Publications:

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: 3993G>T; Q1331H

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9

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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

Publication Date: 2020-06

Variant appearance in text: ATM: Q1331H

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Genomic analysis of exceptional responders to radiotherapy reveals somatic mutations in ATM.

Oncotarget

Ma, Jennifer J; Setton, Jeremy J; Morris, Luc L; Albornoz, Pedro Blecua Carrillo PB; Barker, Christopher C; Lok, Benjamin H BH; Sherman, Eric E; Katabi, Nora N; Beal, Kathryn K; Ganly, Ian I; Powell, Simon N SN; Lee, Nancy N; Chan, Timothy A TA; Riaz, Nadeem N

Publication Date: 2017-02-07

Variant appearance in text: ATM: Q1331H

PubMed Link: 28055970

Variant Present in the following documents:

• Main text
• oncotarget-08-10312.pdf

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Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.

Plos One

Betge, Johannes J; Kerr, Grainne G; Miersch, Thilo T; Leible, Svenja S; Erdmann, Gerrit G; Galata, Christian L CL; Zhan, Tianzuo T; Gaiser, Timo T; Post, Stefan S; Ebert, Matthias P MP; Horisberger, Karoline K; Boutros, Michael M

Publication Date: 2015

Variant appearance in text: ATM: Q1331H

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s013.xlsx, sheet 3
• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page