Isabelle Audo

46PUBLICATIONS
164CO-AUTHORS
Optical technologyNeurology and neuromuscular diseasesVision scienceCellular nervous systemEpigenetics (incl. genome methylation and epigenomics)
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Publications (46)

|Feb 23, 2026
Identification and functional validation of a novel disease-causing variant in the noncoding region of NYX.

Filip Spanic, Christelle Michiels, Julien Navarro

|Feb 06, 2026
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.

Zoéline Mars, Andrea Zanetti, Karolina Kaminska

|Nov 19, 2025
Increased sensitivity to myopia and altered retinal ON/OFF balance in a mouse model lacking Dusp4.

Baptiste Wilmet, Christelle Michiels, Jingyi Zhang

|Mar 15, 2025
Voretigene neparvovec in RPE65-related inherited retinal dystrophy: the 1-year real-world study LIGHT.

Isabelle Audo, Pierre-Olivier Barale, Céline Devisme

|Nov 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie

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