Author
InsermORCID 0000-0003-3407-5265Unclaimed 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.
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.
James Liu, Yi He, Cara Lwin…·Robert B. Hufnagel
The paper identifies NTE activity as a biomarker for retinopathy and endocrinopathy in PNPLA6 disorders, using clinical and preclinical data to establish a genotype-activity-phenotype relationship.
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.
Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero…·Frans P.M. Cremers
The paper identifies pathogenic deep-intronic and structural variants in 26% of unsolved Stargardt disease cases using integrated genomics and transcriptomics.