Phase and context shape the function of composite oncogenic mutations.
Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants.
Human Molecular Genetics
Chapman, Gavin G; Moreau, Julie L M JLM; I P, Eddie E; Szot, Justin O JO; Iyer, Kavitha R KR; Shi, Hongjun H; Yam, Michelle X MX; O'Reilly, Victoria C VC; Enriquez, Annabelle A; Greasby, Joelene A JA; Alankarage, Dimuthu D; Martin, Ella M M A EMMA; Hanna, Bernadette C BC; Edwards, Matthew M; Monger, Steven S; Blue, Gillian M GM; Winlaw, David S DS; Ritchie, Helen E HE; Grieve, Stuart M SM; Giannoulatou, Eleni E; Sparrow, Duncan B DB; Dunwoodie, Sally L SL
Publication Date: 2020-03-13
Variant appearance in text: NOTCH1: 2153A>G; N718S
Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL