Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: RB1: 1789C>T; Gln597Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Human papillomavirus-related neoplasia of the ocular adnexa.

Acta Ophthalmologica

Ramberg, Ingvild Margrethe Sellaeg IMS

Publication Date: 2022-10

Variant appearance in text: RB1: Q597*

PubMed Link: 36203222

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: RB1: 1789C>T; Q597*

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine

Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT

Publication Date: 2022-06-03

Variant appearance in text: RB1: 1789C>T; Gln597X

PubMed Link: 35655252

Variant Present in the following documents:

• 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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A Custom DNA-Based NGS Panel for the Molecular Characterization of Patients With Diffuse Gliomas: Diagnostic and Therapeutic Applications.

Frontiers In Oncology

Tirrò, Elena E; Massimino, Michele M; Broggi, Giuseppe G; Romano, Chiara C; Minasi, Simone S; Gianno, Francesca F; Antonelli, Manila M; Motta, Gianmarco G; Certo, Francesco F; Altieri, Roberto R; Manzella, Livia L; Caltabiano, Rosario R; Barbagallo, Giuseppe Maria Vincenzo GMV; Buttarelli, Francesca Romana FR; Magro, Gaetano G; Giangaspero, Felice F; Vigneri, Paolo P

Publication Date: 2022

Variant appearance in text: RB1: Gln597Ter

PubMed Link: 35372034

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.

Plos One

Williams, Gareth G; Llewelyn, Alexander A; Thatcher, Robert R; Hardisty, Keeda-Marie KM; Loddo, Marco M

Publication Date: 2022

Variant appearance in text: RB1: 1789C>T; Gln597Ter

PubMed Link: 35324914

Variant Present in the following documents:

• pone.0245817.s005.pdf

View BVdb publication page

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Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Investigative Ophthalmology & Visual Science

Ramberg, Ingvild I; Vieira, Filipe Garrett FG; Toft, Peter Bjerre PB; von Buchwald, Christian C; Funding, Mikkel M; Nielsen, Finn Cilius FC; Heegaard, Steffen S

Publication Date: 2021-11-01

Variant appearance in text: RB1: Q597*

PubMed Link: 34779821

Variant Present in the following documents:

• Main text
• iovs-62-14-11.pdf

View BVdb publication page

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Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Harms, Paul W PW; Verhaegen, Monique E ME; Hu, Kevin K; Hrycaj, Steven M SM; Chan, May P MP; Liu, Chia-Jen CJ; Grachtchouk, Marina M; Patel, Rajiv M RM; Udager, Aaron M AM; Dlugosz, Andrzej A AA

Publication Date: 2022-04

Variant appearance in text: RB1: Q597X

PubMed Link: 34593967

Variant Present in the following documents:

• NIHMS1739265-supplement-Supplemental_Figures.pdf
• NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 4

View BVdb publication page

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Retinoblastoma genetics screening and clinical management.

Bmc Medical Genomics

Gupta, Himika H; Malaichamy, Sivasankar S; Mallipatna, Ashwin A; Murugan, Sakthivel S; Jeyabalan, Nallathambi N; Suresh Babu, Vishnu V; Ghosh, Anuprita A; Ghosh, Arkasubhra A; Santhosh, Sam S; Seshagiri, Somasekar S; Ramprasad, Vedam L VL; Kumaramanickavel, Govindasamy G

Publication Date: 2021-07-22

Variant appearance in text: RB1: 1789C>T

PubMed Link: 34294096

Variant Present in the following documents:

• 12920_2021_Article_1034.pdf

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: RB1: Q597*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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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: RB1: 1789C>T; Q597*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.

Academic Pathology

Nasrallah, MacLean P MP; Binder, Zev A ZA; Oldridge, Derek A DA; Zhao, Jianhua J; Lieberman, David B DB; Roth, Jacquelyn J JJ; Watt, Christopher D CD; Sukhadia, Shrey S; Klinman, Eva E; Daber, Robert D RD; Desai, Arati A; Brem, Steven S; O'Rourke, Donald M DM; Morrissette, Jennifer J D JJD

Publication Date: 2019

Variant appearance in text: RB1: Q597*

PubMed Link: 31206012

Variant Present in the following documents:

• Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Somatic mutations in salivary duct carcinoma and potential therapeutic targets.

Oncotarget

Khoo, Timothy K TK; Yu, Bing B; Smith, Joel A JA; Clarke, Angus J AJ; Luk, Peter P PP; Selinger, Christina I CI; Mahon, Kate L KL; Kraitsek, Spiridoula S; Palme, Carsten C; Boyer, Michael J MJ; Dinger, Marcel E ME; Cowley, Mark J MJ; O'Toole, Sandra A SA; Clark, Jonathan R JR; Gupta, Ruta R

Publication Date: 2017-09-29

Variant appearance in text: RB1: 1789C>T

PubMed Link: 29100278

Variant Present in the following documents:

View BVdb publication page

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Rare Tumor Clinic: The University of California San Diego Moores Cancer Center Experience with a Precision Therapy Approach.

The Oncologist

Kato, Shumei S; Kurasaki, Kellie K; Ikeda, Sadakatsu S; Kurzrock, Razelle R

Publication Date: 2018-02

Variant appearance in text: RB1: Q597*

PubMed Link: 29038235

Variant Present in the following documents:

• supp_the2017-0199_onco12285-sup-0001-suppinfo01.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: 1789C>T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.

Scientific Reports

Kooi, Irsan E IE; Mol, Berber M BM; Massink, Maarten P G MP; Ameziane, Najim N; Meijers-Heijboer, Hanne H; Dommering, Charlotte J CJ; van Mil, Saskia E SE; de Vries, Yne Y; van der Hout, Annemarie H AH; Kaspers, Gertjan J L GJ; Moll, Annette C AC; Te Riele, Hein H; Cloos, Jacqueline J; Dorsman, Josephine C JC

Publication Date: 2016-04-29

Variant appearance in text: RB1: Q597X

PubMed Link: 27126562

Variant Present in the following documents:

• srep25264-s3.xls, sheet 1

View BVdb publication page

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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: RB1: Q597X

PubMed Link: 26010451

Variant Present in the following documents:

• pone.0127146.s013.xlsx, sheet 3
• pone.0127146.s014.xlsx, sheet 3

View BVdb publication page

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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer

Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB

Publication Date: 2015-04-14

Variant appearance in text: RB1: 1789C>T; Gln597Ter

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

View BVdb publication page

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Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

The Journal Of Experimental Medicine

Fabbri, Giulia G; Khiabanian, Hossein H; Holmes, Antony B AB; Wang, Jiguang J; Messina, Monica M; Mullighan, Charles G CG; Pasqualucci, Laura L; Rabadan, Raul R; Dalla-Favera, Riccardo R

Publication Date: 2013-10-21

Variant appearance in text: RB1: Q597*

PubMed Link: 24127483

Variant Present in the following documents:

• supp_jem.20131448_JEM_20131448_TableS2.xlsx, sheet 1

View BVdb publication page

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