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Article

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.

JAMA psychiatry - 1 Feb 2015

Moreno-De-Luca Andres, Evans David W, Boomer K B, Hanson Ellen, Bernier Raphael, Goin-Kochel Robin P, Myers Scott M, Challman Thomas D, Moreno-De-Luca Daniel, Slane Mylissa M, Hare Abby E, Chung Wendy K, Spiro John E, Faucett W Andrew, Martin Christa L, Ledbetter David H

Abstract excerpt

IMPORTANCE: Most disorders caused by copy number variants (CNVs) display significant clinical variability, often referred to as incomplete penetrance and variable expressivity. Genetic and environmental sources of this variability are not well understood. OBJECTIVES: To investigate the contributors to phenotypic variability in probands with CNVs involving the same genomic region; to measure the effect size for de...

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Identifiers

PMID: 25493922
DOI: 10.1001/jamapsychiatry.2014.2147

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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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