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Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders.

Developmental medicine and child neurology - 1 Aug 2021

Lee Hsiu-Fen, Chi Ching-Shiang, Tsai Chi-Ren

Abstract excerpt

AIM: To investigate the diagnostic yield and treatment impact of whole-genome sequencing (WGS) in patients with paediatric neurological disorders. METHOD: From January 2016 to December 2019, paediatric patients who had suspected genetic neurological disorders were assessed using WGS. The phenotypes of eligible patients were divided into four groups: patients with neurodevelopmental disorders; patients with...

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Identifiers

PMID: 33244750
DOI: 10.1111/dmcn.14722

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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