Author
University of LeedsORCID 0000-0003-4388-243XUnclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Panagiotis I. Sergouniotis, Adam Diakite, Kumar Gaurav…·Tomas Fitzgerald
The paper uses an autoencoder to derive retinal phenotypes from OCT images, identifies 118 genetic loci, and shows their relevance to retinal morphology and disease prediction.
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.
James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor…·Chris F. Inglehearn
The paper identifies new pathogenic GRK1 variants in Oguchi disease and evaluates their impact on protein structure using bioinformatics tools.
Adriana Buskin, Lili Zhu, Valeria Chichagova…·Majlinda Lako
The paper generates patient-specific retinal organoids and RPE from RP type 11 patients to show PRPF31 mutations cause retinal-specific splicing defects and structural/functional impairments, which are corrected by in situ gene editing.