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Jian‐Min Chen

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55H-index
356Paper Count
1.1WCitation Count
Published Papers 124
Publication Date
When splicing is not all or none: GT>GC 5′ splice-site variants as a model for intermediate effects and challenges in variant classification
err2026-04-02
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errJin-Huan Lin; Hao Wu; Xin-Ying Tang; Emmanuelle Masson; Peter D. Stenson; Andrew D. Phillips; David N. Cooper; Claude Férec; Zhuan Liao; Wen-Bin Zou; Jian-Min Chen
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Compound Heterozygous Complete Loss-of-Function SPINK1 Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency
errGenes
IF2.8
err2026-03-03
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errOAAI
errEmmanuelle Masson; Marc Wangermez; David Tougeron; Vinciane Rebours; Claude Férec; Jian-Min Chen
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DNA Methylation of FAM50B/PTCHD3 Mediates the Relationships between Low Blood Lead Exposure and Neurobehavioral Development of 0-3 Aged Infants: A Prospective Birth Cohort Study in Southern China
err2025-12-01
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PREAI
errWan, Cong; Ma, Huimin; Zeng, Xiaowen; Dong, Guanghui; Chen, Jian; You, Jing; Cheng, Fei; Luo, Yuan; Jones, Kevin C.; Zhang, Gan; Yu, Zhiqiang; Peng, Ping'an
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TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice
err2025-11-17
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errAtsushi Masamune; Emmanuelle Masson; Wen-Bin Zou; Agnieszka Magdalena Rygiel; Sudipta Dhar Chowdhury; Kazuhiro Kikuta; Hidehiro Hayashi; Akira Sasaki; Hitomi Nakasuji; Ryotaro Matsumoto; Tetsuya Takikawa; Yan Xu; Ren Jie; Yasumasa Sekino; Toshiaki Abe; Waku Hatta; Tetsuya Niihori; Yoko Aoki; Reiko Sakaguchi; Yasuo Mori; Vinciane Rebours; Louis Buscail; Yuan-Chen Wang; Reuben Thomas Kurien; Sandhya S. Visweswariah; Jonas Rosendahl; Claude Ferec; Grzegorz Oracz; Heiko Witt; Zhuan Liao; Jian-Min Chen; Shin Hamada
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Development of an artificial intelligence-based early diagnostic system for light-chain amyloidosis
err2025-11-13
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errWei Yan; Jian Chen; Tao He; Haoze Xu; Jianmin Chen; Xiaoyu Liu; Liye Zhong; Yan Li; Chunyan Sun; Xiaobo Wang; Li Gao; Fengyan Jin; Bingzong Li; Chunrui Li; Yingyou Wen; Zhuo Chen; Boheng Liu; Jian Li; Huihan Wang
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Early postpancreatectomy hemorrhage: is an update of the ISGPS definition required?
err2025-11-03
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errOAAI
errGao, Yong; Wang, Yazhou; Dai, Yuran; Zhang, Kai; Yan, Han; Lu, Zipeng; Chen, Jianmin; Guo, Feng; Xi, Chunhua; Gao, Wentao; Wu, Junli; Jiang, Kuirong; Miao, Yi; Wei, Jishu
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SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges
err2025-08-21
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PREAI
errYuan-Chen Wang; Emmanuelle Masson; Qi-Wen Wang; Emmanuelle Génin; Gérald Le Gac; Yann Fichou; David N. Cooper; Zhuan Liao; Claude Férec; Wen-Bin Zou; Jian-Min Chen
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Genetics and clinical implications of SPINK1 in the pancreatitis continuum and pancreatic cancer
err2025-03-26
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errOAAI
errWang, Qi-Wen; Zou, Wen-Bin; Masson, Emmanuelle; Ferec, Claude; Liao, Zhuan; Chen, Jian-Min
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Carboxyl ester lipase hybrid 1 (CEL-HYB1) haplotypes confer varying risk for chronic pancreatitis
err2024-12-28
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errOAAI
errBerke, Gergo; Sandor, Mate; Xiao, Xunjun K.; Lowe, Mark E.; Ewers, Maren; Eross, Balint; Masson, Emmanuelle; Nemeth, Balazs Csaba; Vincze, Aron; Czako, Laszlo; Rygiel, Agnieszka Magdalena; Rosendahl, Jonas; Chen, Jian-Min; Witt, Heiko; Hegyi, Peter; Sahin-Toth, Miklos; Hegyi, Eszter
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Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism
err2024-10-01
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PREAI
errMasson, Emmanuelle; Maestri, Sandrine; Bordeau, Valerie; Cooper, David N.; Ferec, Claude; Chen, Jian-Min
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Oncology education initiatives at Taiwan Oncology Society (TOS)
err2024-10-01
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PREAI
errHsu, C.; Chen, W.; Chang, W.; Chen, J.
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Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants
err2024-04-01
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errOAAI
errHu, Yuepeng; Chen, Jian-Min; Zuo, Han; Pu, Na; Zhang, Guofu; Duan, Yichen; Li, Gang; Tong, Zhihui; Li, Weiqin; Li, Baiqiang; Yang, Qi
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Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
err2024-02-27
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errOAAI
errWu, Hao; Lin, Jin-Huan; Tang, Xin-Ying; Marenne, Gaelle; Zou, Wen-Bin; Schutz, Sacha; Masson, Emmanuelle; Genin, Emmanuelle; Fichou, Yann; Le Gac, Gerald; Ferec, Claude; Liao, Zhuan; Chen, Jian-Min
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Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date
err2023-08-11
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errOAAI
errZhang, Guofu; Hu, Yuepeng; Yang, Qi; Pu, Na; Li, Gang; Zhang, Jingzhu; Tong, Zhihui; Masson, Emmanuelle; Cooper, David N.; Chen, Jian-Min; Li, Weiqin
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The East Asian-specific LPL p.Ala288Thr (c.862G>A) missense variant exerts a mild effect on protein function
err2023-08-07
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errOAAI
errHu, Yuepeng; Zhang, Guofu; Yang, Qi; Pu, Na; Li, Kaiwei; Li, Baiqiang; Cooper, David N.; Tong, Zhihui; Li, Weiqin; Chen, Jian-Min
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Expanding ACMG variant classification guidelines into a general framework
err2022-08-16
err43
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errMasson, Emmanuelle; Zou, Wen-Bin; Genin, Emmanuelle; Cooper, David N.; Le Gac, Gerald; Fichou, Yann; Pu, Na; Rebours, Vinciane; Ferec, Claude; Liao, Zhuan; Chen, Jian-Min
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Toxicity from a single injection of human umbilical cord mesenchymal stem cells into rat ovaries
err2022-06-01
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errShi, Libing; Zhang, Yingyi; Dong, Xinwei; Pan, Yibin; Ying, Hanqi; Chen, Jianmin; Yang, Weijie; Zhang, Yi; Fei, Haiyi; Liu, Xiu; Wei, Cheng; Lin, Huizhen; Zhou, Hanjing; Zhao, Chenqiong; Yang, Anran; Zhou, Feng; Zhang, Songying
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Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis
err2022-02-24
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errOAAI
errLu, Ying-Qian; Chen, Jian-Min; Lin, Han; Feng, Shu-Yan; Che, Chun-Hui; Liu, Chang-Yun; Huang, Hua-Pin; Zou, Zhang-Yu
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