Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis.

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Abstract

Autism is one of the most heritable complex disorders, but the genetic etiology of autism spectrum disorders is unexplained in ∼ 90% of cases. Highly penetrant microdeletions and microduplications of 16p11.2 contribute to the pathogenesis of autism spectrum disorder, but the extent to which these variants account for the total burden of idiopathic autism spectrum disorders has not been systematically investigated.

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Journal

Journal ID (iso-abbrev): Genet Med

Title: Genetics in medicine : official journal of the American College of Medical Genetics

Publisher: Ovid Technologies (Wolters Kluwer Health)

ISSN (Electronic): 1530-0366

ISSN (Print): 1098-3600

Publication date (Electronic): May 2011

Volume: 13

Issue: 5

Affiliations

[1 ] Center for Perinatal Pediatric and Environmental Epidemiology, Yale School of Public Health, New Haven, Connecticut, USA. kyle.walsh@yale.edu

Article

Publisher Item ID: S1098-3600(21)04780-8

DOI: 10.1097/GIM.0b013e3182076c0c

PubMed ID: 21289514

SO-VID: 82c4e01e-9024-4b2c-98ea-96cc64ce6bed

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