Benjamin M Nash1,2,3,4, Dale Wright2,4, Bruce Bennetts2,4, John Grigg1,3,4, Robyn V Jamieson1,3,4 1 Eye Genetics Research Unit, Children’s Medical Research Institute, Sydney Children’s Hospital Network, Hawkesbury Rd, Westmead, NSW 2145 Australia 2 Sydney Genome Diagnostics, Sydney Children’s Hospital Network, Hawkesbury...
- February 17, 2017
Hazel E Phillimore1, Rebecca Gould1, Belinda Chong1, Desirée Du Sart1 1 Molecular Genetics Laboratory, Victorian Clinical Genetics Service, Murdoch Children’s Research Institute/Royal Children’s Hospital, 50 Flemington Road, Parkville, Victoria, Australia Friedreich ataxia (FRDA) is a common autosomal recessive ataxia that...
- February 17, 2017
Peter Field1, Melinda Richter1, Nicole Martin1 1 Virtus Diagnostics – QFG Genetics, Level 1 Boundary Court, 55 Little Edward Street, Brisbane, QLD, 4000 Spinal Muscular Atrophy (SMA) is a severe life limiting autosomal recessive condition with a carrier rate of...
- February 17, 2017
Sarah Pantaleo1 *, Belinda Chong1, Daniel Flanagan1, Ivan Macciocca 2, Jacob Mathew 3 & Desirée du Sart1 1 Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Victoria, Australia 2 Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Victoria, Australia 3 Cardiology Department,...
- February 17, 2017
Greg B Peters1, Con Ngo, & Dale Wright. 1 Sydney Genome Diagnostics, Children’s Hospital Westmead, Hawkesbury Road & Hainsworth Street, Westmead, NSW 2145, Australia Microarray technology has been in routine diagnostic use for more than a decade, and much...
- February 17, 2017
Paul De Fazio1, Ling Sun1, Matthew Hunter2, Abhijit Kulkarni1 1 Cytogenetics, Monash Health, Monash Medical Centre, Clayton, Victoria, 3168 2 Monash Genetics, Monash Health, Monash Medical Centre, Clayton, Victoria, 3168 Approximately 15% of all clinically recognized pregnancies result in...
- February 17, 2017
Abhijit Kulkarni1, Lucy Gugasyan1, Paul Shekleton2, Matthew Hunter3 1 Cytogenetics, Monash Pathology, Monash Medical Centre, Clayton, Victoria, 3168 Abhijit.Kulkarni@Monashhealth.org 2 Fetal Diagnostic Unit, Monash Medical Centre, Monash Medical Centre, Victoria, 3168 3 Monash Genetics, Monash Medical Centre, Victoria, 3168 ...
- February 17, 2017
Lorna Williams1, Paula Lall, Louise Hills, David Francis, Ralph Oertel, Amber Boys, Fiona Norris 1 Victorian Clinical Genetics Services, Royal Children’s Hospital, 50 Flemington Rd, Parkville, VIC 3052. Email: lorna.williams@vcgs.org.au Chromosome microarray analysis (CMA), initially offered in the context of...
- February 17, 2017
Ruth N MacKinnon1,2, Hendrika M Duivenvoorden3, Lynda J Campbell1,2 Meaghan Wall1,2,4 1 Victorian Cancer Cytogenetics Service, PO Box 2900, Fitzroy, Vic 3065 2 Department of Medicine (St Vincent’s), University of Mebourne, Fitzroy, Vic 3065 3 Department of Biochemistry and Genetics,...
- February 15, 2017
