Author

Marion Gaudin

Centre National de la Recherche Scientifique

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ahmad S. AminiD· 1 shared Alex LipoviD· 1 shared Ammar Al‐ChalabiiD· 1 shared Andrew A. GraceiD· 1 shared Andrew Michael GlazeriD· 1 shared Antoine LeenhardtiD· 1 shared Apichai KhongphatthanayothiniD· 1 shared Arjan C. HouwelingiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ahmad S. AminORCID

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1 paper

Recent·Most cited

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Alex Lipov, Manon Baudic, Pierre Lindenbaum, Isabella Mengarelli, Matthew J. O’Neill, Fernanda M. Bosada, Yanushi Dullewe Wijeyeratne, Luis de la Higuera Romero, Maarten Kooyman, Marion Gaudin, Graziella Aquilina, Leander Beekman, Estelle Baron, Mathilde Bertrand, Zoya Kingsbury, , Connie R. Bezzina

This study identifies rare and low-frequency non-coding variants at the SCN5A locus associated with Brugada syndrome using whole-genome sequencing and functional assays.

medRxiv · Jul 10, 2026 · PreprintGenetic & Genomic Medicine