It has been 50 years since Francis Fontan pioneered the operation that today bears his
name. Initially designed for patients with tricuspid atresia, this procedure is now offered for a …

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 …

Rare coding mutations cause∼ 45% of congenital heart disease (CHD). Noncoding
mutations that perturb cis-regulatory elements (CREs) likely contribute to the remaining …

DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a
wide range of genetic determinants. However, a comprehensive analysis of these data, in …

Abstract The Human Developmental Cell Atlas (HDCA) initiative, which is part of the Human
Cell Atlas, aims to create a comprehensive reference map of cells during development. This …

Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …

This review provides an updated summary of the state of our knowledge of the genetic
contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial …

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 …

Background: Neurodevelopmental impairment is common in children with congenital heart
disease (CHD), but postnatal variables explain only 30% of the variance in outcomes. To …

Local genetic correlation quantifies the genetic similarity of complex traits in specific
genomic regions. However, accurate estimation of local genetic correlation remains …