Publications:

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)

Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP

Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 1077C>A; Cys359Ter

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

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

Genetic Epidemiology

Helle, Emmi E; Córdova-Palomera, Aldo A; Ojala, Tiina T; Saha, Priyanka P; Potiny, Praneetha P; Gustafsson, Stefan S; Ingelsson, Erik E; Bamshad, Michael M; Nickerson, Deborah D; Chong, Jessica X JX; , ; Ashley, Euan E; Priest, James R JR

Publication Date: 2019-03

Variant appearance in text: NOTCH1: 1077C>A; Cys359Ter

PubMed Link: 30511478

Variant Present in the following documents:

• Main text

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