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
St John, M, Ponchard, C, van Reyk, O, Mei, C, Pigdon, L, Amor, DJ, Morgan, AT.
Speech and language in children with Klinefelter syndrome.
Journal of Communication Disorders
78:
84 -96
2019
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..
Am J Hum Genet
104(2)
:
356
2019
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Kraan, CM, Godler, DE, Amor, DJ.
Epigenetics of fragile X syndrome and fragile X‐related disorders.
Developmental Medicine & Child Neurology
61(2)
:
121 -127
2019
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Bancroft, EK, Saya, S, Page, EC, Myhill, K, Thomas, S, Pope, J, Chamberlain, A, Hart, R, Glover, W, Cook, J, et al.
Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations.
BJU International
123(2)
:
284 -292
2019
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Mavaddat, N, Michailidou, K, Dennis, J, Lush, M, Fachal, L, Lee, A, Tyrer, JP, Chen, T-H, Wang, Q, Bolla, MK, et al.
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes.
American Journal of Human Genetics
104(1)
:
21 -34
2019
view publication