Publications:

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A high-risk retinoblastoma subtype with stemness features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Nature Communications

Liu, Jing J; Ottaviani, Daniela D; Sefta, Meriem M; Desbrousses, Céline C; Chapeaublanc, Elodie E; Aschero, Rosario R; Sirab, Nanor N; Lubieniecki, Fabiana F; Lamas, Gabriela G; Tonon, Laurie L; Dehainault, Catherine C; Hua, Clément C; Fréneaux, Paul P; Reichman, Sacha S; Karboul, Narjesse N; Biton, Anne A; Mirabal-Ortega, Liliana L; Larcher, Magalie M; Brulard, Céline C; Arrufat, Sandrine S; Nicolas, André A; Elarouci, Nabila N; Popova, Tatiana T; Némati, Fariba F; Decaudin, Didier D; Gentien, David D; Baulande, Sylvain S; Mariani, Odette O; Dufour, Florent F; Guibert, Sylvain S; Vallot, Céline C; Rouic, Livia Lumbroso-Le LL; Matet, Alexandre A; Desjardins, Laurence L; Pascual-Pasto, Guillem G; Suñol, Mariona M; Catala-Mora, Jaume J; Llano, Genoveva Correa GC; Couturier, Jérôme J; Barillot, Emmanuel E; Schaiquevich, Paula P; Gauthier-Villars, Marion M; Stoppa-Lyonnet, Dominique D; Golmard, Lisa L; Houdayer, Claude C; Brisse, Hervé H; Bernard-Pierrot, Isabelle I; Letouzé, Eric E; Viari, Alain A; Saule, Simon S; Sastre-Garau, Xavier X; Doz, François F; Carcaboso, Angel M AM; Cassoux, Nathalie N; Pouponnot, Celio C; Goureau, Olivier O; Chantada, Guillermo G; de Reyniès, Aurélien A; Aerts, Isabelle I; Radvanyi, François F

Publication Date: 2021-09-22

Variant appearance in text: RB1: Q702K

PubMed Link: 34552068

Variant Present in the following documents:

• 41467_2021_25792_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_25792_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: RB1: Q702K

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 20

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: RB1: 2104C>A; Q702K

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging

Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B

Publication Date: 2019-06-29

Variant appearance in text: RB1: 2104C>A

PubMed Link: 31257224

Variant Present in the following documents:

• aging-11-102047-s002.xlsx, sheet 11

View BVdb publication page

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Next-Generation Sequencing-based genomic profiling of brain metastases of primary ovarian cancer identifies high number of BRCA-mutations.

Journal Of Neuro-Oncology

Balendran, S S; Liebmann-Reindl, S S; Berghoff, A S AS; Reischer, T T; Popitsch, N N; Geier, C B CB; Kenner, L L; Birner, P P; Streubel, B B; Preusser, M M

Publication Date: 2017-07

Variant appearance in text: RB1: 2104C>A; Gln702Lys

PubMed Link: 28497333

Variant Present in the following documents:

• Main text
• 11060_2017_Article_2459.pdf

View BVdb publication page

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Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort.

Molecular Vision

Singh, Jaya J; Mishra, Avshesh A; Pandian, Arunachalam Jayamuruga AJ; Mallipatna, Ashwin C AC; Khetan, Vikas V; Sripriya, S S; Kapoor, Suman S; Agarwal, Smita S; Sankaran, Satish S; Katragadda, Shanmukh S; Veeramachaneni, Vamsi V; Hariharan, Ramesh R; Subramanian, Kalyanasundaram K; Mannan, Ashraf U AU

Publication Date: 2016

Variant appearance in text: RB1: 2104C>A; Gln702Lys

PubMed Link: 27582626

Variant Present in the following documents:

• Main text
• mv-v22-1036.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: RB1: 2104C>A; Q702K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: RB1: Q702K

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: RB1: Q702K

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.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: RB1: Q702K

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-4.xlsx, sheet 1

View BVdb publication page

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