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Article

How does genetic variation modify ND-CNV phenotypes?

Trends in genetics : TIG - 1 Feb 2022

Dinneen Thomas J, Ghrálaigh Fiana Ní, Walsh Ruth, Lopez Lorna M, Gallagher Louise

Abstract excerpt

Rare copy-number variants (CNVs) associated with neurodevelopmental disorders (NDDs), i.e., ND-CNVs, provide an insight into the neurobiology of NDDs and, potentially, a link between biology and clinical outcomes. However, ND-CNVs are characterised by incomplete penetrance resulting in heterogeneous carrier phenotypes, ranging from non-affected to multimorbid psychiatric, neurological, and physical phenotypes....

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Identifiers

PMID: 34364706
DOI: 10.1016/j.tig.2021.07.006

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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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