Author
University Medical Center Utrecht
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
4 papers
Recent·Most cited
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.
Jet van der Spek, Joery den Hoed, Lot Snijders Blok…·Tjitske Kleefstra
The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.
Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu
The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.
Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun…·Tjitske Kleefstra
This study characterizes SETD1A haploinsufficiency in humans and Drosophila, identifying a novel neurodevelopmental syndrome with cognitive and developmental symptoms.