Publications:

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: KLRC1: H115P

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: KLRC1: 344A>C; His115Pro

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Haematologica

Wang, Xiaoxiao X; Su, Wenru W; Gao, Yan Y; Feng, Yanfen Y; Wang, Xiaoxia X; Chen, Xiaoqing X; Hu, Yunwei Y; Ma, Yutong Y; Ou, Qiuxiang Q; Liang, Dan D; Huang, Huiqiang H

Publication Date: 2022-09-01

Variant appearance in text: KLRC1: 344A>C; H115P

PubMed Link: 35142151

Variant Present in the following documents:

• 2021_279908_WANG_TABS3.xlsx, sheet 1

View BVdb publication page

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Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia

Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G

Publication Date: 2021-10

Variant appearance in text: KLRC1: H115P

PubMed Link: 34193978

Variant Present in the following documents:

• 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers.

Npj Breast Cancer

De Mattos-Arruda, Leticia L; Cortes, Javier J; Blanco-Heredia, Juan J; Tiezzi, Daniel G DG; Villacampa, Guillermo G; Gonçalves-Ribeiro, Samuel S; Paré, Laia L; Souza, Carla Anjos CA; Ortega, Vanesa V; Sammut, Stephen-John SJ; Cusco, Pol P; Fasani, Roberta R; Chin, Suet-Feung SF; Perez-Garcia, Jose J; Dienstmann, Rodrigo R; Nuciforo, Paolo P; Villagrasa, Patricia P; Rubio, Isabel T IT; Prat, Aleix A; Caldas, Carlos C

Publication Date: 2021-06-07

Variant appearance in text: KLRC1: H115P

PubMed Link: 34099718

Variant Present in the following documents:

• 41523_2021_282_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

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

Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R

Publication Date: 2021-06-01

Variant appearance in text: KLRC1: H115P

PubMed Link: 34050029

Variant Present in the following documents:

• pnas.2104504118.sd02.xlsx, sheet 1

View BVdb publication page

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Experimental and bioinformatics considerations in cancer application of single cell genomics.

Computational And Structural Biotechnology Journal

Tan, Joanna Hui Juan JHJ; Kong, Say Li SL; Tai, Joyce A JA; Poh, Huay Mei HM; Yao, Fei F; Sia, Yee Yen YY; Lim, Edwin Kok Hao EKH; Takano, Angela Maria AM; Tan, Daniel Shao-Weng DS; Javed, Asif A; Hillmer, Axel M AM

Publication Date: 2021

Variant appearance in text: KLRC1: H115P

PubMed Link: 33489004

Variant Present in the following documents:

• mmc4.xlsx, sheet 12
• mmc3.xlsx, sheet 12

View BVdb publication page

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Gene-Gene Interaction Analysis for the Survival Phenotype Based on the Kaplan-Meier Median Estimate.

Biomed Research International

Park, Mira M; Lee, Jung Wun JW; Park, Taesung T; Lee, SeungYeoun S

Publication Date: 2020

Variant appearance in text: rs760718931

PubMed Link: 32461998

Variant Present in the following documents:

• Main text
• BMRI2020-5282345.pdf

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: KLRC1: 344A>C; His115Pro

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 21
• pone.0210079.s007.xlsx, sheet 18
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 3
• pone.0210079.s007.xlsx, sheet 22
• pone.0210079.s007.xlsx, sheet 20

View BVdb publication page

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Functional genomic landscape of acute myeloid leukaemia.

Nature

Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ

Publication Date: 2018-10

Variant appearance in text: KLRC1: 344A>C; H115P; rs760718931

PubMed Link: 30333627

Variant Present in the following documents:

• NIHMS1504008-supplement-Supplementary_Tables_S1-S22.xlsx, sheet 16

View BVdb publication page

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