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

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

Maria Kousi, Onuralp Söylemez, Ayşegül Ozantürk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A. Cassa, Harrison Brand, Jill Anne Mokry, Maxim Y. Wolf, Azita Sadeghpour, Kelsey McFadden, Richard Alan Lewis, Michael E. Talkowski, , Nicholas Katsanis

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

Nature Genetics · Oct 12, 2020Peer-reviewedGenetics

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