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Genome-wide analysis identifies a role for common copy number variants in specific language impairment.

Abstract:

An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 population controls. Language-impaired cases showed an increased CNV burden in terms of the average number of events (11.28 vs 10.01, empirical P=0.003), the total length of CNVs (717 vs 513 Kb, empirical P=0.0001), the average CNV size (63.75 vs 51.6 Kb, empirical P=0.0005) and the number of genes spa...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/ejhg.2014.296

Authors


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Institution:
University of Oxford
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
Role:
Author
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Max Planck Society More from this funder
European Research Council More from this funder
National Institute for Health Research, Oxford Biomedical Research Centre More from this funder
Publisher:
Nature Publishing Group Publisher's website
Journal:
European journal of human genetics : EJHG Journal website
Volume:
23
Issue:
10
Pages:
1370-1377
Publication date:
2015-10-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:6abd09e5-d5ba-4000-b317-a6ac2dacf2d7
Source identifiers:
503556
Local pid:
pubs:503556
Language:
English
Keywords:

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