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.
Consortium, TIMR, Win, AK, Dowty, JG, Reece, JC, Lee, G, Templeton, AS, Plazzer, J-P, Buchanan, DD, Akagi, K, Aksoy, S, et al.
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.
The Lancet Oncology
22(7)
:
1014 -1022
2021
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Voisin, N, Schnur, RE, Douzgou, S, Hiatt, SM, Rustad, CF, Brown, NJ, Earl, DL, Keren, B, Levchenko, O, Geuer, S, et al.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
American Journal of Human Genetics
108(5)
:
857 -873
2021
view publication
Valente, GM, Amor, DJ, Ioannou, LJ, Archibald, AD.
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis.
Australian and New Zealand Journal of Obstetrics and Gynaecology
61(2)
:
232 -238
2021
view publication
Brignell, A, Gu, C, Holm, A, Carrigg, B, Sheppard, DA, Amor, DJ, Morgan, AT.
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome.
European Journal of Human Genetics
29(4)
:
564 -574
2021
view publication