
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  • Vaz, B, Popovic, M, Newman, JA, Fielden, J, Aitkenhead, H, Halder, S, Singh, AN, Vendrell, I, Fischer, R, Torrecilla, I, et al. Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair. Molecular Cell 64(4) : 704 -719 2016
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  • Phelan, DG, Anderson, DJ, Howden, SE, Wong, RCB, Hickey, PF, Pope, K, Wilson, GR, Pébay, A, Davis, AM, Petrou, S, et al. ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.. European Heart Journal 37(33) : 2586 -2590 2016
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