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Journal article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Abstract:

Rare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogen...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2014.03.018

Authors


Barbosa, M More by this author
Merikangas, A More by this author
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Journal:
American journal of human genetics
Volume:
94
Issue:
5
Pages:
677-694
Publication date:
2014-05-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:dedd395b-d0e8-41f0-bb5d-560bc511596e
Source identifiers:
463141
Local pid:
pubs:463141

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