Publications:

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Clinical exome-based panel testing for medically actionable secondary findings in a cohort of 383 Italian participants.

Frontiers In Genetics

Martone, Stefania S; Buonagura, Autilia Tommasina AT; Marra, Roberta R; Rosato, Barbara Eleni BE; Del Giudice, Federica F; Bonfiglio, Ferdinando F; Capasso, Mario M; Iolascon, Achille A; Andolfo, Immacolata I; Russo, Roberta R

Publication Date: 2022

Variant appearance in text: RB1: R262W; rs556201144

PubMed Link: 36437915

Variant Present in the following documents:

• Table3.xlsx, sheet 1

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: 784C>T; R262W

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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Post-radiation circulating tumor DNA as a prognostic factor in locally advanced esophageal squamous cell carcinoma.

Oncology Letters

Jia, Ru R; Zhao, Chuan-Hua CH; Li, Pan-Song PS; Liu, Rong-Rui RR; Zhang, Yun Y; Chen, Hai-E HE; Chang, Lian-Peng LP; Gong, Yu-Hua YH; Guan, Yan-Fang YF; Yi, Xin X; Xu, Jian-Ming JM

Publication Date: 2021-01

Variant appearance in text: RB1: 784C>T; R262W

PubMed Link: 33365079

Variant Present in the following documents:

• Supplementary_Data3.xlsx, sheet 1

View BVdb publication page

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Somatic mutations and copy number variations in breast cancers with heterogeneous HER2 amplification.

Molecular Oncology

Van Bockstal, Mieke R MR; Agahozo, Marie Colombe MC; van Marion, Ronald R; Atmodimedjo, Peggy N PN; Sleddens, Hein F B M HFBM; Dinjens, Winand N M WNM; Visser, Lindy L LL; Lips, Esther H EH; Wesseling, Jelle J; van Deurzen, Carolien H M CHM

Publication Date: 2020-04

Variant appearance in text: RB1: 784C>T; R262W

PubMed Link: 32058674

Variant Present in the following documents:

• Main text
• MOL2-14-671.pdf
• MOL2-14-671-s006.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: RB1: 784C>T; R262W; rs556201144

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM8_ESM.xls, sheet 1
• 12920_2020_668_MOESM7_ESM.xls, sheet 1

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: RB1: 784C>T; R262W

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain.

Leukemia

Sinclair, Paul B PB; Ryan, Sarra S; Bashton, Matthew M; Hollern, Shaun S; Hanna, Rebecca R; Case, Marian M; Schwalbe, Edward C EC; Schwab, Claire J CJ; Cranston, Ruth E RE; Young, Brian D BD; Irving, Julie A E JAE; Vora, Ajay J AJ; Moorman, Anthony V AV; Harrison, Christine J CJ

Publication Date: 2019-08

Variant appearance in text: RB1: R262W

PubMed Link: 30816328

Variant Present in the following documents:

• Main text
• 41375_2019_Article_412.pdf

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: RB1: 784C>T; Arg262Trp

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 2

View BVdb publication page

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: RB1: R262W

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

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Genomic and molecular characterization of esophageal squamous cell carcinoma.

Nature Genetics

Lin, De-Chen DC; Hao, Jia-Jie JJ; Nagata, Yasunobu Y; Xu, Liang L; Shang, Li L; Meng, Xuan X; Sato, Yusuke Y; Okuno, Yusuke Y; Varela, Ana Maria AM; Ding, Ling-Wen LW; Garg, Manoj M; Liu, Li-Zhen LZ; Yang, Henry H; Yin, Dong D; Shi, Zhi-Zhou ZZ; Jiang, Yan-Yi YY; Gu, Wen-Yue WY; Gong, Ting T; Zhang, Yu Y; Xu, Xin X; Kalid, Ori O; Shacham, Sharon S; Ogawa, Seishi S; Wang, Ming-Rong MR; Koeffler, H Phillip HP

Publication Date: 2014-05

Variant appearance in text: RB1: R262W

PubMed Link: 24686850

Variant Present in the following documents:

• NIHMS573166-supplement-9.xlsx, sheet 9

View BVdb publication page

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