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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Abstract:

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (~2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo proteintruncating variants (PTVs) have been shown to be enriched among the 10% of ‘syndromic’ patients with extra-cardiac manifestations . We exome sequenced 1,891 probands, including both syndrom...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/ng.3627

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Publisher:
Nature Publishing Group Publisher's website
Journal:
Nature Genetics Journal website
Volume:
48
Issue:
9
Pages:
1060-1065
Publication date:
2016-08-05
Acceptance date:
2016-06-24
DOI:
ISSN:
1061-4036 and 1546-1718
Pubs id:
pubs:637275
URN:
uri:4c1e2dbc-4051-43f5-8c93-7389ef90e024
UUID:
uuid:4c1e2dbc-4051-43f5-8c93-7389ef90e024
Local pid:
pubs:637275

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