Publications:

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: A626T; rs747147942

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: RB1: A626T

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families.

The Journal Of Molecular Diagnostics : Jmd

Li, Wenhui L WL; Buckley, Jonathan J; Sanchez-Lara, Pedro A PA; Maglinte, Dennis T DT; Viduetsky, Lucy L; Tatarinova, Tatiana V TV; Aparicio, Jennifer G JG; Kim, Jonathan W JW; Au, Margaret M; Ostrow, Dejerianne D; Lee, Thomas C TC; O'Gorman, Maurice M; Judkins, Alexander A; Cobrinik, David D; Triche, Timothy J TJ

Publication Date: 2016-07

Variant appearance in text: RB1: 1876G>A

PubMed Link: 27155049

Variant Present in the following documents:

• Main text

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