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Emmanuelle Masson

Showing results (41-50 of 77) with videos related to

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Frontiers in Genetics|August 23, 2021
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing AssaysJin-Huan Lin, Hao Wu, Wen-Bin Zou, et al.
Human Mutation|February 10, 2021
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitisEmmanuelle Masson, Vinciane Rebours, Louis Buscail, et al.
Human Genomics|August 16, 2022
Expanding ACMG variant classification guidelines into a general frameworkEmmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|June 3, 2023
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitisEmmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, et al.
Ebiomedicine|October 20, 2019
Natural history of SPINK1 germline mutation related-pancreatitisNelly Muller, Ioannis Sarantitis, Marie Rouanet, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|August 27, 2021
The three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitisMaren Ewers, Lucie Canaff, Antonia Em Weh, et al.
American Journal of Human Genetics|August 22, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challengesYuan-Chen Wang, Emmanuelle Masson, Qi-Wen Wang, et al.
Human Genomics|February 14, 2019
Toward a clinical diagnostic pipeline for SPINK1 intronic variantsXin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, et al.
HGG Advances|April 3, 2026
When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classificationJin-Huan Lin, Hao Wu, Xin-Ying Tang, et al.
Human Genomics|February 27, 2024
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variantsHao Wu, Jin-Huan Lin, Xin-Ying Tang, et al.
Pageof 8

Showing results (41-50 of 77) with videos related to

Sort By:
Pageof 8
Frontiers in Genetics|August 23, 2021
Splicing Outcomes of 5' Splice Site GT>GC Variants That Generate Wild-Type Transcripts Differ Significantly Between Full-Length and Minigene Splicing AssaysJin-Huan Lin, Hao Wu, Wen-Bin Zou, et al.
Human Mutation|February 10, 2021
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitisEmmanuelle Masson, Vinciane Rebours, Louis Buscail, et al.
Human Genomics|August 16, 2022
Expanding ACMG variant classification guidelines into a general frameworkEmmanuelle Masson, Wen-Bin Zou, Emmanuelle Génin, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|June 3, 2023
Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitisEmmanuelle Masson, Stéphanie Berthet, Gerald Le Gac, et al.
Ebiomedicine|October 20, 2019
Natural history of SPINK1 germline mutation related-pancreatitisNelly Muller, Ioannis Sarantitis, Marie Rouanet, et al.
Pancreatology : Official Journal of the International Association of Pancreatology (IAP) ... [Et Al.]|August 27, 2021
The three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitisMaren Ewers, Lucie Canaff, Antonia Em Weh, et al.
American Journal of Human Genetics|August 22, 2025
SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challengesYuan-Chen Wang, Emmanuelle Masson, Qi-Wen Wang, et al.
Human Genomics|February 14, 2019
Toward a clinical diagnostic pipeline for SPINK1 intronic variantsXin-Ying Tang, Jin-Huan Lin, Wen-Bin Zou, et al.
HGG Advances|April 3, 2026
When splicing is not all or none: GT>GC 5' splice-site variants as a model for intermediate effects and challenges in variant classificationJin-Huan Lin, Hao Wu, Xin-Ying Tang, et al.
Human Genomics|February 27, 2024
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variantsHao Wu, Jin-Huan Lin, Xin-Ying Tang, et al.
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