photo of

Details

Role Group Leader / Honorary Fellow Manager
Research area Clinical Sciences

Contact

Available for student supervision
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