Author
Utrecht UniversityORCID 0000-0002-7146-617XUnclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà
The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.
Eric Nathaniel Anderson, Stephan Drukewitz, Sukhleen Kour…·Konrad Platzer
This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.
Hellen Lesmann, Alexander Hustinx, Shahida Moosa…·Miray Karakoyun
The paper introduces the GestaltMatcher Database (GMDB), a global facial phenotypic reference for rare diseases, showing improved NGP performance with diverse ancestry data.