Publications:

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Clinical and Genetic Characteristics of Alagille Syndrome in Adults.

Journal Of Clinical And Translational Hepatology

Li, Jianguo J; Wu, Haicong H; Chen, Shuru S; Pang, Jiahui J; Wang, Heping H; Li, Xinhua X; Gan, Weiqiang W

Publication Date: 2023-02-28

Variant appearance in text: NOTCH2: 2042T>A; I681N

PubMed Link: 36406308

Variant Present in the following documents:

• Main text
• JCTH-11-156.pdf

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: NOTCH2: I681N

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports

Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O

Publication Date: 2021-07-20

Variant appearance in text: NOTCH2: I681N

PubMed Link: 34285288

Variant Present in the following documents:

• 41598_2021_94292_MOESM1_ESM.xlsx, sheet 6

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: NOTCH2: I681N; rs74882029

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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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: NOTCH2: 2042T>A; I681N

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

View BVdb publication page

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: NOTCH2: I681N; rs74882029

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

View BVdb publication page

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Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: NOTCH2: I681N

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

View BVdb publication page

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Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma.

Scientific Reports

Chow, Yock Ping YP; Tan, Lu Ping LP; Chai, San Jiun SJ; Abdul Aziz, Norazlin N; Choo, Siew Woh SW; Lim, Paul Vey Hong PV; Pathmanathan, Rajadurai R; Mohd Kornain, Noor Kaslina NK; Lum, Chee Lun CL; Pua, Kin Choo KC; Yap, Yoke Yeow YY; Tan, Tee Yong TY; Teo, Soo Hwang SH; Khoo, Alan Soo-Beng AS; Patel, Vyomesh V

Publication Date: 2017-03-03

Variant appearance in text: NOTCH2: I681N

PubMed Link: 28256603

Variant Present in the following documents:

• srep42980-s2.xls, sheet 7

View BVdb publication page

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Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Nature Communications

Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW

Publication Date: 2017-01-18

Variant appearance in text: NOTCH2: I681N

PubMed Link: 28098136

Variant Present in the following documents:

• ncomms14121-s9.xlsx, sheet 1

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: NOTCH2: I681N

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: NOTCH2: I681N; rs74882029

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: NOTCH2: I681N; rs74882029

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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NOTCH2 mutations in Alagille syndrome.

Journal Of Medical Genetics

Kamath, Binita Maya BM; Bauer, Robert C RC; Loomes, Kathleen M KM; Chao, Grace G; Gerfen, Jennifer J; Hutchinson, Anne A; Hardikar, Winita W; Hirschfield, Gideon G; Jara, Paloma P; Krantz, Ian D ID; Lapunzina, Pablo P; Leonard, Laura L; Ling, Simon S; Ng, Vicky Lee VL; Hoang, Phuc Le PL; Piccoli, David A DA; Spinner, Nancy Bettina NB

Publication Date: 2012-02

Variant appearance in text: NOTCH2: Ile681Asn

PubMed Link: 22209762

Variant Present in the following documents:

• Main text

View BVdb publication page

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