Author
Radboud University Medical CenterORCID 0000-0002-1358-5963Unclaimed ORCID profile · follow to get notified of new preprints
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.
Samaneh Farashi, Carla J. Abbott, Brendan R. E. Ansell…·Melanie Bahlo
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.
Minna K. Karjalainen, Savita Karthikeyan, Clare Oliver‐Williams…·Johannes Kettunen
This study identifies 400+ genetic loci associated with circulating metabolic traits and highlights pleiotropy and novel disease pathways.
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.
Jonas J. W. Kuiper, Jessica van Setten, Matthew A.M. Devall…·Timothy R. D. J. Radstake
This study identifies functionally distinct ERAP1 and ERAP2 haplotypes associated with Birdshot Uveitis and shows their combined effect enhances disease risk.