Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%(refs.,). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …

Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here,
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …

A genetic etiology is identified for one-third of patients with congenital heart disease (CHD),
with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution …

Previous studies have shown that copy-number variants (CNVs) contribute to the risk of
complex developmental phenotypes. However, the contribution of global CNV burden to the …

Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying
three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient …

Congenital heart disease (CHD) is the most common congenital malformation and the
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …

Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding;
however, many questions, particularly those relating to sporadic forms of disease, remain …

Background Congenital heart disease (CHD) affects~ 1% of live births and is the most
common birth defect. Although the genetic contribution to the CHD has been long …

The genetic architecture of sporadic congenital heart disease (CHD) is characterized by
enrichment in damaging de novo variants in chromatin-modifying genes. To test the …

The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …