Author
Universitair Ziekenhuis LeuvenORCID 0000-0001-9937-443XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes…·Rajesh V. Thakker
The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.
Wouter Steyaert, Lydia Sagath, German M. Demidov…·Alexander Hoischen
The paper uses HiFi long-read sequencing to identify genetic variants in undiagnosed rare disease families, finding novel diagnoses in 13% of cases and candidate variants in 4.3%.
Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen…·Daniel G. MacArthur
Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.