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Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data
View ORCID ProfileHaloom Rafehi, David J. Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M White, Martin B Delatycki, View ORCID ProfilePaul J Lockhart, Melanie Bahlo
doi: https://doi.org/10.1101/851675
Haloom Rafehi
1Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia
2Department of Medical Biology, University of Melbourne, Melbourne, Australia
3Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Australia
David J. Szmulewicz
4Cerebellar Ataxia Clinic, Neuroscience Department, Alfred Health, Melbourne, VIC 3004, Australia
5Balance Disorders and Ataxia Service, Royal Victorian Eye & Ear Hospital, East Melbourne, VIC 3002, Australia
Kate Pope
6Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, 50 Flemington Road Parkville, Victoria, 3052, Australia
Mathew Wallis
7Tasmanian Clinical Genetics Service, Tasmanian Health Service, Tasmania, Australia
8School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Tasmania, Australia
John Christodoulou
9Brain and Mitochondrial Research Group, Murdoch Children’s Research Institute, 50 Flemington Road Parkville, Victoria, 3052, Australia
10Department of Pediatrics, The University of Melbourne, 30 Royal Parade Parkville, Victoria, 3052, Australia
Susan M White
10Department of Pediatrics, The University of Melbourne, 30 Royal Parade Parkville, Victoria, 3052, Australia
11Victorian Clinical Genetics Services, 50 Flemington Road Parkville, Victoria, 3052, Australia
12Murdoch Children’s Research Institute, 50 Flemington Road Parkville, Victoria, 3052, Australia
Martin B Delatycki
6Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, 50 Flemington Road Parkville, Victoria, 3052, Australia
10Department of Pediatrics, The University of Melbourne, 30 Royal Parade Parkville, Victoria, 3052, Australia
11Victorian Clinical Genetics Services, 50 Flemington Road Parkville, Victoria, 3052, Australia
Paul J Lockhart
6Bruce Lefroy Centre for Genetic Health Research, Murdoch Children’s Research Institute, 50 Flemington Road Parkville, Victoria, 3052, Australia
10Department of Pediatrics, The University of Melbourne, 30 Royal Parade Parkville, Victoria, 3052, Australia
Melanie Bahlo
1Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia
2Department of Medical Biology, University of Melbourne, Melbourne, Australia
Article usage
Posted November 25, 2019.
Rapid diagnosis of SCA36 in a three-generation family using short-read whole genome sequencing data
Haloom Rafehi, David J. Szmulewicz, Kate Pope, Mathew Wallis, John Christodoulou, Susan M White, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo
bioRxiv 851675; doi: https://doi.org/10.1101/851675
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