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Article

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.

HGG advances - 18 Jul 2024

Azidane Sara, Gallego Xavier, Durham Lynn, Cáceres Mario, Guney Emre, Pérez-Cano Laura

Abstract excerpt

Copy-number variants (CNVs) are genome-wide structural variations involving the duplication or deletion of large nucleotide sequences. While these types of variations can be commonly found in humans, large and rare CNVs are known to contribute to the development of various neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). Nevertheless, given that these NDD-risk CNVs cover broad...

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Identifiers

PMID: 38850022
DOI: 10.1016/j.xhgg.2024.100316
PMCID: PMC11264174

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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