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: JAK2: L892V; rs201551707

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1
• mmc4.xlsx, sheet 1

View BVdb publication page

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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: JAK2: L892V

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Frontiers In Endocrinology

Ma, Xiaosen X; Ling, Chao C; Zhao, Meng M; Wang, Fen F; Cui, Yunying Y; Wen, Jin J; Ji, Zhigang Z; Zhang, Caili C; Chen, Shi S; Tong, Anli A; Li, Yuxiu Y

Publication Date: 2022

Variant appearance in text: JAK2: L892V; rs201551707

PubMed Link: 35966080

Variant Present in the following documents:

• Table_1.xlsx, sheet 5

View BVdb publication page

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Description of longitudinal tumor evolution in a case of multiply relapsed clear cell sarcoma of the kidney.

Cancer Reports (Hoboken, N.J.)

Yaguchi, Tomoki T; Kimura, Shunsuke S; Sekiguchi, Masahiro M; Kubota, Yasuo Y; Seki, Masafumi M; Yoshida, Kenichi K; Shiraishi, Yuichi Y; Kataoka, Keisuke K; Fujii, Yoichi Y; Watanabe, Kentaro K; Hiwatari, Mitsuteru M; Miyano, Satoru S; Ogawa, Seishi S; Takita, Junko J

Publication Date: 2022-02

Variant appearance in text: JAK2: L892V

PubMed Link: 34967151

Variant Present in the following documents:

• Main text
• CNR2-5-e1458.pdf

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Integration of transcriptomic data identifies key hallmark genes in hypertrophic cardiomyopathy.

Bmc Cardiovascular Disorders

Xu, Jing J; Liu, Xiangdong X; Dai, Qiming Q

Publication Date: 2021-07-06

Variant appearance in text: JAK2: L892V; rs201551707

PubMed Link: 34225646

Variant Present in the following documents:

• Main text
• 12872_2021_Article_2147.pdf

View BVdb publication page

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Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Scientific Reports

Vinayanuwattikun, Chanida C; Le Calvez-Kelm, Florence F; Abedi-Ardekani, Behnoush B; Zaridze, David D; Mukeria, Anush A; Voegele, Catherine C; Vallée, Maxime M; Purnomosari, Dewajani D; Forey, Nathalie N; Durand, Geoffroy G; Byrnes, Graham G; Mckay, James J; Brennan, Paul P; Scelo, Ghislaine G

Publication Date: 2016-08-22

Variant appearance in text: JAK2: L892V

PubMed Link: 27545006

Variant Present in the following documents:

• srep31628-s2.xls, sheet 2

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: JAK2: L892V

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 1

View BVdb publication page

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