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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

  • Godler, DE, Christodoulou, J, Bruno, D, Li, X, Inaba, Y, Bui, QM, Francis, D, Elliot, J, Wotton, T, Cohen, J, et al. The use of droplet digital PCR and high resolution melt for detection of low level mosaicism. Pathology 50: s30 2018
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  • Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, JA, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, et al. Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders. 2018
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  • Morgan, AT, Haaften, LV, van Hulst, K, Edley, C, Mei, C, Tan, TY, Amor, D, Fisher, SE, Koolen, DA. Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia. European Journal of Human Genetics 26(1) : 75 -84 2018
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  • Amor, DJ, Bijlsma, EK. Letter regarding the article “Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals (Bijlsma et al., 2009)” and the diagnosis of coexisting Mowat-Wilson syndrome in a patient with 16p11.2 deletion. European Journal of Medical Genetics 61(1) : 48 -49 2018
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  • Lewis, S, Kennedy, J, Burgner, D, McLachlan, R, Ranganathan, S, Hammarberg, K, Saffery, R, Amor, DJ, Cheung, MMH, Doyle, LW, et al. Clinical review of 24–35 year olds conceived with and without in vitro fertilization: study protocol. Reproductive Health 14(1) : 117 2017
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