Association between Microdeletion and Microduplication at 16p11.2 and Autism

20081,697 citationsJournal Articlebronze Open Access

Authors

Lauren A. Weiss · Autism Consortium

Yiping Shen · Harvard University Press

Joshua M. Korn · Harvard University Press

Dan E. Arking · Center for Autism and Related Disorders

David T. Miller · Harvard University Press

Ragnheiður Fossdal · deCODE Genetics (Iceland)

Evald Sæmundsen

Abstract

We have identified a novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases. We did not identify other regions with similar aggregations of large de novo mutations.

Topics & Keywords

Genomic variations and chromosomal abnormalities Autism Spectrum Disorder Research Genetics and Neurodevelopmental Disorders

Publication Details

Published in: New England Journal of Medicine

Volume 358, Issue 7, pp. 667-675

DOI: 10.1056/nejmoa075974

Field-Weighted Citation Impact: 114.37

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Association between Microdeletion and Microduplication at 16p11.2 and Autism

Authors

Abstract

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Publication Details