Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a
common class of congenital birth defects that are associated with significant morbidity and …

Congenital heart disease is a major cause of morbidity and mortality throughout life.
Mutations in numerous transcription factors have been identified in patients and families with …

Copy number variants (CNVs) play an important role in human disease and population
diversity. Advancements in technology have allowed for the analysis of CNVs in thousands …

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect. We explore
“hot topics” to highlight areas of emerging science for clinicians and scientists in moving …

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of
malformation at birth and represent the cause of 40–50% of pediatric and 7% of adult end …

Heart malformations are common congenital defects in humans. Many congenital heart
defects involve anomalies in cardiac septation or valve development, and understanding the …

Background Few studies have described the neuropsychological outcomes and frequency
of structural brain or genetic abnormalities in adolescents with single ventricle who …

Bicuspid aortic valve (BAV) is the most common adult congenital heart defect and is found in
0.5% to 2.0% of the general population. The term “BAV” refers to a heterogeneous group of …

The duplication architecture of the human genome predisposes our species to recurrent
copy number variation and disease. Emerging data suggest that this mechanism of mutation …

Human copy number variants (CNVs) account for genome variation an order of magnitude
larger than single-nucleotide polymorphisms. Although much of this variation has no …