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: R1627H; rs946083212

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Polymorphism of VDR Gene and the Sensitivity of Human Leukemia and Lymphoma Cells to Active Forms of Vitamin D.

Cancers

Gleba, Justyna Joanna JJ; Kłopotowska, Dagmara D; Banach, Joanna J; Turlej, Eliza E; Mielko, Karolina Anna KA; Gębura, Katarzyna K; Bogunia-Kubik, Katarzyna K; Kutner, Andrzej A; Wietrzyk, Joanna J

Publication Date: 2022-01-13

Variant appearance in text: NOTCH1: 4880G>A; Arg1627His

PubMed Link: 35053549

Variant Present in the following documents:

• Main text
• cancers-14-00387.pdf

View BVdb publication page

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Polymorphism of VDR Gene and the Sensitivity of Human Leukemia and Lymphoma Cells to Active Forms of Vitamin D.

Cancers

Gleba, Justyna Joanna JJ; Kłopotowska, Dagmara D; Banach, Joanna J; Turlej, Eliza E; Mielko, Karolina Anna KA; Gębura, Katarzyna K; Bogunia-Kubik, Katarzyna K; Kutner, Andrzej A; Wietrzyk, Joanna J

Publication Date: 2022-01-13

Variant appearance in text: NOTCH1: 4880G>A; Arg1627His

PubMed Link: 35053549

Variant Present in the following documents:

• Main text
• cancers-14-00387.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: NOTCH1: R1627H

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications

Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W

Publication Date: 2019-11-07

Variant appearance in text: NOTCH1: 4880G>A; Arg1627Gln

PubMed Link: 31700061

Variant Present in the following documents:

• 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

American Journal Of Human Genetics

Ceyhan-Birsoy, Ozge O; Murry, Jaclyn B JB; Machini, Kalotina K; Lebo, Matthew S MS; Yu, Timothy W TW; Fayer, Shawn S; Genetti, Casie A CA; Schwartz, Talia S TS; Agrawal, Pankaj B PB; Parad, Richard B RB; Holm, Ingrid A IA; McGuire, Amy L AL; Green, Robert C RC; Rehm, Heidi L HL; Beggs, Alan H AH; ,

Publication Date: 2019-01-03

Variant appearance in text: NOTCH1: 4880G>A; Arg1627His

PubMed Link: 30609409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: NOTCH1: R1627H

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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