Author

Jean Muller

InsermORCID 0000-0002-7682-559XUnclaimed 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:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-genome sequencing· 1 Organism:zebrafish· 1

Frequent Co-Authors

Hélène DollfusiD· 2 shared Anne BolandiD· 1 shared Ariane Kröll‐HermiiD· 1 shared Ayşegül Ozantürk· 1 shared Azita SadeghpouriD· 1 shared Barbara A. Zieba· 1 shared Carine Eyermann· 1 shared Christelle Etard· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetics

Hélène DollfusORCID

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2 papers

Recent·Most cited

GeneticsNature GeneticsPeer-reviewedOct 12, 2020

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Maria Kousi, Onuralp Söylemez, Ayşegül Ozantürk…·Nicholas Katsanis

The paper analyzes secondary-variant burden in BBS cohorts and finds enrichment of trans-acting rare nonsynonymous variants in chaperonin-encoding genes.

38 citations

humanstatistical model

𝕏 PostBluesky

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

𝕏 PostBluesky