Publications:

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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: TSC2: Glu1490Gly

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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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: TSC2: E1490G

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Somatic Mutation Profiles Revealed by Next Generation Sequencing (NGS) in 39 Chinese Hepatocellular Carcinoma Patients.

Frontiers In Molecular Biosciences

Ke, Lixin L; Shen, Jianming J; Feng, Jikun J; Chen, Jialin J; Shen, Shunli S; Li, Shaoqiang S; Kuang, Ming M; Liang, Lijian L; Lu, Cuncun C; Li, Dongming D; He, Qiang Q; Peng, Baogang B; Hua, Yunpeng Y

Publication Date: 2021

Variant appearance in text: TSC2: E1490G

PubMed Link: 35118119

Variant Present in the following documents:

• Main text
• fmolb-08-800679.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: TSC2: E1490G; rs759882146

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology

Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X

Publication Date: 2021

Variant appearance in text: TSC2: 4469A>G; E1490G

PubMed Link: 35087742

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: TSC2: 4469A>G; E1490G

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.

Clinical Orthopaedics And Related Research

Min, Byung-Joo BJ; Kang, Yong Koo YK; Chung, Yang-Guk YG; Seo, Myung-Eui ME; Chang, Ki Bong KB; Joo, Min Wook MW

Publication Date: 2020-11

Variant appearance in text: TSC2: 4469A>G

PubMed Link: 32281771

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging

Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N

Publication Date: 2020-02-24

Variant appearance in text: TSC2: 4469A>G; Glu1490Gly; rs759882146

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

View BVdb publication page

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Genetic characteristics of non-familial epilepsy.

Peerj

Kang, Kyung Wook KW; Kim, Wonkuk W; Cho, Yong Won YW; Lee, Sang Kun SK; Jung, Ki-Young KY; Shin, Wonchul W; Kim, Dong Wook DW; Kim, Won-Joo WJ; Lee, Hyang Woon HW; Kim, Woojun W; Kim, Keuntae K; Lee, So-Hyun SH; Choi, Seok-Yong SY; Kim, Myeong-Kyu MK

Publication Date: 2019

Variant appearance in text: TSC2: Glu1490Gly

PubMed Link: 31875159

Variant Present in the following documents:

• Main text
• peerj-07-8278.pdf
• peerj-07-8278-s002.xlsx, sheet 1

View BVdb publication page

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YAP1 amplification as a prognostic factor of definitive chemoradiotherapy in nonsurgical esophageal squamous cell carcinoma.

Cancer Medicine

Dai, Honghai H; Shao, Yang W YW; Tong, Xiaoling X; Wu, Xue X; Pang, Jiaohui J; Feng, Alei A; Yang, Zhe Z

Publication Date: 2020-03

Variant appearance in text: TSC2: E1490G

PubMed Link: 31851786

Variant Present in the following documents:

• CAM4-9-1628-s002.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TSC2: 4469A>G; E1490G

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: TSC2: E1490G; rs759882146

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: TSC2: E1490G

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

View BVdb publication page

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