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: V205I; rs770100636

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: RB1: 613G>A; V205M

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: RB1: 613G>A; V205I

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Genomic landscape of metastatic papillary thyroid carcinoma and novel biomarkers for predicting distant metastasis.

Cancer Science

Lan, Xiabin X; Bao, Hua H; Ge, Xinyang X; Cao, Jun J; Fan, Xiaojun X; Zhang, Qihong Q; Liu, Kaihua K; Zhang, Xian X; Tan, Zhuo Z; Zheng, Chuanming C; Wang, Ao A; Chen, Chao C; Zhu, Xin X; Wang, Jiafeng J; Xu, Jiajie J; Zhu, Xuhang X; Wu, Xue X; Wang, Xiaonan X; Shao, Yang Y; Ge, Minghua M

Publication Date: 2020-06

Variant appearance in text: RB1: V205I

PubMed Link: 32187423

Variant Present in the following documents:

• CAS-111-2163-s007.xlsx, sheet 1

View BVdb publication page