Publications
Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes
Abstract
IntroductionDystonia is a clinically and genetically heterogeneous disorder and a genetic cause is often difficult to elucidate. This is the first study to use whole genome sequencing (WGS) to investigate dystonia in a large sample of affected individuals.
| Type | Journal |
|---|---|
| ISBN | 1353-8020 |
| Authors | Kumar, Kishore R.; Davis, Ryan L.; Tchan, Michel C.; Wali, G. M.; Mahant, Neil; Ng, Karl; Kotschet, Katya; Siow, Sue-Faye; Gu, Jason; Walls, Zachary; Kang, Ce; Wali, Gautam; Levy, Stan; Phua, Chung Sen; Yiannikas, Con; Darveniza, Paul; Chang, Florence C. F.; Morales-Briceno, Hugo; Rowe, Dominic B.; Drew, Alex; Gayevskiy, Velimir; Cowley, Mark J.; Minoche, Andre E.; Tisch, Stephen; Hayes, Michael; Kummerfeld, Sarah; Fung, Victor S. C.; Sue, Carolyn M. |
| Responsible Garvan Author | Dr Kishore Kumar |
| Publisher Name | PARKINSONISM & RELATED DISORDERS |
| Published Date | 2019-12-05 |
| Published Volume | 69 |
| Published Pages | 111-118 |
| Status | Published in-print |
| DOI | 10.1016/j.parkreldis.2019.11.004 |
| URL link to publisher's version | https://doi.org/10.1016/j.parkreldis.2019.11.004 |
| OpenAccess link to author's accepted manuscript version | https://publications.gimr.garvan.org.au/open-access/15227 |