Author
Radboud University Medical CenterORCID 0000-0003-4864-9346Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Vicente A. Yépez, Rebeka Luknárová, Danique Beijer…·Julien Gagneur
The paper presents a standardized RNA-seq analysis framework for rare disease diagnosis, identifying molecular diagnoses in 7.7% of previously undiagnosed cases.
Robin Wijngaard, Caspar I. van der Made, Sema Kalkan Uçar…·Sergio Guerrero‐Castillo
The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.
Teunis J. P. van Dam, Julie E. Kennedy, Robin van der Lee…·Martijn A. Huynen
The paper identifies 285 candidate ciliary genes using integrated genomic, proteomic, and transcriptomic data, validated by experimental evidence and creating a resource for ciliopathy research.