Author

Sophie Scheidecker

InsermORCID 0000-0003-0902-8926Unclaimed 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 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Anne BolandiD· 1 shared Ariane Kröll‐HermiiD· 1 shared Barbara A. Zieba· 1 shared Carine Eyermann· 1 shared Christelle Etard· 1 shared Claude Speeg‐SchatziD· 1 shared Corinne Stoetzel· 1 shared Dan M. LipskeriD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Anne BolandORCID

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1 paper

Recent·Most cited

GeneticsEMBO Molecular MedicinePeer-reviewedJun 5, 2020

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel…·Hélène Dollfus

The paper identifies a PSMC3 variant causing a neurosensory syndrome with deafness and cataracts due to proteotoxic stress and impaired proteasome function.

65 citations

humanzebrafish

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