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Article

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

American journal of medical genetics. Part A - 1 Nov 2016

Steinman Kyle J, Spence Sarah J, Ramocki Melissa B, Proud Monica B, Kessler Sudha K, Marco Elysa J, Green Snyder LeeAnne, D'Angelo Debra, Chen Qixuan, Chung Wendy K, Sherr Elliott H

Abstract excerpt

Chromosome 16p11.2 deletions and duplications are among the most frequent genetic etiologies of autism spectrum disorder (ASD) and other neurodevelopmental disorders, but detailed descriptions of their neurologic phenotypes have not yet been completed. We utilized standardized examination and history methods to characterize a neurologic phenotype in 136 carriers of 16p11.2 deletion and 110 carriers of 16p11.2...

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Identifiers

PMID: 27410714
DOI: 10.1002/ajmg.a.37820

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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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