The intent of this review is to provide the clinician with a summary of what is currently known
about the contribution of genetics to the origin of congenital heart disease. Techniques are …

We present a database of copy number variations (CNVs) detected in 2026 disease-free
individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, …

Congenital heart disease (CHD) is the most common major birth defect, but little is known
about its cause. Both environmental and genetic factors have been implicated. The genetic …

Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births
1 . Many cases occur sporadically and impair reproductive fitness, suggesting a role for de …

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

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–…

Objectives. This study was designed to determine the frequency of 22q11 deletions in a large,
prospectively ascertained sample of patients with conotruncal defects and to evaluate the …

We have studied 92 patients with Alagille syndrome (AGS) to determine the frequency of
clinical manifestations and to correlate the clinical findings with outcome. Liver biopsy …

A submicroscopic deletion of chromosome 22q11. 2 has been identified in the majority of
patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in …

Background Despite current therapies, diffuse cutaneous systemic sclerosis (scleroderma)
often has a devastating outcome. We compared myeloablative CD34+ selected autologous …