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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016)
Journal Article
Sifrim, A., Hitz, M., Wilsdon, A., Breckpot, J., Turki, S. H. A., Thienpont, B., …Hurles, M. E. (2016). Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nature Genetics, 48(9), 1060-1065. https://doi.org/10.1038/ng.3627

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%. 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) an... Read More about Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.