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Article

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.

PloS one - 1 Jan 2014

Brett Maggie, McPherson John, Zang Zhi Jiang, Lai Angeline, Tan Ee-Shien, Ng Ivy, Ong Lai-Choo, Cham Breana, Tan Patrick, Rozen Steve, Tan Ene-Choo

Abstract excerpt

Developmental delay and/or intellectual disability (DD/ID) affects 1-3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for genetically heterogeneous conditions. We report on our experiences with using massively parallel sequencing of a...

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Identifiers

PMID: 24690944
DOI: 10.1371/journal.pone.0093409
PMCID: PMC3972136

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Source receipt: pubmed, retrieved 7 Sept 2026.

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