Publications:

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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: 34T>C; C12R

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: ATM: 34T>C; C12R

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: ATM: Cys12Arg

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

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Effects of Co-occurring Genomic Alterations on Outcomes in Patients with KRAS-Mutant Non-Small Cell Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Arbour, Kathryn C KC; Jordan, Emmett E; Kim, Hyunjae Ryan HR; Dienstag, Jordan J; Yu, Helena A HA; Sanchez-Vega, Francisco F; Lito, Piro P; Berger, Michael M; Solit, David B DB; Hellmann, Matthew M; Kris, Mark G MG; Rudin, Charles M CM; Ni, Ai A; Arcila, Maria M; Ladanyi, Marc M; Riely, Gregory J GJ

Publication Date: 2018-01-15

Variant appearance in text: ATM: C12R

PubMed Link: 29089357

Variant Present in the following documents:

• Main text

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Molecular strategies for targeting antioxidants to mitochondria: therapeutic implications.

Antioxidants & Redox Signaling

Apostolova, Nadezda N; Victor, Victor M VM

Publication Date: 2015-03-10

Variant appearance in text: ATM: C12R

PubMed Link: 25546574

Variant Present in the following documents:

• Main text

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Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

European Journal Of Human Genetics : Ejhg

Cavalieri, Simona S; Pozzi, Elisa E; Gatti, Richard A RA; Brusco, Alfredo A

Publication Date: 2013-07

Variant appearance in text: ATM: c12R

PubMed Link: 23211698

Variant Present in the following documents:

• Main text

View BVdb publication page

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