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Article

Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus.

Autism research : official journal of the International Society for Autism Research - 1 Dec 2023

O'Hora Kathleen P, Kushan-Wells Leila, Schleifer Charles H, Cruz Shayne, Hoftman Gil D, Jalbrzikowski Maria, Gur Raquel E, Gur Ruben C, Bearden Carrie E

Abstract excerpt

Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers...

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PMID: 37997544
DOI: 10.1002/aur.3049
PMCID: PMC10872774

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