Author
Radboud University Medical CenterORCID 0000-0003-1509-3150Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Kim Rodenburg, Stefanida Shliaga, Lonneke Haer‐Wigman…·Susanne Roosing
This paper reanalyzes short-read WGS data and applies long-read WGS to improve genetic diagnosis of inherited retinal disease cases that were previously unresolved.
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.
Tabea Riepe, Merel Stemerdink, Renee Salz…·Peter A.C. ’t Hoen
The paper generates a proteogenomic atlas of the human neural retina using long-read RNA-sequencing and mass spectrometry, identifying novel transcript isoforms and peptides.
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.
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.
Adelheid M. Lempradl, Unn Örtegren Kugelberg, Mary Iconomou…·John Andrew Pospisilik
This study shows that paternal dietary sugar affects offspring gene expression through sperm piRNA pathways, linking small RNA regulation to intergenerational epigenetic inheritance.