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
Yeung, A, Bruno, D, Scheffer, IE, Carranza, D, Burgess, T, Slater, HR, Amor, DJ.
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.
European Journal of Medical Genetics
52(6)
:
440 -442
2009
view publication
Susman, MR, Amor, DJ, Halliday, JL.
Non‐invasive prenatal diagnosis — toward a new horizon.
The Medical Journal of Australia
191(7)
:
414 -414
2009
view publication
Hunter, M, Bruno, D, Amor, DJ.
Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.
American Journal of Medical Genetics Part A
149A(8)
:
1763 -1767
2009
view publication
Amor, DJ, Xu, JX, Halliday, JL, Francis, I, Healy, DL, Breheny, S, Baker, HWG, Jaques, AM.
Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndrome.
Human Reproduction
24(6)
:
1330 -1338
2009
view publication
Yeung, A, Amor, D, Savarirayan, R.
Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: Two new reports of MOTA syndrome.
American Journal of Medical Genetics Part A
149A(4)
:
767 -769
2009
view publication