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Article

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

Human mutation - 1 Mar 2009

Koolen David A, Pfundt Rolph, de Leeuw Nicole, Hehir-Kwa Jayne Y, Nillesen Willy M, Neefs Ineke, Scheltinga Ine, Sistermans Erik, Smeets Dominique, Brunner Han G, van Kessel Ad Geurts, Veltman Joris A, de Vries Bert B A

Abstract excerpt

Microarray-based copy number analysis has found its way into routine clinical practice, predominantly for the diagnosis of patients with unexplained mental retardation. However, the clinical interpretation of submicroscopic copy number variants (CNVs) is complicated by the fact that many CNVs are...

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PMID: 19085936
DOI: 10.1002/humu.20883

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19085936-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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