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: 1869C>A; Asn623Lys
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Frontiers In Genetics
Manshaei, Roozbeh R; Merico, Daniele D; Reuter, Miriam S MS; Engchuan, Worrawat W; Mojarad, Bahareh A BA; Chaturvedi, Rajiv R; Heung, Tracy T; Pellecchia, Giovanna G; Zarrei, Mehdi M; Nalpathamkalam, Thomas T; Khan, Reem R; Okello, John B A JBA; Liston, Eriskay E; Curtis, Meredith M; Yuen, Ryan K C RKC; Marshall, Christian R CR; Jobling, Rebekah K RK; Oechslin, Erwin E; Wald, Rachel M RM; Silversides, Candice K CK; Scherer, Stephen W SW; Kim, Raymond H RH; Bassett, Anne S AS