E
Emmanuelle Masson
Researcher at French Institute of Health and Medical Research
Publications - 75
Citations - 2039
Emmanuelle Masson is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Pancreatitis & Gene. The author has an hindex of 20, co-authored 66 publications receiving 1586 citations. Previous affiliations of Emmanuelle Masson include University of Western Brittany.
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Journal ArticleDOI
NGS mismapping confounds the clinical interpretation of the PRSS1 p.Ala16Val (c.47C>T) variant in chronic pancreatitis.
TL;DR: In this article, the authors address another NGS-related pitfall that contributes to confusion in relation to the clinical interpretation of PRSS1 p.Ala16Val (p.
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Digging deeper into the intronic sequences of the SPINK1 gene
Wen-Bin Zou,Emmanuelle Masson,Arnaud Boulling,David Neil Cooper,Zhao-Shen Li,Zhuan Liao,Claude Férec,Jian-Min Chen +7 more
TL;DR: In this paper, the authors investigated the missing heritability of intronic variants in approximately 60% of German cases of chronic pancreatitis and found that the number of mutations that could be missed if intronic sequences were not screened.
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Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis
TL;DR: A positive correlation between increased trypsinogen gene dosage and pancreatitis risk is demonstrated in the context of the rare duplication and triplication CNVs, and between the level of trypsInogen expression and disease risk in thecontext of the heterozygous and homozygous rs10273639C-tagged genotypes.
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Most unambiguous loss-of-function CPA1 mutations are unlikely to predispose to chronic pancreatitis.
Jin-Huan Lin,Jin-Huan Lin,Arnaud Boulling,Emmanuelle Masson,David Neil Cooper,Zhao-Shen Li,Claude Férec,Zhuan Liao,Jian-Min Chen +8 more
TL;DR: An additional insight gleaned from this study is explored, suggesting that most unambiguous LoF CPA1 variants would not be able to elicit endoplasmic reticulum (ER) stress and hence, in light of the Hegyi and Sahin-Toth study, will not predispose to chronic pancreatitis.
Journal ArticleDOI
Toward a clinical diagnostic pipeline for SPINK1 intronic variants
Xin-Ying Tang,Jin-Huan Lin,Jin-Huan Lin,Wen-Bin Zou,Emmanuelle Masson,Arnaud Boulling,Shun-Jiang Deng,David Neil Cooper,Zhuan Liao,Claude Férec,Zhao-Shen Li,Jian-Min Chen +11 more
TL;DR: An operational pipeline for classifying SPINK1 intronic variants in the clinical diagnostic setting is proposed and the accuracy and efficiency of in silico prediction in combination with the cell culture-based full-length gene assay is demonstrated.