Jian Min Chen

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Jian Min



Publications in SciGraph latest 50 shown

  • 2018-12 Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly in HUMAN GENOMICS
  • 2017-12 In silico prioritization and further functional characterization of SPINK1 intronic variants in HUMAN GENOMICS
  • 2017 A Short History of Research into Chronic Pancreatitis in CHRONIC PANCREATITIS
  • 2017 Pathogenetics of Chronic Pancreatitis in CHRONIC PANCREATITIS
  • 2015-06 Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions in HUMAN GENETICS
  • 2015-05 A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis in NATURE GENETICS
  • 2013-10 Variants in CPA1 are strongly associated with early onset chronic pancreatitis in NATURE GENETICS
  • 2012-12 Local sequence determinants of two in-frame triplet deletion/duplication hotspots in the RHD/RHCEgenes in HUMAN GENOMICS
  • 2011-10 Assessing the pathological relevance of SPINK1 promoter variants in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2011-01 Functional Consequence of the STK11 Exon 7 Duplication Mutation Identified in a Korean Child with Peutz-Jeghers Syndrome in DIGESTIVE DISEASES AND SCIENCES
  • 2010-03 Genetics of osteoporosis: accelerating pace in gene identification and validation in HUMAN GENETICS
  • 2010-01 Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiency in HUMAN GENETICS
  • 2008-06 Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation in HUMAN GENETICS
  • 2008-02 Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis in HUMAN GENETICS
  • 2007-10 Gene conversion: mechanisms, evolution and human disease in NATURE REVIEWS GENETICS
  • 2007-09 Mechanism of Alu integration into the human genome in THE HUGO JOURNAL
  • 2007-09 Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-09 Searching for potential microRNA-binding site mutations amongst known disease-associated 3′ UTR variants in THE HUGO JOURNAL
  • 2006-12 Hereditary pancreatitis caused by triplication of the trypsinogen locus in NATURE GENETICS
  • 2006-11 Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-10 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 in HUMAN GENETICS
  • 2006-08 A systematic analysis of disease-associated variants in the 3′ regulatory regions of human protein-coding genes I: general principles and overview in HUMAN GENETICS
  • 2006-05 Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-09 A systematic analysis of LINE-1 endonuclease-dependent retrotranspositional events causing human genetic disease in HUMAN GENETICS
  • 2003-02 Reply: ‘Gain of function’ PRSS1 mutations are rare in ICP in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-02 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 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-12 Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography in BMC GENETICS
  • 2001-09 Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations in HUMAN GENETICS
  • 2000-07 Molecular basis of hereditary pancreatitis in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-01 Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene in HUMAN GENETICS
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