Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal
models and humans have indicated a genetic etiology for CHD. About 400 genes have been …

Abstract Background 22q11. 2 deletion syndrome (22q11DS), a copy number variation
(CNV) disorder, occurs in approximately 1: 4000 live births due to a heterozygous …

The growing availability of human genetic variation has given rise to novel methods of
measuring genetic tolerance that better interpret variants of unknown significance. We …

Considering the application of human genome variation databases in precision medicine,
population‐specific genome projects are continuously being developed. However, the …

Rationale: Familial recurrence studies provide strong evidence for a genetic component to
the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common …

Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary
hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung …

Purpose To identify the economic impact of pediatric patients with clinical indications of
genetic disease (GD) on the US health-care system. Methods Using the 2012 Kids' Inpatient …

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 …

Aberrant left-right patterning in the developing human embryo can lead to a broad spectrum
of congenital malformations. The causes of most laterality defects are not known, with …

Hypoplastic left heart syndrome occurs in up to 3% of all infants born with congenital heart
disease and is a leading cause of death in this population. Although there is strong evidence …