Author
Radboud University Medical CenterORCID 0000-0002-2934-497XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Salome Spaag, Wen-Hsuan Wu, Justin Yun…·Pietro De Angeli
This paper develops an allele-specific ASO strategy, SNARE, that selectively suppresses mutant RHO transcripts in RHO-linked retinitis pigmentosa, demonstrating functional rescue and retinal preservation in both in vitro and in vivo models.
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.
Rebekkah J. Hitti‐Malin, Claire‐Marie Dhaenens, Daan M. Panneman…·Frans P.M. Cremers
The paper uses smMIPs to sequence MD-associated genes and loci in patients, achieving high coverage and a 38% diagnostic yield.
Stéphanie S. Cornelis, Esmee H. Runhart, Miriam Bauwens…·Frans P.M. Cremers
The paper estimates genetic risk for offspring of Stargardt disease patients based on ABCA4 variant severity and penetrance, finding varying risks depending on parental genotypes.