Author
Leiden University Medical CenterORCID 0000-0002-6737-7932Unclaimed 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.
Jessie M. Hendricks, Vikash Choudhary, Charles R. Heller…·Erwin van Wijk
This study investigates the role of usherin in zebrafish sleep regulation, finding altered sleep-wake behavior in ush2a mutants despite normal circadian rhythms and melatonin release.
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.
Joel T Rämö, Bryan R. Gorman, Lu-Chen C Weng…·Elizabeth J. Rossin
The paper identifies a rare variant in VE-PTP associated with CSC, varicose veins, and glaucoma using genome-wide data from multiple cohorts.
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.
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.