Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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 …
exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent …
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
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 …
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …
Genomic analyses implicate noncoding de novo variants in congenital heart disease
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 …
with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution …
Genomic frontiers in congenital heart disease
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 …
increasingly providing new insights into the causes and mechanisms of this prevalent birth …
[HTML][HTML] De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes
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 …
enrichment in damaging de novo variants in chromatin-modifying genes. To test the …
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Congenital heart disease (CHD) patients have an increased prevalence of extracardiac
congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome …
congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome …
[HTML][HTML] De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
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 …
common birth defect. Although the genetic contribution to the CHD has been long …
[HTML][HTML] Molecular genetics and complex inheritance of congenital heart disease
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 …
leading cause of mortality therein. Genetic etiologies contribute to an estimated 90% of CHD …
Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease
Background: Many genes have been implicated in the development of congenital heart
disease (CHD). Next-generation sequencing offers opportunities for genetic testing but is …
disease (CHD). Next-generation sequencing offers opportunities for genetic testing but is …
Advances in the genetics of congenital heart disease: a clinician's guide
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 …
however, many questions, particularly those relating to sporadic forms of disease, remain …