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 is the most common birth defect, and because of major advances
in medical and surgical management, there are now more adults living with congenital heart …

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 …

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between
genotype and phenotype, making possible carrier and population screening and direct …

Aside from inheriting half of the genome of each of our parents, we are born with a small
number of novel mutations that occurred during gametogenesis and postzygotically. Recent …

Congenital heart disease (CHD) patients have an increased prevalence of extracardiac
congenital anomalies (CAs) and risk of neurodevelopmental disabilities (NDDs). Exome …

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …

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 …

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 …

Complex genetic mechanisms are thought to underlie many human diseases, yet
experimental proof of this model has been elusive. Here, we show that a human cardiac …