Author

Fouzia Studer

Hôpitaux Universitaires de Strasbourg

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 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

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

Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Élise Schaefer, Sophie Scheidecker, Séverine Bär, Masanari Takamiya, Koichi Kawakami, Barbara A. Zieba, Fouzia Studer, Valérie Pelletier, Carine Eyermann, Claude Speeg‐Schatz, Vincent Laugel, , Hélène Dollfus

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

EMBO Molecular Medicine · Jun 5, 2020Peer-reviewedGenetics