congenital heart disease; heart development; genetic background; oligogenic inheritance; personalised genomics; exome sequencing; phenotypic heterogeneity; Notch signalling

At the Heart of a Complex Disease `Molecular Genetics of Congenital Heart Disease'

Congenital heart disease (CHD) is the most common type of birth defect and affects almost 1% of the general population. Compared to other rare congenital disorders, CHD rarely shows strictly Mendelian inheritance patterns. Human genetic studies have …