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Genes|April 3, 2021
Scale and Scope of Gene-Alcohol Interactions in Chronic Pancreatitis: A Systematic ReviewJian-Min Chen, Anthony F Herzig, Emmanuelle Génin, et al.
Human Mutation|July 20, 2016
Discovery and Functional Annotation of PRSS1 Promoter Variants in Chronic PancreatitisArnaud Boulling, Amandine Abrantes, Emmanuelle Masson, et al.
Human Mutation|August 20, 2011
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 diseaseDavid N Cooper, Albino Bacolla, Claude Férec, et al.
Transfusion|May 23, 2012
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanismsJian-Min Chen, Yann Fichou, Déborah Jamet, et al.
Human Genetics|January 28, 2022
Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysisWen-Bin Zou, David N Cooper, Emmanuelle Masson, et al.
Genes|October 11, 2017
Analysis of the Impact of Known SPINK1 Missense Variants on Pre-mRNA Splicing and/or mRNA Stability in a Full-Length Gene AssayHao Wu, Arnaud Boulling, David N Cooper, et al.
Current Genomics|July 14, 2020
The Experimentally Obtained Functional Impact Assessments of 5' Splice Site GT'GC Variants Differ Markedly from Those PredictedJian-Min Chen, Jin-Huan Lin, Emmanuelle Masson, et al.
Human Mutation|May 12, 2009
Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repairNadia Chuzhanova, Jian-Min Chen, Albino Bacolla, et al.
Human Mutation|May 21, 2015
Disclosing the Hidden Structure and Underlying Mutational Mechanism of a Novel Type of Duplication CNV Responsible for Hereditary Multiple OsteochondromasPeiqiang Su, Ye Wang, David N Cooper, et al.
Human Mutation|May 6, 2020
5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicityJin-Huan Lin, Emmanuelle Masson, Arnaud Boulling, et al.
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