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Article

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.

American journal of medical genetics. Part A - 1 Feb 2014

Palmer Emma, Speirs Helen, Taylor Peter J, Mullan Glenda, Turner Gill, Einfeld Stewart, Tonge Bruce, Mowat David

Abstract excerpt

Chromosomal microarray (CMA) is the first-line diagnostic test for individuals with intellectual disability, autism, or multiple congenital anomalies, with a 10-20% diagnostic yield. An ongoing challenge for the clinician and laboratory scientist is the interpretation of variants of uncertain significance (VOUS)-usually rare, unreported genetic variants. Laboratories differ in their threshold for reporting VOUS,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24311194
DOI: 10.1002/ajmg.a.36279

Provenance

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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