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
Baker, EK, Godler, DE, Bui, M, Hickerton, C, Rogers, C, Field, M, Amor, DJ, Bretherton, L.
Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes.
Journal of Neurodevelopmental Disorders
10(1)
:
24
2018
view publication
Mohandas, N, Bass-Stringer, S, Maksimovic, J, Crompton, K, Loke, YJ, Walstab, J, Reid, SM, Amor, DJ, Reddihough, D, Craig, JM.
Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation.
Clinical Epigenetics
10(1)
:
25
2018
view publication
Kraan, CM, Bui, QM, Field, M, Archibald, AD, Metcalfe, SA, Christie, LM, Bennetts, BH, Oertel, R, Smith, MJ, du Sart, D, et al.
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Genetics in Medicine
20(12)
:
1627 -1634
2018
view publication
Ulirsch, JC, Verboon, JM, Kazerounian, S, Guo, MH, Yuan, D, Ludwig, LS, Handsaker, RE, Abdulhay, NJ, Fiorini, C, Genovese, G, et al.
The Genetic Landscape of Diamond-Blackfan Anemia.
American Journal of Human Genetics
103(6)
:
930 -947
2018
view publication
Amor, DJ, Kerr, A, Somanathan, N, McEwen, A, Tome, M, Hodgson, J, Lewis, S.
Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors.
Reproductive Health
15(1)
:
26
2018
view publication