Publications:

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Development and evaluation of ActSeq: A targeted next-generation sequencing panel for clinical oncology use.

Plos One

Shi, Zonggao Z; Lopez, Jacqueline J; Kalliney, William W; Sutton, Bobbie B; Simpson, Joyce J; Maggert, Kevin K; Liu, Sheng S; Wan, Jun J; Stack, M Sharon MS

Publication Date: 2022

Variant appearance in text: ATM: V613L

PubMed Link: 35446881

Variant Present in the following documents:

• Main text
• pone.0266914.pdf

View BVdb publication page

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Sensitivity of cells to ATR and CHK1 inhibitors requires hyperactivation of CDK2 rather than endogenous replication stress or ATM dysfunction.

Scientific Reports

Ditano, Jennifer P JP; Donahue, Katelyn L KL; Tafe, Laura J LJ; McCleery, Charlotte F CF; Eastman, Alan A

Publication Date: 2021-03-29

Variant appearance in text: ATM: V613L

PubMed Link: 33782497

Variant Present in the following documents:

• Main text
• 41598_2021_Article_86490.pdf
• 41598_2021_86490_MOESM1_ESM.pdf
• 41598_2021_86490_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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IGLV3-21 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Maity, Palash C PC; Bilal, Mayas M; Koning, Marvyn T MT; Young, Marc M; van Bergen, Cornelis A M CAM; Renna, Valerio V; Nicolò, Antonella A; Datta, Moumita M; Gentner-Göbel, Eva E; Barendse, Rob S RS; Somers, Sebastiaan F SF; de Groen, Ruben A L RAL; Vermaat, Joost S P JSP; Steinbrecher, Daniela D; Schneider, Christof C; Tausch, Eugen E; Bittolo, Tamara T; Bomben, Riccardo R; Mazzarello, Andrea Nicola AN; Del Poeta, Giovanni G; Kroes, Wilma G M WGM; van Wezel, J Tom JT; Imkeller, Katharina K; Busse, Christian E CE; Degano, Massimo M; Bakchoul, Tamam T; Schulz, Axel Ronald AR; Mei, Henrik H; Ghia, Paolo P; Kotta, Konstantia K; Stamatopoulos, Kostas K; Wardemann, Hedda H; Zucchetto, Antonella A; Chiorazzi, Nicholas N; Gattei, Valter V; Stilgenbauer, Stephan S; Veelken, Hendrik H; Jumaa, Hassan H

Publication Date: 2020-02-25

Variant appearance in text: ATM: V613L

PubMed Link: 32047037

Variant Present in the following documents:

• pnas.1913810117.sapp.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: ATM: Val613Leu

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: ATM: V613L

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s13.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: ATM: V613L

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: ATM: V613L

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: ATM: V613L

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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