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Atrio-ventricular septal defects (AVSD) are a specific form of congenital heart structural defect that result from abnormal or inadequate fusion of endocardial cushions during cardiac development. This project is focused on identifying rare coding variation that substantially increases risk of AVSD, by exome sequencing of AVSD patients and some of their family members, and comparing to control datasets from other sources.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000799 Illumina HiSeq 2000 95
Publications Citations
Rare variants in NR2F2 cause congenital heart defects in humans.
Am J Hum Genet 94: 2014 574-585
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Nat Genet 48: 2016 1060-1065