Author

Frédéric Huet

CHU Dijon BourgogneORCID 0009-0003-0252-1264Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Assay:electronic health records· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Christel Thauvin‐RobinetiD· 2 shared Laurence Olivier FaivreiD· 2 shared Alexandra BenachiiD· 1 shared Alexandre FabreiD· 1 shared Ange‐Line BrueliD· 1 shared Arnaud Blanchard· 1 shared Arnauld Delarue· 1 shared Aurélie Bourchany· 1 shared

Activity by Year

2017-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christel Thauvin‐RobinetORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 24, 2026

How parents judge newborn screening expansion in the genomic era: a theory-informed survey in France from the SeDeN-p3 study

Camille Level, Laurence Olivier Faivre, Margot LEMAITRE…·Christine Peyron

This study surveys French parents' views on expanding newborn screening to include genomic testing, finding high support but nuanced concerns about uncertainty and equity.

DOI 10.64898/2026.02.22.26346822

humanelectronic health records

𝕏 PostBluesky

GeneticsbioRxivPreprintOct 26, 2017

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan…·Alexandre Fabre

The paper identifies biallelic UNC45A mutations as the cause of O2HE syndrome, characterized by cholestasis, congenital diarrhea, hearing loss, and bone fragility.

DOI 10.1101/208942

humanwhole-exome sequencing

𝕏 PostBluesky