Publications:

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Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine

Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X

Publication Date: 2023-03-27

Variant appearance in text: IDH1: 623A>G; Y208C

PubMed Link: 36971051

Variant Present in the following documents:

• CAM4-12-10267-s001.xlsx, sheet 1

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Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ

Publication Date: 2022-12-06

Variant appearance in text: IDH1: 623A>G; Y208C

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.xlsx, sheet 1

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Sequence-structure functional implications and molecular simulation of high deleterious nonsynonymous substitutions in IDH1 revealed the mechanism of drug resistance in glioma.

Frontiers In Pharmacology

Suleman, Muhammad M; Umme-I-Hani, Syeda S; Salman, Muhammad M; Aljuaid, Mohammed M; Khan, Abbas A; Iqbal, Arshad A; Hussain, Zahid Z; Ali, Syed Shujait SS; Ali, Liaqat L; Sher, Hassan H; Waheed, Yasir Y; Wei, Dong-Qing DQ

Publication Date: 2022

Variant appearance in text: IDH1: Y208C

PubMed Link: 36188571

Variant Present in the following documents:

• Main text
• fphar-13-927570.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: IDH1: Y208C

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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ASXL1 mutations accelerate bone marrow fibrosis via EGR1-TNFA axis mediated neoplastic fibrocyte generation in myeloproliferative neoplasms.

Haematologica

Shi, Zhongxun Z; Liu, Jinqin J; Zhao, Yingying Y; Yang, Lin L; Cai, Yanan Y; Zhang, Peihong P; Xu, Zefeng Z; Qin, Tiejun T; Qu, Shiqiang S; Pan, Lijuan L; Wu, Junying J; Yan, Xin X; Li, Zexing Z; Zhang, Wenjun W; Yan, Yiru Y; Huang, Huijun H; Huang, Gang G; Li, Bing B; Wu, Xudong X; Xiao, Zhijian Z

Publication Date: 2022-08-25

Variant appearance in text: IDH1: Y208C

PubMed Link: 36005555

Variant Present in the following documents:

• 2021_280320_SHI_SUPPL.pdf

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: IDH1: 623A>G; Tyr208Cys

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Bmc Medical Genomics

Sobahy, Turki M TM; Tashkandi, Ghassan G; Bahussain, Donya D; Al-Harbi, Raneem R

Publication Date: 2022-04-25

Variant appearance in text: IDH1: 623A>G

PubMed Link: 35468810

Variant Present in the following documents:

• 12920_2022_1235_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine

Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X

Publication Date: 2022-04

Variant appearance in text: IDH1: Y208C

PubMed Link: 35415904

Variant Present in the following documents:

• CTM2-12-e808-s003.xlsx, sheet 2

View BVdb publication page

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Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Frontiers In Genetics

Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X

Publication Date: 2021

Variant appearance in text: IDH1: 623A>G; Y208C

PubMed Link: 34925435

Variant Present in the following documents:

• DataSheet2.xlsx, sheet 1

View BVdb publication page

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[Syngeneic hematopoietic stem cell transplantation for aplastic anemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Zhang, Y Y; Yang, D L DL; Zhang, R L RL; Zhai, W H WH; Pang, A M AM; He, Y Y; Jiang, E L EL; Feng, S Z SZ; Han, M Z MZ

Publication Date: 2021-06-14

Variant appearance in text: IDH1: Y208C

PubMed Link: 34384153

Variant Present in the following documents:

• cjh-42-06-474.pdf

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Next-Generation Sequencing Enhances the Diagnosis Efficiency in Thyroid Nodules.

Frontiers In Oncology

Tan, Li-Cheng LC; Liu, Wan-Lin WL; Zhu, Xiao-Li XL; Yu, Peng-Cheng PC; Shi, Xiao X; Han, Pei-Zhen PZ; Zhang, Ling L; Lin, Liang-Yu LY; Semenov, Arseny A; Wang, Yu Y; Ji, Qing-Hai QH; Ji, Dong-Mei DM; Wang, Yu-Long YL; Qu, Ning N

Publication Date: 2021

Variant appearance in text: IDH1: Tyr208Cys

PubMed Link: 34322384

Variant Present in the following documents:

• Main text
• fonc-11-677892.pdf

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Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan-cancer analysis.

Molecular Genetics & Genomic Medicine

Shen, Dong D; Zhang, Junling J; Yuan, Kai K; Zhao, Jing J; Zhao, Zhengyi Z; Cui, Longgang L; Zhang, Yuzi Y; Wang, Guoqiang G; Cai, Shangli S; Bai, Yuezong Y; Li, Wei W; Huang, Xiang X

Publication Date: 2021-08

Variant appearance in text: IDH1: Y208C

PubMed Link: 34145795

Variant Present in the following documents:

• Main text
• MGG3-9-e1697.pdf

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Landscape of IDH1/2 mutations in Chinese patients with solid tumors: A pan-cancer analysis.

Molecular Genetics & Genomic Medicine

Shen, Dong D; Zhang, Junling J; Yuan, Kai K; Zhao, Jing J; Zhao, Zhengyi Z; Cui, Longgang L; Zhang, Yuzi Y; Wang, Guoqiang G; Cai, Shangli S; Bai, Yuezong Y; Li, Wei W; Huang, Xiang X

Publication Date: 2021-08

Variant appearance in text: IDH1: Y208C

PubMed Link: 34145795

Variant Present in the following documents:

• Main text
• MGG3-9-e1697.pdf

View BVdb publication page

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Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology

Li, Peifeng P; Chai, Jia J; Chen, Zi Z; Liu, Yang Y; Wei, Jie J; Liu, Yixiong Y; Zhao, Danhui D; Ma, Jing J; Wang, Kaijing K; Li, Xia X; Shao, Yang Y; Gong, Li L; Zhang, Wei W; Guo, Shuangping S; Yan, Qingguo Q; Li, Mingyang M; Fan, Linni L; Wang, Zhe Z

Publication Date: 2021

Variant appearance in text: IDH1: Y208C

PubMed Link: 33747936

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 2

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: IDH1: Y208C

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications

Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK

Publication Date: 2020-11-10

Variant appearance in text: IDH1: Y208C

PubMed Link: 33172502

Variant Present in the following documents:

• 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Novel canine isocitrate dehydrogenase 1 mutation Y208C attenuates dimerization ability.

Oncology Letters

Kawakami, Shota S; Michishita, Masaki M; Sakaue, Motoharu M; Morimatsu, Masami M; Uemura, Mitsuki M; Kashiwagi, Nobuaki N; Maeda, Marika M; Machida, Yukino Y; Azakami, Daigo D; Egusa, Ai S AS; Onozawa, Eri E; Ishioka, Katsumi K; Watanabe, Masami M; Tanaka, Yoshikazu Y; Omi, Toshinori T; Ochiai, Kazuhiko K

Publication Date: 2020-12

Variant appearance in text: IDH1: Y208C; rs186787509

PubMed Link: 33123262

Variant Present in the following documents:

• Main text
• ol-20-06-12214.pdf

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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: IDH1: Y208C

PubMed Link: 31851786

Variant Present in the following documents:

• CAM4-9-1628-s002.xlsx, sheet 1

View BVdb publication page

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[Targeted sequencing analysis of hyper-eosinophilic syndrome and chronic eosinophilic leukemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Qu, S Q SQ; Qin, T J TJ; Xu, Z F ZF; Zhang, Y Y; Jia, Y J YJ; Ai, X F XF; Zhang, H L HL; Fang, L W LW; Hu, N B NB; Pan, L J LJ; Li, B B; Liu, J Q JQ; Ru, K K; Xiao, Z J ZJ

Publication Date: 2018-06-14

Variant appearance in text: IDH1: Y208C

PubMed Link: 30032569

Variant Present in the following documents:

• Main text
• cjh-39-06-501.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: IDH1: Y208C

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 2

View BVdb publication page

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Family-based whole exome sequencing of atopic dermatitis complicated with cataracts.

Oncotarget

Luo, Wenxin W; Xu, Wangdong W; Xia, Lin L; Xie, Dan D; Wang, Lin L; Guo, Zaipei Z; Cheng, Yue Y; Liu, Yi Y; Li, Weimin W

Publication Date: 2017-08-29

Variant appearance in text: rs186787509

PubMed Link: 28938649

Variant Present in the following documents:

• Main text
• oncotarget-08-59446.pdf

View BVdb publication page

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