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Article

Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2023

Taylor Cora M, Finucane Brenda M, Moreno-De-Luca Andres, Walsh Lauren K, Martin Christa Lese, Ledbetter David H

Abstract excerpt

PURPOSE: Recurrent 16p11.2 duplications produce a wide range of clinical outcomes with varying effects on cognition and social functioning. Family-based studies of copy number variants (CNVs) have revealed significant contributions of genomic background on variable expressivity. In this study, we measured the phenotypic effect of 16p11.2 duplications and quantified the modulating effect of familial background on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36609147
DOI: 10.1016/j.gim.2022.09.011
PMCID: PMC10068678

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