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: 1466G>A; Cys489Tyr

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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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: C489Y; rs1131690877

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Personalised selection of experimental treatment in patients with advanced solid cancer is feasible using whole-genome sequencing.

British Journal Of Cancer

Pruis, Melinda A MA; Groenendijk, Floris H FH; Badloe, K Sangeeta KS; van Puffelen, Andrea A; Robbrecht, Debbie D; Dinjens, Winand N M WNM; Sleijfer, Stefan S; Dingemans, Anne-Marie C AC; von der Thüsen, Jan H JH; Roepman, Paul P; Lolkema, Martijn P MP

Publication Date: 2022-09

Variant appearance in text: RB1: 1466G>A; Cys489Tyr

PubMed Link: 35606463

Variant Present in the following documents:

• 41416_2022_1841_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: RB1: C489Y

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Clinical and molecular characteristics of Chinese non-small cell lung cancer patients with ERBB2 transmembrane domain mutations.

Molecular Oncology

Fan, Yun Y; Qiu, Jinrong J; Yu, Ruoying R; Cao, Ran R; Chen, Xiaoxi X; Ou, Qiuxiang Q; Wu, Xue X; Shao, Yang W YW; Nagasaka, Misako M; Zhang, Jiexia J; Ou, Sai-Hong Ignatius SI

Publication Date: 2020-08

Variant appearance in text: RB1: 1466G>A; C489Y

PubMed Link: 32478891

Variant Present in the following documents:

• MOL2-14-1731-s002.xlsx, sheet 1

View BVdb publication page

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Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling.

Plos One

Tomar, Swati S; Sethi, Raman R; Sundar, Gangadhara G; Quah, Thuan Chong TC; Quah, Boon Long BL; Lai, Poh San PS

Publication Date: 2017

Variant appearance in text: RB1: 1466G>A; Cys489Tyr

PubMed Link: 28575107

Variant Present in the following documents:

• Main text
• pone.0178776.pdf

View BVdb publication page

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