Author

Bertrand Roquelaure

Hôpital de la TimoneORCID 0009-0003-3366-2334Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Signature Assays, Organisms & Methods

Click to filter · or open tag

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 Caroline Lacoste· 1 shared Catherine BadensiD· 1 shared Catherine GuettieriD· 1 shared

Activity by Year

2017-2017 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

1 shared paperGenetics

Alexandre FabreORCID

Mutual co-authors in cluster

Author profile →

1 paper

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