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Genetics

D-Index
57
Citations
10668
World Ranking
3426
National Ranking
173

Overview

Jian-Min Chen is affiliated with the University of Western Brittany in France. Their research spans several interconnected fields within biomedical science, focusing primarily on medicine and biochemistry, genetics, and molecular biology. With 163 publications in medicine and 59 in biochemistry, genetics, and molecular biology, their work reflects an extensive engagement with both clinical and molecular approaches to health and disease.

Their main subfields of study include surgery, molecular biology, oncology, genetics, and cardiology and cardiovascular medicine. This combination indicates a research profile that bridges clinical intervention, molecular mechanisms, and genetic factors across a range of diseases.

The core topics addressed in their body of work cover pancreatitis pathology and treatment, pancreatic and hepatic oncology research, gastrointestinal disorders and treatments, lipid metabolism and disorders, pancreatic function and diabetes, and RNA research and splicing, including RNA modifications and cancer. The distribution of publications highlights significant focus areas: 82 publications on pancreatitis pathology and treatment and 54 on pancreatic and hepatic oncology research.

Jian-Min Chen has contributed to multiple scientific papers, including:

  • Variants That Affect Function of Calcium Channel TRPV6 Are Associated With Early-Onset Chronic Pancreatitis (2020, Gastroenterology)
  • Expanding ACMG variant classification guidelines into a general framework (2022, Human Genomics)
  • Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China (2022, JAMA Network Open)
  • Asian Population Is More Prone to Develop High-Risk Myelodysplastic Syndrome, Concordantly with Their Propensity to Exhibit High-Risk Cytogenetic Aberrations (2021, Cancers)
  • The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT>GC Variants Differ Markedly from Those Predicted (2020, Current Genomics)

The venues where Jian-Min Chen frequently publishes include Pancreatology, with 13 papers, bioRxiv (Cold Spring Harbor Laboratory) with 9, Gut with 5, and both Lipids in Health and Disease and Genes with 4 publications each. This selection of journals reflects the scientist's concentration in gastrointestinal and metabolic disease research.

Frequent collaborators in Jian-Min Chen's research include Claude Férec, Emmanuelle Masson, D.N. Cooper, Vinciane Rebours, and Zhuan Liao. These co-authorship patterns illustrate an active network contributing to shared research themes.

Best Publications

  • Gene conversion: mechanisms, evolution and human disease

    Jian-Min Chen;David Neil Cooper;Nadia Chuzhanova;Claude Férec

  • Type of PKD1 mutation influences renal outcome in ADPKD.

    Emilie Cornec-Le Gall;Marie-Pierre Audrézet;Marie-Pierre Audrézet;Jian-Min Chen;Jian-Min Chen;Maryvonne Hourmant

  • Variants in CPA1 are strongly associated with early onset chronic pancreatitis

    Heiko Witt;Sebastian Beer;Jonas Rosendahl;Jian Min Chen;Jian Min Chen

  • A degradation-sensitive anionic trypsinogen ( PRSS2 ) variant protects against chronic pancreatitis

    Heiko Witt;Miklós Sahin-Tóth;Olfert Landt;Jian Min Chen

  • A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease

    Jian-Min Chen;Peter D. Stenson;David N. Cooper;Claude Férec

  • Hereditary pancreatitis caused by triplication of the trypsinogen locus

    Cédric Le Maréchal;Emmanuelle Masson;Emmanuelle Masson;Jian-Min Chen;Jian-Min Chen;Frédéric Morel

  • Genes, Mutations, and Human Inherited Disease at the Dawn of the Age of Personalized Genomics

    David Neil Cooper;Jian-Min Chen;Edward Vincent Ball;Katy Howells

  • Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis

    Emmanuelle Masson;Emmanuelle Masson;Jian-Min Chen;Jian-Min Chen;Virginie Scotet;Virginie Scotet;Cédric Le Maréchal

  • A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes II: the importance of mRNA secondary structure in assessing the functionality of 3′ UTR variants

    Jian-Min Chen;Jian-Min Chen;Claude Férec;David Neil Cooper

  • A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis

    Karianne Fjeld;Frank Ulrich Weiss;Denise Lasher;Jonas Rosendahl

  • Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis.

    Marie-Pierre Audrézet;Jian-Min Chen;Cedric Le Maréchal;Philippe Ruszniewski

  • Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

    Marie-Pierre Audrézet;Emilie Cornec-Le Gall;Jian-Min Chen;Sylvia Redon;Sylvia Redon

  • Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

    Jian-Min Chen;Nadia Chuzhanova;Peter D. Stenson;Claude Férec

  • Genomic rearrangements in inherited disease and cancer.

    Jian-Min Chen;David Neil Cooper;Claude Férec;Hildegard Kehrer-Sawatzki

  • Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis

    Jian-Min Chen;Bernard Mercier;Marie-Pierre Audrezet;Claude Ferec

  • A systematic analysis of disease-associated variants in the 3' regulatory regions of human protein-coding genes I: General principles and overview

    Jian-Min Chen;Jian-Min Chen;Claude Férec;David Neil Cooper

  • Chronic Pancreatitis: Genetics and Pathogenesis

    Jian-Min Chen;Claude Férec

  • Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms.

    Marie-Pierre Audrézet;Jian-Min Chen;Odile Raguénès;Nadia Chuzhanova

  • Genetics of osteoporosis: accelerating pace in gene identification and validation

    Wen-Feng Li;Shu-Xun Hou;Bin Yu;Meng-Meng Li

  • On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease.

    David Neil Cooper;Albino Bacolla;Claude Férec;Karen M. Vasquez

Frequent Co-Authors

Claude Férec
Claude Férec University of Western Brittany
David Neil Cooper
David Neil Cooper Cardiff University
Nadia Chuzhanova
Nadia Chuzhanova Nottingham Trent University
Miklós Sahin-Tóth
Miklós Sahin-Tóth University of California, Los Angeles
Joachim Mössner
Joachim Mössner Leipzig University
Milan Macek
Milan Macek Charles University
Anders Molven
Anders Molven University of Bergen
Stefan Johansson
Stefan Johansson University of Bergen
Pål R. Njølstad
Pål R. Njølstad University of Bergen
Peter D. Stenson
Peter D. Stenson Cardiff University

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