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Article

Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.

Orphanet journal of rare diseases - 6 Jan 2021

Qaiser Farah, Yin Yue, Mervis Carolyn B, Morris Colleen A, Klein-Tasman Bonita P, Tam Elaine, Osborne Lucy R, Yuen Ryan K C

Abstract excerpt

BACKGROUND: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifest the ASD phenotype. To assess the contribution of additional genetic variants to the Dup7 phenotype, we conducted...

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Identifiers

PMID: 33407644
DOI: 10.1186/s13023-020-01648-6
PMCID: PMC7788915

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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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