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: NOTCH1: S836N; rs747068023

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of novel prognostic and predictive biomarkers in salivary duct carcinoma via comprehensive molecular profiling.

Npj Precision Oncology

Kohsaka, Shinji S; Tada, Yuichiro Y; Ando, Mizuo M; Nakaguro, Masato M; Shirai, Yukina Y; Ueno, Toshihide T; Kojima, Shinya S; Hirai, Hideaki H; Saigusa, Natsuki N; Kano, Satoshi S; Tsukahara, Kiyoaki K; Togashi, Takafumi T; Ozawa, Hiroyuki H; Kondo, Takahito T; Okami, Kenji K; Takahashi, Hideaki H; Kawakita, Daisuke D; Fushimi, Chihiro C; Suzuki, Takayoshi T; Shimizu, Akira A; Okamoto, Isaku I; Okada, Takuro T; Sato, Yuichiro Y; Imanishi, Yorihisa Y; Watanabe, Yoshihiro Y; Sakai, Akihiro A; Ebisumoto, Koji K; Sato, Yukiko Y; Urano, Makoto M; Honma, Yoshitaka Y; Yamazaki, Keisuke K; Ueki, Yushi Y; Hanazawa, Toyoyuki T; Saito, Yuki Y; Shimura, Tomotaka T; Nagao, Toshitaka T; Mano, Hiroyuki H

Publication Date: 2022-11-04

Variant appearance in text: NOTCH1: Ser836Asn

PubMed Link: 36333410

Variant Present in the following documents:

• 41698_2022_324_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: NOTCH1: S836N

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology

Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A

Publication Date: 2022-02

Variant appearance in text: NOTCH1: 2507G>A

PubMed Link: 34494161

Variant Present in the following documents:

• 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
• 428_2021_3186_MOESM21_ESM.xlsx, sheet 1

View BVdb publication page

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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: NOTCH1: 2507G>A; Ser836Asn

PubMed Link: 30981987

Variant Present in the following documents:

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

View BVdb publication page

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Mutation allele frequency threshold does not affect prognostic analysis using next-generation sequencing in oral squamous cell carcinoma.

Bmc Cancer

Ma, Jie J; Fu, Yong Y; Tu, Yao-Yao YY; Liu, Ying Y; Tan, Yi-Ran YR; Ju, Wu-Tong WT; Pickering, Curtis R CR; Myers, Jeffrey N JN; Zhang, Zhi-Yuan ZY; Zhong, Lai-Ping LP

Publication Date: 2018-07-24

Variant appearance in text: NOTCH1: Ser836Asn

PubMed Link: 30041611

Variant Present in the following documents:

• Main text
• 12885_2018_Article_4481.pdf

View BVdb publication page

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