Author
InsermORCID 0000-0002-6369-4818Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
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.
Mathieu Quinodoz, Elifnaz Çelik, Dhryata Kamdar…·Carlo Rivolta
RetiGene provides a curated gene atlas for inherited retinal diseases, integrating variant data and RNA sequencing to support gene prioritization and therapeutic development.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková…·Gaël Manès
The paper identifies de novo and inherited variants in U4 and U6 snRNAs causing retinitis pigmentosa and shows their impact on snRNP biogenesis.
Krishna Damodar, Grégor Dubois, Laurent Guillou…·Vasiliki Kalatzis
The paper models RLBP1-related retinal diseases using iPSC-derived RPE and validates a gene replacement strategy, identifying a novel CRALBP isoform with functional significance.
Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes…·Susanne Roosing
The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.