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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

  • Horton, S, Jackson, V, Boyce, J, Franken, M-C, Siemers, S, John, MS, Hearps, S, van Reyk, O, Braden, R, Parker, R, et al. Self-Reported Stuttering Severity Is Accurate: Informing Methods for Large-Scale Data Collection in Stuttering.. Journal of Speech Language and Hearing Research 1 -10 2023
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  • Smolen, C, Jensen, M, Dyer, L, Pizzo, L, Tyryshkina, A, Banerjee, D, Rohan, L, Huber, E, El Khattabi, L, Prontera, P, et al. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants. American Journal of Human Genetics 110(12) : 2015 -2028 2023
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  • Hammarberg, K, Halliday, J, Kennedy, J, Burgner, DP, Amor, DJ, Doyle, LW, Juonala, M, Ranganathan, S, Welsh, L, Cheung, M, et al. Does being conceived by assisted reproductive technology influence adult quality of life?. Human Fertility 26(5) : 1008 -1014 2023
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  • Reis, LM, Amor, DJ, Haddad, RA, Nowak, CB, Keppler-Noreuil, KM, Chisholm, SA, Semina, EV. Alternative Genetic Diagnoses in Axenfeld-Rieger Syndrome Spectrum.. Genes (Basel) 14(10) : 2023
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  • Cortese, A, Beecroft, SJ, Facchini, S, Curro, R, Cabrera-Serrano, M, Stevanovski, I, Chintalaphani, S, Gamaarachchi, H, Weisburd, B, Folland, C, et al. A CCG expansion inABCD3causes oculopharyngodistal myopathy in individuals of European ancestry. 2023
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