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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-BriceA+-o, 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