Author

Isabelle Jéru

InsermORCID 0000-0001-7171-0577Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2

Frequent Co-Authors

Alban C. ZiegleriD· 1 shared Antoinette PerlatiD· 1 shared Barbara I. Cerame· 1 shared Bruce D. HammockiD· 1 shared Bruno FèveiD· 1 shared Célia Moulin· 1 shared Christophe H.P. MorisseauiD· 1 shared Corinne VigourouxiD· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetics

Alban C. ZieglerORCID

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2 papers

Recent·Most cited

GeneticsbioRxivPreprintSep 13, 2024

Discovery and functional analysis of a novel ALPK1 variant causing ROSAH syndrome

Tom Snelling, L. Olory-Garnotel, Isabelle Jéru…·Alban C. Ziegler

The paper identifies a new ALPK1 variant causing ROSAH syndrome and shows it has altered activation by different metabolites, explaining autoinflammatory episodes.

2 citations

humanexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineeLifePeer-reviewedAug 3, 2021

EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence

Jérémie Gautheron, Christophe H.P. Morisseau, Wendy K. Chung…·Isabelle Jéru

The paper identifies EPHX1 mutations causing lipoatrophic diabetes through impaired epoxide hydrolysis and increased cellular senescence, with metreleptin therapy showing benefit.

29 citations

humanexperimental assay

𝕏 PostBluesky