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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