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
Lessel, D, Vaz, B, Halder, S, Lockhart, PJ, Marinovic-Terzic, I, Lopez-Mosqueda, J, Philipp, M, Sim, JCH, Smith, KR, Oehler, J, et al.
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
Nature Genetics
46(11)
:
1239 -1244
2014
view publication
Turbitt, E, Wiest, MM, Halliday, JL, Amor, DJ, Metcalfe, SA.
Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings.
European Journal of Human Genetics
22(10)
:
1225 -1228
2014
view publication
Bancroft, EK, Page, EC, Castro, E, Lilja, H, Vickers, A, Sjoberg, D, Assel, M, Foster, CS, Mitchell, G, Drew, K, et al.
Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study.
European Urology
66(3)
:
489 -499
2014
view publication
Smith, KR, Leventer, RJ, Mackay, MT, Pope, K, Gillies, G, Delatycki, MB, Amor, DJ, Bahlo, M, Lockhart, PJ.
K. R. Smith et al..
International Journal of Stroke
9(6)
:
e26 -e27
2014
view publication
Navarro, CL, Esteves-Vieira, V, Courrier, S, Boyer, A, Duong Nguyen, T, Huong, LTT, Meinke, P, Schröder, W, Cormier-Daire, V, Sznajer, Y, et al.
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.
European Journal of Human Genetics
22(8)
:
1002 -1011
2014
view publication