Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

TitleLoss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Publication TypeJournal Article
AuthorsHelle, E, Córdova-Palomera, A, Ojala, T, Saha, P, Potiny, P, Gustafsson, S, Ingelsson, E, Bamshad, M, Nickerson, D, Chong, JX, Ashley, E, Priest, JR
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics
PubMed ID30511478
Grant ListK99HL130523 / GF / NIH HHS / United States
/ / Thrasher Research Fund /
/ / The Finnish Medical Foundation /
/ / Biomedicum Foundation /
/ / Finnish Foundation for Cardiovascular Research /
/ / Orion Research Foundation /
HG006493 / / National Human Genome Research Institute and the National Heart, Lung and Blood Institute /
/ / Finnish Foundation for Pediatric Research /
R00 HL130523 / HL / NHLBI NIH HHS / United States