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: 772_776del; Asn258fs

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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NAD+ depletion enhances reovirus-induced oncolysis in multiple myeloma.

Molecular Therapy Oncolytics

Kennedy, Barry E BE; Giacomantonio, Michael M; Murphy, J Patrick JP; Cutler, Samuel S; Sadek, Maryanne M; Konda, Prathyusha P; Paulo, Joao A JA; Pathak, Gopal P GP; Renkens, Saskia H J SHJ; Grieve, Stacy S; Pol, Jonathan J; Gygi, Steven P SP; Richardson, Christopher C; Gaston, Daniel D; Reiman, Anthony A; Kroemer, Guido G; Elnenaei, Manal O MO; Gujar, Shashi A SA

Publication Date: 2022-03-17

Variant appearance in text: RB1: 772_776delAACAG; Asn258fs

PubMed Link: 35284625

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

View BVdb publication page

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The RB1 Mutation Spectrum and Genetic Management Consultation in Pediatric Patients with Retinoblastoma in Beijing, China.

Risk Management And Healthcare Policy

Xie, Ying Y; Xu, Xiao-Lin XL; Wei, Wen-Bin WB

Publication Date: 2021

Variant appearance in text: RB1: 769_773del; N258Efs*11

PubMed Link: 34456592

Variant Present in the following documents:

• Main text
• rmhp-14-3453.pdf

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: 772_776delAACAG; N258Efs*11

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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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: RB1: N258Efs*11

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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: 769_773del

PubMed Link: 27126562

Variant Present in the following documents:

• srep25264-s3.xls, sheet 1

View BVdb publication page

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Alterations in the RB1 gene in Pakistani patients with retinoblastoma using direct sequencing analysis.

Molecular Vision

Kalsoom, Saeeda S; Wasim, Muhammad M; Afzal, Sibtain S; Shahzad, Muhammad Saqib MS; Ramzan, Shaiqa S; Awan, Ali Raza AR; Anjum, Aftab Ahmed AA; Ramzan, Khushnooda K

Publication Date: 2015

Variant appearance in text: RB1: 772_776del; Asn258Glufs*11

PubMed Link: 26396485

Variant Present in the following documents:

• Main text
• mv-v21-1085.pdf

View BVdb publication page

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