Author

Isabelle S. Audo

Centre National de la Recherche ScientifiqueORCID 0000-0003-0698-5309Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 4 Research Focus:differential expression· 3 Approach:experimental assay· 3 Organism:mouse· 3 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1

Frequent Co-Authors

Andrea Zanetti· 2 shared Carlo RivoltaiD· 2 shared Christina ZeitziD· 2 shared Ida Chiara GuerreraiD· 2 shared Isabelle PerraultiD· 2 shared Jérôme E. RogeriD· 2 shared Karolina KamińskaiD· 2 shared Lucas Fares‐TaieiD· 2 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Andrea Zanetti

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Genetic & Genomic MedicineGenome MedicinePeer-reviewedOct 31, 2026

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Zoéline Mars, Andrea Zanetti, Karolina Kamińska…·Isabelle Perrault

The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.

1 citation

mouseDNA methylation

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NeuroscienceCommunications BiologyPeer-reviewedSep 29, 2026

Increased sensitivity to myopia and altered retinal ON/OFF balance in a mouse model lacking Dusp4

Baptiste Wilmet, Christelle Michiels, Jingyi Zhang…·Christina Zeitz

This study investigates the role of Dusp4 in myopia development using a mouse model, finding altered retinal ON/OFF balance and increased sensitivity to myopia.

1 citationtop 4%

mouseelectronic health records

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Genetic & Genomic MedicineNature GeneticsPeer-reviewedDec 1, 2024

Distinctive cross-ancestry genetic architecture for age-related macular degeneration

Bryan R. Gorman, Georgios Voloudakis, Robert P. Igo…·Srinivas V. Goverdhan

This study identifies 63 AMD risk loci across multiple ancestries, highlighting ancestry-dependent genetic heterogeneity and potential therapeutic targets.

58 citationstop 1%

humanGWAS summary statistics

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Genetic & Genomic MedicinemedRxivPreprintAug 19, 2023

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Andrea Zanetti, Lucas Fares‐Taie, Jeanne Amiel…·Isabelle Perrault

This study identifies GPATCH11 variants causing mis-splicing and early-onset retinal dystrophy with neurological impairment through patient analysis, fibroblast studies, and a mouse model.

1 citation

humanmouse

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