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: 227G>A; Arg76Lys

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: R76K

PubMed Link: 32461694

Variant Present in the following documents:

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

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American Society of Pediatric Hematology/Oncology (ASPHO), David L. Lawrence Convention Center, Pittsburgh, PA, May 2-5, 2018.

Pediatric Blood & Cancer

Publication Date: 2018-06

Variant appearance in text: ATM: 227G>A

PubMed Link: 29603868

Variant Present in the following documents:

• Main text
• PBC-65-e27057.pdf

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Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.

Nucleic Acids Research

Limbo, Oliver O; Moiani, Davide D; Kertokalio, Aryandi A; Wyman, Claire C; Tainer, John A JA; Russell, Paul P

Publication Date: 2012-12

Variant appearance in text: ATM: R76K

PubMed Link: 23080121

Variant Present in the following documents:

• Main text
• gks954.pdf

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