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
Tan, TY, Collins, A, James, PA, McGillivray, G, Stark, Z, Gordon, CT, Leventer, RJ, Pope, K, Forbes, R, Crolla, JA, et al.
Phenotypic variability of distal 22q11.2 copy number abnormalities.
American Journal of Medical Genetics Part A
155(7)
:
1623 -1633
2011
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Wilson, CL, Fisher, JR, Hammarberg, K, Amor, DJ, Halliday, JL.
Looking downstream: a review of the literature on physical and psychosocial health outcomes in adolescents and young adults who were conceived by ART.
Human Reproduction
26(5)
:
1209 -1219
2011
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Mill, P, Lockhart, PJ, Fitzpatrick, E, Mountford, HS, Hall, EA, Reijns, MAM, Keighren, M, Bahlo, M, Bromhead, CJ, Budd, P, et al.
Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis.
American Journal of Human Genetics
88(4)
:
508 -515
2011
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Jaques, AM, Amor, DJ, Baker, HWG, Healy, DL, Ukoumunne, OC, Breheny, S, Garrett, C, Halliday, JL.
Adverse Obstetric and Perinatal Outcomes in Subfertile Women Conceiving Without Assisted Reproductive Technologies.
Obstetrical & Gynecological Survey
66(4)
:
203 -204
2011
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McClaren, BJ, Metcalfe, SA, Amor, DJ, Aitken, M, Massie, J.
A case for cystic fibrosis carrier testing in the general population.
The Medical Journal of Australia
194(4)
:
208 -209
2011
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