Author

Clément Robin

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.

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Genetic & Genomic Medicine· 1

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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 David PelleriniD· 1 shared Florent Girardier· 1 shared François Evoy· 1 shared

Activity by Year

2023-2023 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anaïs Grosset

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1 paper

Recent·Most cited

Genetic & Genomic MedicineScientific ReportsPeer-reviewedJun 15, 2023

Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia

Céline Bonnet, David Pellerin, Virginie Roth…·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.

69 citationstop 1%

humanDNA methylation

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