Author

Yves Rimet

Centre Hospitalier Intercommunal Aix-Pertuis

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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Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Approach:experimental assay· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Alexandre FabreiD· 1 shared Ange‐Line BrueliD· 1 shared Arnaud Blanchard· 1 shared Arnauld Delarue· 1 shared Aurélie Bourchany· 1 shared Bertrand RoquelaureiD· 1 shared Caroline Lacoste· 1 shared Catherine BadensiD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Alexandre FabreORCID

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1 paper

Recent·Most cited

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

Clothilde Estève, Ludmila Francescatto, Perciliz L. Tan, Aurélie Bourchany, Cécile de Leusse, Evelyne Marinier, Arnaud Blanchard, Patrice Bourgeois, Céline Brochier‐Armanet, Ange‐Line Bruel, Arnauld Delarue, Yannis Duffourd, Emmanuelle Ecochard‐Dugelay, Geraldine Hery, Frédéric Huet, , Alexandre Fabre

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

bioRxiv · Oct 26, 2017 · PreprintGenetics