Jian-Min Chen

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 28

Top Venues

This page only lists publications with an associated author ORCID identifier.

Publications

Máté Sándor, Isabelle Scheers, Atsushi Masamune, Heiko Witt, Jessica LaRusch, Jian-Min Chen, Balázs Csaba Németh, Andrea Geisz, Aliye Uc, Miklós Sahin-Tóth
AlphaMissense versus laboratory-based pathogenicity prediction of 13 novel missense CPA1 variants from pancreatitis cases. Gut (2024)
Ya-Hui Wang, Emmanuelle Masson, Zhuan Liao, Claude Férec, Wen-Bin Zou, Jian-Min Chen
Strengths and limitations of AlphaMissense in CPA1 missense variant classification. Gut (2024)
Wen-Bin Zou, David N Cooper, Emmanuelle Masson, Na Pu, Zhuan Liao, Claude Férec, Jian-Min Chen
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis. Human genetics 141 (8) (2022)
Yan Jiang, Jean-Richard Eveillard, Marie-Anne Couturier, Benoit Soubise, Jian-Min Chen, Sujun Gao, Audrey Basinko, Frédéric Morel, Nathalie Douet-Guilbert, Marie-Bérengère Troadec
Asian Population Is More Prone to Develop High-Risk Myelodysplastic Syndrome, Concordantly with Their Propensity to Exhibit High-Risk Cytogenetic Aberrations. Cancers 13 (3) (2021)
Jian-Min Chen, Anthony Francis Herzig, French Exome Consortium, Emmanuelle Masson, David N Cooper, Claude Férec
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic Review. Genes 12 (4) (2021)
French Exome Consortium, David N Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen
NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis. Gut (2021)
Miguel Burgos, Reginald Philippe, Fabrice Antigny, Paul Buscaglia, Emmanuelle Masson, Sreya Mukherjee, Pauline Dubar, Cédric Le Maréchal, Florence Campeotto, Nicolas Lebonvallet, Maud Frieden, Juan Llopis, Beatriz Domingo, Peter B Stathopulos, Mitsuhiko Ikura, Wesley Brooks, Wayne Guida, Jian-Min Chen, Claude Ferec, Thierry Capiod, Olivier Mignen
The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis. Journal of cell science 134 (3) (2021)
Loann Raud, Marlène Le Tertre, Léonie Vigneron, Chandran Ka, Gaëlle Richard, Isabelle Callebaut, Jian-Min Chen, Claude Férec, Gérald Le Gac, Yann Fichou
Missense RHD single nucleotide variants induce weakened D antigen expression by altering splicing and/or protein expression. Transfusion 61 (8) (2021)
Shin Hamada, Emmanuelle Masson, Jian-Min Chen, Reiko Sakaguchi, Vinciane Rebours, Louis Buscail, Ryotaro Matsumoto, Yu Tanaka, Kazuhiro Kikuta, Fumiya Kataoka, Akira Sasaki, Marc Le Rhun, Hela Audin, Alain Lachaux, Bernard Caumont, Diane Lorenzo, Kareen Billiemaz, Raphael Besnard, Stéphane Koch, Thierry Lamireau, Xavier De Koninck, null null, Emmanuelle Génin, David N Cooper, Yasuo Mori, Atsushi Masamune, Claude Férec
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis. Human mutation 43 (2) (2021)
Emmanuelle Masson, Vinciane Rebours, Louis Buscail, Frédérique Frete, Mael Pagenault, Alain Lachaux, Jean-Baptiste Chevaux, Emmanuelle Génin, David N Cooper, Claude Férec, Jian-Min Chen
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis. Human mutation 42 (4) (2021)
Na Pu, Emmanuelle Masson, David N Cooper, French Exome Consortium, Claude Férec, Jian-Min Chen
Chronic Pancreatitis: The True Pathogenic Culprit within the SPINK1 N34S-Containing Haplotype Is No Longer at Large. Genes 12 (11) (2021)
Emmanuelle Masson, Claude Férec, Jian-Min Chen
The corrected breakpoint sequence of the homozygous SPINK1 deletion causing severe infantile isolated exocrine pancreatic insufficiency. Human mutation 42 (2) (2020)
Jin-Huan Lin, Emmanuelle Masson, Arnaud Boulling, Matthew Hayden, David N Cooper, Claude Férec, Zhuan Liao, Jian-Min Chen
5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity. Human mutation 41 (8) (2020)
Anthony F Herzig, French Exome Consortium, David N Cooper, Emmanuelle Masson, Claude Férec, Jian-Min Chen
Role of the Common PRSS1-PRSS2 Haplotype in Alcoholic and Non-Alcoholic Chronic Pancreatitis: Meta- and Re-Analyses. Genes 11 (11) (2020)
Xiao-Lei Shi, Qi Yang, Na Pu, Xiao-Yao Li, Wei-Wei Chen, Jing Zhou, Gang Li, Zhi-Hui Tong, Claude Férec, David N Cooper, Jian-Min Chen, Wei-Qin Li
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy. Molecular genetics & genomic medicine 8 (3) (2020)
Tom Kaune, Marcus Hollenbach, Bettina Keil, Jian-Min Chen, Emmanuelle Masson, Carla Becker, Marko Damm, Claudia Ruffert, Robert Grützmann, Albrecht Hoffmeister, Rene H M Te Morsche, Giulia Martina Cavestro, Raffaella Alessia Zuppardo, Adrian Saftoiu, Ewa Malecka-Panas, Stanislaw Głuszek, Peter Bugert, Markus M Lerch, Frank Ulrich Weiss, Wen-Bin Zou, Zhuan Liao, Peter Hegyi, Joost Ph Drenth, Jan Riedel, Claude Férec, Markus Scholz, Holger Kirsten, Andrea Tóth, Maren Ewers, Heiko Witt, Heidi Griesmann, Patrick Michl, Jonas Rosendahl
Common variants in glyoxalase I do not increase chronic pancreatitis risk. PloS one 14 (10) (2019)
Jin-Huan Lin, Xin-Ying Tang, Arnaud Boulling, Wen-Bin Zou, Emmanuelle Masson, Yann Fichou, Loann Raud, Marlène Le Tertre, Shun-Jiang Deng, Isabelle Berlivet, Chandran Ka, Matthew Mort, Matthew Hayden, Raphaël Leman, Claude Houdayer, Gerald Le Gac, David N Cooper, Zhao-Shen Li, Claude Férec, Zhuan Liao, Jian-Min Chen
First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild-type transcripts. Human mutation 40 (10) (2019)
Jin-Huan Lin, Arnaud Boulling, Emmanuelle Masson, David N Cooper, Zhao-Shen Li, Claude Férec, Zhuan Liao, Jian-Min Chen
Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis. Gut 69 (4) (2019)
Xin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, Shun-Jiang Deng, David N Cooper, Zhuan Liao, Claude Férec, Zhao-Shen Li, Jian-Min Chen
Toward a clinical diagnostic pipeline for SPINK1 intronic variants. Human genomics 13 (1) (2019)
Ye Wang, Xueli Wu, Liu Du, Ju Zheng, Songqing Deng, Xin Bi, Qiuyan Chen, Hongning Xie, Claude Férec, David N Cooper, Yanmin Luo, Qun Fang, Jian-Min Chen
Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. Human genomics 12 (1) (2018)
Hao Wu, Arnaud Boulling, David N Cooper, Zhao-Shen Li, Zhuan Liao, Claude Férec, Jian-Min Chen
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene Assay. Genes 8 (10) (2017)
Hao Wu, Arnaud Boulling, David N Cooper, Zhao-Shen Li, Zhuan Liao, Jian-Min Chen, Claude Férec
In vitro and in silico evidence against a significant effect of the SPINK1 c.194G>A variant on pre-mRNA splicing. Gut 66 (12) (2017)
Théa Venet, Emmanuelle Masson, Cécile Talbotec, Kareen Billiemaz, Renaud Touraine, Claire Gay, Sylvie Destombe, David N Cooper, Hugues Patural, Jian-Min Chen, Claude Férec
Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene. Human mutation 38 (12) (2017)
Emmanuelle Masson, Jian-Min Chen, David N Cooper, Claude Férec
PRSS1 copy number variants and promoter polymorphisms in pancreatitis: common pathogenetic mechanism, different genetic effects. Gut 67 (3) (2017)
Hao Wu, Dai-Zhan Zhou, Dorottya Berki, Andrea Geisz, Wen-Bin Zou, Xiao-Tian Sun, Liang-Hao Hu, Zhen-Hua Zhao, An-Jing Zhao, Lin He, David N Cooper, Claude Férec, Jian-Min Chen, Zhao-Shen Li, Miklós Sahin-Tóth, Zhuan Liao
No significant enrichment of rare functionally defective CPA1 variants in a large Chinese idiopathic chronic pancreatitis cohort. Human mutation 38 (8) (2017)
Arnaud Boulling, Emmanuelle Masson, Wen-Bin Zou, Sumit Paliwal, Hao Wu, Prachand Issarapu, Seema Bhaskar, Emmanuelle Génin, David N Cooper, Zhao-Shen Li, Giriraj R Chandak, Zhuan Liao, Jian-Min Chen, Claude Férec
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype. Human mutation 38 (8) (2017)
Xin-Ying Tang, Wen-Bin Zou, Emmanuelle Masson, Liang-Hao Hu, Claude Ferec, Jian-Min Chen, Zhao-Shen Li, Zhuan Liao
The CTRB1-CTRB2 risk allele for chronic pancreatitis discovered in European populations does not contribute to disease risk variation in the Chinese population due to near allele fixation. Gut 67 (7) (2017)
Wen-Bin Zou, Emmanuelle Masson, Arnaud Boulling, David N Cooper, Zhao-Shen Li, Zhuan Liao, Claude Férec, Jian-Min Chen
Digging deeper into the intronic sequences of the SPINK1 gene. Gut 65 (6) (2016)
Arnaud Boulling, Masahiro Sato, Emmanuelle Masson, Emmanuelle Génin, Jian-Min Chen, Claude Férec
Identification of a functional PRSS1 promoter variant in linkage disequilibrium with the chronic pancreatitis-protecting rs10273639. Gut 64 (11) (2015)
Wen-Bin Zou, Arnaud Boulling, Emmanuelle Masson, David N Cooper, Zhuan Liao, Zhao-Shen Li, Claude Férec, Jian-Min Chen
Clarifying the clinical relevance of SPINK1 intronic variants in chronic pancreatitis. Gut 65 (5) (2015)

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Publication Activity (10 Years)

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Jian-Min Chen