Author

Emmanuel M. Gonzales

Université Paris-SudORCID 0000-0002-1546-3193Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

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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

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

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