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
Guo, D-C, Pannu, H, Tran-Fadulu, V, Papke, CL, Yu, RK, Avidan, N, Bourgeois, S, Estrera, AL, Safi, HJ, Sparks, E, et al.
Erratum: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Nature Genetics
40(2)
:
255 -255
2008
view publication
Guo, D-C, Pannu, H, Tran-Fadulu, V, Papke, CL, Yu, RK, Avidan, N, Bourgeois, S, Estrera, AL, Safi, HJ, Sparks, E, et al.
Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
Nature Genetics
39(12)
:
1488 -1493
2007
view publication
Whitelaw, C, Flett, P, Amor, DJ.
Recurrence risk in Autism Spectrum Disorder: A study of parental knowledge.
Journal of Paediatrics and Child Health
43(11)
:
752 -754
2007
view publication
Amor, DJ, Dahl, HM, Bahlo, M, Bankier, A.
Keipert syndrome (Nasodigitoacoustic syndrome) is X‐linked and maps to Xq22.2–Xq28.
American Journal of Medical Genetics Part A
143A(19)
:
2236 -2241
2007
view publication
Coman, DJ, White, SM, Amor, DJ.
Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?.
American Journal of Medical Genetics Part A
143A(18)
:
2085 -2088
2007
view publication