Author

Jean‐Baptiste Rivière

InsermORCID 0000-0001-9144-4210Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1

Frequent Co-Authors

Yannis DuffourdiD· 2 shared 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 Brian J. O’RoakiD· 1 shared

Activity by Year

2017-2017 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Yannis DuffourdORCID

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2 papers

Recent·Most cited

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

GeneticsThe American Journal of Human GeneticsPeer-reviewedAug 31, 2017

Exonic mosaic mutations contribute risk for autism spectrum disorder

Deidre R. Krupp, Rebecca Barnard, Yannis Duffourd…·Brian J. O’Roak

The paper investigates exonic mosaic mutations in autism spectrum disorder (ASD) using whole-exome sequencing data from the Simons Simplex Collection, finding significant synonymous SMM burden and enrichment in chromatin modifiers.

204 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky