Author
Radboud University Medical CenterORCID 0000-0001-5087-4759Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Emil E. Vorsteveld, Simone Kersten, Charlotte Kaffa…·Alexander Hoischen
The paper identifies uncharacterized genes differentially expressed in immune cells stimulated by pathogens and links them to rare immune disorders.
Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens…·Alexander Hoischen
This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.
Anne Hebert, Annet Simons, Janneke H. M. Schuurs-Hoeijmakers…·Caspar I. van der Made
This study evaluates the diagnostic value of trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity, identifying DNVs in immune-related genes and providing functional evidence for FBXW11 mutations.