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: 5218G>T; Ala1740Ser; rs864622062

PubMed Link: 35288444

Variant Present in the following documents:

• heartjnl-2021-320428supp001.pdf

View BVdb publication page

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Human Mutation

Meester, Josephina A N JAN; Sukalo, Maja M; Schröder, Kim C KC; Schanze, Denny D; Baynam, Gareth G; Borck, Guntram G; Bramswig, Nuria C NC; Duman, Duygu D; Gilbert-Dussardier, Brigitte B; Holder-Espinasse, Muriel M; Itin, Peter P; Johnson, Diana S DS; Joss, Shelagh S; Koillinen, Hannele H; McKenzie, Fiona F; Morton, Jenny J; Nelle, Heike H; Reardon, Willie W; Roll, Claudia C; Salih, Mustafa A MA; Savarirayan, Ravi R; Scurr, Ingrid I; Splitt, Miranda M; Thompson, Elizabeth E; Titheradge, Hannah H; Travers, Colm P CP; Van Maldergem, Lionel L; Whiteford, Margo M; Wieczorek, Dagmar D; Vandeweyer, Geert G; Trembath, Richard R; Van Laer, Lut L; Loeys, Bart L BL; Zenker, Martin M; Southgate, Laura L; Wuyts, Wim W

Publication Date: 2018-09

Variant appearance in text: NOTCH1: 5218G>T; Ala1740Ser

PubMed Link: 29924900

Variant Present in the following documents:

• HUMU-39-1246-s001.pdf

View BVdb publication page

EOGT and O-GlcNAc on secreted and membrane proteins.

Biochemical Society Transactions

Varshney, Shweta S; Stanley, Pamela P

Publication Date: 2017-04-15

Variant appearance in text: NOTCH1: A1740S

PubMed Link: 28408480

Variant Present in the following documents:

• Main text

View BVdb publication page

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Circulation. Cardiovascular Genetics

Southgate, Laura L; Sukalo, Maja M; Karountzos, Anastasios S V ASV; Taylor, Edward J EJ; Collinson, Claire S CS; Ruddy, Deborah D; Snape, Katie M KM; Dallapiccola, Bruno B; Tolmie, John L JL; Joss, Shelagh S; Brancati, Francesco F; Digilio, M Cristina MC; Graul-Neumann, Luitgard M LM; Salviati, Leonardo L; Coerdt, Wiltrud W; Jacquemin, Emmanuel E; Wuyts, Wim W; Zenker, Martin M; Machado, Rajiv D RD; Trembath, Richard C RC

Publication Date: 2015-08

Variant appearance in text: NOTCH1: A1740S

PubMed Link: 25963545

Variant Present in the following documents:

• Main text

View BVdb publication page