Author
University Medical Center UtrechtORCID 0000-0001-5247-6965Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Maolei Gong, Jiayi Li, Yijun Liu…·Xiaoli Chen
This study identifies MARK2 variants as a cause of autism spectrum disorder by showing they disrupt the WNT/β-catenin signaling pathway and impair neural development.
Anthony J. Asmar, Rita M. Yazejian, Youmei Wu…·Achim A Werner
The paper identifies a ubiquitin switch mechanism that regulates CDC42 signaling to coordinate ectodermal patterning in vertebrate development.
Egidio Spinelli, Kyle R. Christensen, Emily M. Bryant…·Gemma L. Carvill
The paper identifies de novo MAST3 variants in individuals with epilepsy, showing they may confer gain-of-function and are restricted to excitatory neurons in the cortex.
Chiara Klöckner, Heinrich Sticht, Pia Zacher…·Konrad Platzer
This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.