Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

doi:10.1016/j.parkreldis.2019.11.004

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Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.

Parkinsonism & related disorders - 1 Dec 2019

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-Briceño 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

Abstract excerpt

INTRODUCTION: Dystonia 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. METHODS: WGS was performed on 111 probands with heterogenous dystonia phenotypes. We performed analysis for coding and non-coding variants, copy number...

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PMID: 31731261
DOI: 10.1016/j.parkreldis.2019.11.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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