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: NF1: V2205A; rs1316036089

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction.

Nature Communications

Lin, Yuan Y; Luo, Yingying Y; Sun, Yanxia Y; Guo, Wenjia W; Zhao, Xuan X; Xi, Yiyi Y; Ma, Yuling Y; Shao, Mingming M; Tan, Wen W; Gao, Ge G; Wu, Chen C; Lin, Dongxin D

Publication Date: 2020-11-30

Variant appearance in text: NF1: V2205A

PubMed Link: 33257699

Variant Present in the following documents:

• 41467_2020_19949_MOESM10_ESM.xlsx, sheet 1

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: NF1: 6614T>C; Val2205Ala

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

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MEK inhibitors overcome resistance to BET inhibition across a number of solid and hematologic cancers.

Oncogenesis

Wyce, Anastasia A; Matteo, Jeanne J JJ; Foley, Shawn W SW; Felitsky, Daniel J DJ; Rajapurkar, Satyajit R SR; Zhang, Xi-Ping XP; Musso, Melissa C MC; Korenchuk, Susan S; Karpinich, Natalie O NO; Keenan, Kathryn M KM; Stern, Melissa M; Mathew, Lijoy K LK; McHugh, Charles F CF; McCabe, Michael T MT; Tummino, Peter J PJ; Kruger, Ryan G RG; Carpenter, Christopher C; Barbash, Olena O

Publication Date: 2018-04-20

Variant appearance in text: NF1: V2205A

PubMed Link: 29674704

Variant Present in the following documents:

• Main text
• 41389_2018_43_MOESM5_ESM.pdf
• 41389_2018_Article_43.pdf

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: NF1: 6614T>C

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1
• NIHMS958974-supplement-5.xlsx, sheet 1

View BVdb publication page