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Article

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.

PloS one - 1 Jan 2017

Butcher Nancy J, Merico Daniele, Zarrei Mehdi, Ogura Lucas, Marshall Christian R, Chow Eva W C, Lang Anthony E, Scherer Stephen W, Bassett Anne S

Abstract excerpt

OBJECTIVES: To investigate disease risk mechanisms of early-onset Parkinson's disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD. METHODS: In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigate sequence variants in nine adults with 22q11.2DS, three with neuropathologically confirmed early-onset PD and six without PD. Adopting an...

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Identifiers

PMID: 28430790
DOI: 10.1371/journal.pone.0173944
PMCID: PMC5400231

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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