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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