Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RB1: P786S; rs754507551

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: RB1: P786S

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s006.xlsx, sheet 2
• PATH-259-56-s004.xlsx, sheet 2

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: RB1: P786S; rs754507551

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Scientific Reports

Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM

Publication Date: 2021-09-27

Variant appearance in text: RB1: 2356C>T; Pro786Ser; rs754507551

PubMed Link: 34580349

Variant Present in the following documents:

• 41598_2021_98414_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Integrated digital pathology and transcriptome analysis identifies molecular mediators of T-cell exclusion in ovarian cancer.

Nature Communications

Desbois, Mélanie M; Udyavar, Akshata R AR; Ryner, Lisa L; Kozlowski, Cleopatra C; Guan, Yinghui Y; Dürrbaum, Milena M; Lu, Shan S; Fortin, Jean-Philippe JP; Koeppen, Hartmut H; Ziai, James J; Chang, Ching-Wei CW; Keerthivasan, Shilpa S; Plante, Marie M; Bourgon, Richard R; Bais, Carlos C; Hegde, Priti P; Daemen, Anneleen A; Turley, Shannon S; Wang, Yulei Y

Publication Date: 2020-11-04

Variant appearance in text: RB1: Pro786Ser

PubMed Link: 33149148

Variant Present in the following documents:

• 41467_2020_19408_MOESM8_ESM.xlsx, sheet 10

View BVdb publication page

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Mutations of the MAPK/TSC/mTOR pathway characterize periventricular glioblastoma with epithelioid SEGA-like morphology-morphological and therapeutic implications.

Oncotarget

Georgescu, Maria-Magdalena MM; Li, Yan Y; Islam, Mohammad Zahidul MZ; Notarianni, Christina C; Sun, Hai H; Olar, Adriana A; Fuller, Gregory N GN

Publication Date: 2019-06-18

Variant appearance in text: RB1: 2356C>T

PubMed Link: 31258848

Variant Present in the following documents:

• oncotarget-10-4038-s001.pdf

View BVdb publication page

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: RB1: P786S

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 3

View BVdb publication page

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