All Outputs (2)

CORRELATION OF CLINICAL AND MOLECULAR FEATURES IN MYOTONIC DYSTROPHY TYPE 1 (2016)
Journal Article

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016)
Journal Article

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%. Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (~2.7%), suggesting a considerable role for de novo mutations (DNMs) an... Read More about Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.