NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy.

Zain DardasJawid M FatihAngad JollyMoez DawoodHaowei DuChristopher M GrochowskiEdward G JonesShalini N JhangianiXander H T WehrensPengfei LiuWeimin BiEric BoerwinkleJennifer E PoseyDonna M MuznyRichard A GibbsJames R. Lupski Zeynep C Akdemir Shaine Alaine Morris

Published in: Genome medicine (2024)

Our data further support a role for rare deleterious variants in NODAL as a cause for sporadic human laterality defects, expand the repertoire of observed anatomical complexity of potential cardiovascular anomalies, and implicate an allele specific gene dosage model.

Keyphrases

copy number
endothelial cells
lymph node
neoadjuvant chemotherapy
genome wide
late onset
electronic health record
induced pluripotent stem cells
big data
machine learning
blood flow
early onset