Publications:

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: RB1: Leu199Ter

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_5.pdf

View BVdb publication page

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Targeted mutation detection in breast cancer using MammaSeq™.

Breast Cancer Research : Bcr

Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV

Publication Date: 2019-02-08

Variant appearance in text: RB1: L199*

PubMed Link: 30736836

Variant Present in the following documents:

• 13058_2019_1102_MOESM2_ESM.xlsx, sheet 1

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: 596T>G; L199*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism.

European Journal Of Human Genetics : Ejhg

Amitrano, Sara S; Marozza, Annabella A; Somma, Serena S; Imperatore, Valentina V; Hadjistilianou, Theodora T; De Francesco, Sonia S; Toti, Paolo P; Galimberti, Daniela D; Meloni, Ilaria I; Cetta, Francesco F; Piu, Pietro P; Di Marco, Chiara C; Dosa, Laura L; Lo Rizzo, Caterina C; Carignani, Giulia G; Mencarelli, Maria Antonietta MA; Mari, Francesca F; Renieri, Alessandra A; Ariani, Francesca F

Publication Date: 2015-11

Variant appearance in text: RB1: 596T>G; Leu199*

PubMed Link: 25712084

Variant Present in the following documents:

• Main text

View BVdb publication page

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Human papillomavirus-associated adenocarcinoma of the base of tongue: potentially actionable genetic changes.

Head And Neck Pathology

Chang, Ann Margaret V AM; Nikiforova, Marina N MN; Johnson, Jonas T JT; Bauman, Julie E JE; Perez-Ordonez, Bayardo B; Seethala, Raja R RR; Krane, Jeffrey F JF; Chiosea, Simion I SI

Publication Date: 2014-06

Variant appearance in text: RB1: L199*

PubMed Link: 24258618

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pattern of retinoblastoma pathway inactivation dictates response to CDK4/6 inhibition in GBM.

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

Wiedemeyer, W Ruprecht WR; Dunn, Ian F IF; Quayle, Steven N SN; Zhang, Jianhua J; Chheda, Milan G MG; Dunn, Gavin P GP; Zhuang, Li L; Rosenbluh, Joseph J; Chen, Shujuan S; Xiao, Yonghong Y; Shapiro, Geoffrey I GI; Hahn, William C WC; Chin, Lynda L

Publication Date: 2010-06-22

Variant appearance in text: RB1: L199*

PubMed Link: 20534551

Variant Present in the following documents:

• Main text

View BVdb publication page

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Profiling critical cancer gene mutations in clinical tumor samples.

Plos One

MacConaill, Laura E LE; Campbell, Catarina D CD; Kehoe, Sarah M SM; Bass, Adam J AJ; Hatton, Charles C; Niu, Lili L; Davis, Matt M; Yao, Keluo K; Hanna, Megan M; Mondal, Chandrani C; Luongo, Lauren L; Emery, Caroline M CM; Baker, Alissa C AC; Philips, Juliet J; Goff, Deborah J DJ; Fiorentino, Michelangelo M; Rubin, Mark A MA; Polyak, Kornelia K; Chan, Jennifer J; Wang, Yuexiang Y; Fletcher, Jonathan A JA; Santagata, Sandro S; Corso, Gianni G; Roviello, Franco F; Shivdasani, Ramesh R; Kieran, Mark W MW; Ligon, Keith L KL; Stiles, Charles D CD; Hahn, William C WC; Meyerson, Matthew L ML; Garraway, Levi A LA

Publication Date: 2009-11-18

Variant appearance in text: RB1: L199*

PubMed Link: 19924296

Variant Present in the following documents:

• pone.0007887.s002.xls, sheet 1

View BVdb publication page

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