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Article

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.

Briefings in functional genomics - 1 Sept 2015

Iyer Janani, Girirajan Santhosh

Abstract excerpt

Rare copy-number variants (CNVs) are a significant cause of neurodevelopmental disorders. The sequence architecture of the human genome predisposes certain individuals to deletions and duplications within specific genomic regions. While assessment of individuals with different breakpoints has identified causal genes for certain rare CNVs, deriving gene-phenotype correlations for rare CNVs with similar breakpoints...

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PMID: 25971441
DOI: 10.1093/bfgp/elv018

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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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