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: ATM: T86I; rs755326770

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 257C>T; Thr86Ile; rs755326770

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Prognostic signature and clonality pattern of recurrently mutated genes in inactive chronic lymphocytic leukemia.

Blood Cancer Journal

Hurtado, A M AM; Chen-Liang, T-H TH; Przychodzen, B B; Hamedi, C C; Muñoz-Ballester, J J; Dienes, B B; García-Malo, M D MD; Antón, A I AI; de Arriba, F F; Teruel-Montoya, R R; Ortuño, F J FJ; Vicente, V V; Maciejewski, J P JP; Jerez, A A

Publication Date: 2015-08-28

Variant appearance in text: ATM: T86I

PubMed Link: 26314984

Variant Present in the following documents:

• bcj201565x1.xls, sheet 1

View BVdb publication page