Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: NOTCH1: L2314P; rs200929799

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: NOTCH1: 6941T>C; Leu2314Pro

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

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The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Oncotarget

Athanasakis, Emmanouil E; Melloni, Elisabetta E; Rigolin, Gian Matteo GM; Agnoletto, Chiara C; Voltan, Rebecca R; Vozzi, Diego D; Piscianz, Elisa E; Segat, Ludovica L; Dal Monego, Simeone S; Cuneo, Antonio A; Secchiero, Paola P; Zauli, Giorgio G

Publication Date: 2014-12-30

Variant appearance in text: NOTCH1: L2314P

PubMed Link: 25587027

Variant Present in the following documents:

• Main text
• oncotarget-05-12635-s001.pdf
• oncotarget-05-12635.pdf

View BVdb publication page