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: 2054A>T; Asn685Ile

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

View BVdb publication page

The breast pre-cancer atlas illustrates the molecular and micro-environmental diversity of ductal carcinoma in situ.

Npj Breast Cancer

Nachmanson, Daniela D; Officer, Adam A; Mori, Hidetoshi H; Gordon, Jonathan J; Evans, Mark F MF; Steward, Joseph J; Yao, Huazhen H; O'Keefe, Thomas T; Hasteh, Farnaz F; Stein, Gary S GS; Jepsen, Kristen K; Weaver, Donald L DL; Hirst, Gillian L GL; Sprague, Brian L BL; Esserman, Laura J LJ; Borowsky, Alexander D AD; Stein, Janet L JL; Harismendy, Olivier O

Publication Date: 2022-01-13

Variant appearance in text: NOTCH1: 2054A>T; Asn685Ile

PubMed Link: 35027560

Variant Present in the following documents:

• 41523_2021_365_MOESM2_ESM.xlsx, sheet 6

View BVdb publication page