| http://purl.uniprot.org/citations/27479907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27479907 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/27479907 | http://www.w3.org/2000/01/rdf-schema#comment | "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 protein-truncating 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 syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.3627"xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.3627"xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Bhattacharya S."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Bhattacharya S."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "FitzPatrick D.R."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "FitzPatrick D.R."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Hurles M.E."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Hurles M.E."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Parker M.J."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Parker M.J."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Williams D."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Williams D."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Wright M."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Wright M."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Berger F."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Berger F."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Barrett J.C."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Barrett J.C."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Moore C."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Moore C."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Devriendt K."xsd:string |
| http://purl.uniprot.org/citations/27479907 | http://purl.uniprot.org/core/author | "Devriendt K."xsd:string |