Author

Stéphanie Cacciatore

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

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Approach:experimental assay· 1 Organism:human· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anaïs Grosset· 1 shared Armand HocqueliD· 1 shared Bernard BraisiD· 1 shared Carine Bossenmeyer‐PouriéiD· 1 shared Céline BonnetiD· 1 shared Clément Robin· 1 shared David PelleriniD· 1 shared Florent Girardier· 1 shared

Activity by Year

2023-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anaïs Grosset

Mutual co-authors in cluster

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1 paper

Recent·Most cited

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