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: 1847C>T; Thr616Ile

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies.

Mediterranean Journal Of Hematology And Infectious Diseases

Atli, Emine Ikbal EI; Gurkan, Hakan H; Atli, Engin E; Kirkizlar, Hakki Onur HO; Yalcintepe, Sinem S; Demir, Selma S; Demirci, Ufuk U; Eker, Damla D; Mail, Cisem C; Kalkan, Rasime R; Demir, Ahmet Muzaffer AM

Publication Date: 2021

Variant appearance in text: ATM: 1847C>T

PubMed Link: 33489052

Variant Present in the following documents:

• mjhid-13-1-e2021013.pdf

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Multiplatform molecular profiling identifies potentially targetable biomarkers in malignant phyllodes tumors of the breast.

Oncotarget

Gatalica, Zoran Z; Vranic, Semir S; Ghazalpour, Anatole A; Xiu, Joanne J; Ocal, Idris Tolgay IT; McGill, John J; Bender, Ryan P RP; Discianno, Erin E; Schlum, Aaron A; Sanati, Souzan S; Palazzo, Juan J; Reddy, Sandeep S; Pockaj, Barbara B

Publication Date: 2016-01-12

Variant appearance in text: ATM: T616I

PubMed Link: 26625196

Variant Present in the following documents:

• Main text
• oncotarget-07-1707.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: T616I

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page