Author

Isabelle Desguerre

Hôpital Necker-Enfants MaladesORCID 0000-0002-4074-5862Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Cell Biology· 1 Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:cell type annotation· 2 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Assay:spatial transcriptomics· 1

Frequent Co-Authors

Cyril GitiauxiD· 2 shared Agnès RötigiD· 1 shared Arnaud Hubas· 1 shared Arnold MünnichiD· 1 shared Baptiste PeriouiD· 1 shared Benedetta RuzzenenteiD· 1 shared Bénédicte ChazaudiD· 1 shared Benjamin ChaigneiD· 1 shared

Activity by Year

2020-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 15 mutual co-author links

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2 shared papersCell Biology

Cyril GitiauxORCID

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3 papers

Recent·Most cited

Cell BiologybioRxivPreprintApr 15, 2025

Muscle spatial transcriptomic reveals heterogeneous profiles in untreated juvenile dermatomyositis and the persistence of pathological signature after remission

Margot Tragin, Séverine Aude Degrelle, Baptiste Periou…·Cyril Gitiaux

This study uses spatial transcriptomics to identify persistent pathological signatures in JDM muscle after remission.

1 citation

humanspatial transcriptomics

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GenomicsiSciencePeer-reviewedNov 8, 2024

Epigenetic control of myogenic identity of human muscle stem cells in Duchenne Muscular Dystrophy

Jimmy Massenet, Michèle Weiss‐Gayet, Hina Bandukwala…·Bénédicte Chazaud

The paper investigates how epigenetic changes in muscle stem cells from Duchenne Muscular Dystrophy patients lead to loss of myogenic identity and identifies MEF2B as a key mediator.

12 citations

humanbulk RNA-seq

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedNov 9, 2020

Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy

Giulia Barcia, Marlène Rio, Zahra Assouline…·Benedetta Ruzzenente

The paper reports three novel compound heterozygous FARS2 mutations in patients with non-fatal early onset encephalopathy and epilepsy.

12 citations

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