Author
Children's Hospital of PhiladelphiaORCID 0000-0002-9899-2081Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
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.
Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert…·Frauke Coppieters
The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.
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.
Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal…·Elfride B. W. De Baere
This study identifies cis-regulatory elements and non-coding variants associated with North Carolina macular dystrophy using multi-omics and enhancer assays.
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.