Author

Marion Wandzel

Centre Hospitalier Régional et Universitaire de Nancy

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 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Assay:DNA methylation· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Céline BonnetiD· 2 shared David PelleriniD· 2 shared Henry HouldeniD· 2 shared Marie‐Josée DicaireiD· 2 shared Mathilde RenaudiD· 2 shared Matthis SynofzikiD· 2 shared Virginie Roth· 2 shared A. Pionzio· 1 shared

Activity by Year

2023-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Céline BonnetORCID

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2 papers

Recent·Most cited

A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus

David Pellerin, Giulia F. Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung, Isaac R. L. Xu, Marie‐Josée Dicaire, Guinevere Spurdens, Gabriel E. Matos-Rodrigues, Igor Stevanovski, Carolin K. Scriba, Adriana P. Rebelo, Virginie Roth, Marion Wandzel, , Alba Sanchis‐Juan

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

Nature Genetics · Jun 27, 2024Peer-reviewedGenetics

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia

Céline Bonnet, David Pellerin, Virginie Roth, Guillemette Clément, Marion Wandzel, Laëtitia Lambert, Solène Frismand, Marian Douarinou, Anaïs Grosset, Inès Bekkour, Frédéric Weber, Florent Girardier, Clément Robin, Stéphanie Cacciatore, Myriam Bronner, , Mathilde Renaud

The paper develops and validates a strategy to detect FGF14 GAA repeat expansions using PCR and Sanger sequencing, showing comparable accuracy to nanopore sequencing and suitable for clinical use.

Scientific Reports · Jun 15, 2023Peer-reviewedGenetic & Genomic Medicine