Author

Eugénie Dionnet

Inserm

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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1

Frequent Co-Authors

Alexandra SalviiD· 1 shared Aurélia DefouriD· 1 shared Francesca PuppoiD· 1 shared Marc BartoliiD· 1 shared Martin KrahniD· 1 shared Nathalie Da Silva· 1 shared Nicolas LévyiD· 1 shared Svetlana GorokhovaiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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8 top collaborators · 28 mutual co-author links

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1 shared paperGenetics

Alexandra SalviORCID

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1 paper

Recent·Most cited

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay

Eugénie Dionnet, Aurélia Defour, Nathalie Da Silva, Alexandra Salvi, Nicolas Lévy, Martin Krahn, Marc Bartoli, Francesca Puppo, Svetlana Gorokhova

The paper systematically assesses the splicing impact of deep exonic missense variants in CAPN3 using minigene assays, revealing that eight variants disrupt splicing and highlight limitations in current computational tools.

Human Mutation · Jul 15, 2020Peer-reviewedGenetics