Genetic factors undoubtedly affect the development of congenital heart disease (CHD) but
still remain ill defined. We sought to identify genetic risk factors associated with CHD and to …

Introduction: Congenital heart disease (CHD) is the most common birth defect in humans. In
spite of tremendous advance in medical care, CHD is still a major contributor to substantial …

Purpose To determine disease-associated single-gene variants in conotruncal defects,
particularly tetralogy of Fallot (TOF). Methods We analyzed for rare loss-of-function and …

Congenital heart disease (CHD) is the most common class of major malformations in
humans. The historical association with large chromosomal abnormalities foreshadowed the …

Rationale: Dextro-transposition of the great arteries (D-TGA) is a severe congenital heart
defect which affects approximately 1 in 4,000 live births. While there are several reports of D …

Congenital heart defects (CHD) are developmental malformations affecting the heart and the
great vessels. Early heart development requires temporally regulated crosstalk between …

Recent genome-wide studies of rare genetic variants have begun to implicate novel
mechanisms for tetralogy of Fallot (TOF), a severe congenital heart defect (CHD). To provide …

The effectiveness of next generation sequencing at solving genetic disease has motivated
the rapid adoption of this technology into clinical practice around the world. In this study, we …

Purpose The present study aims to evaluate the utility of high-resolution single-nucleotide
polymorphism (SNP) arrays in fetuses with ventricular septal defects (VSDs) with or without …

Atrioventricular septal defect (AVSD) is a deleterious subtype of congenital heart diseases
(CHD) characterized by atrioventricular canal defect. The pathogenic genetic changes of …