Author

Vincent A. Jung

Centre National de la Recherche ScientifiqueORCID 0000-0003-0530-1737Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Physiology· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

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

Activity by Year

2023-2026 · peak 1/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

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3 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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PhysiologybioRxivPreprintFeb 29, 2024

Beyond Kaftrio: mechanistic insights to maximize N1303K-CFTR rescue

Iwona Maria Pranke, Valeria Capurro, B. Chevalier…·Nicoletta Pedemonte

This study investigates the mechanism of N1303K-CFTR rescue by ELX/TEZ and ETI combotherapy, showing increased protein amounts and activity with potential clinical benefits.

2 citations

humanproteomics

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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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