Author
MRC Cognition and Brain Sciences UnitORCID 0009-0003-9094-5074Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker
This study describes the age-related clinical and neuroimaging features of SYT1-associated neurodevelopmental disorder in 39 individuals with de novo variants.
Josefine Eck, Tess A. Smith, Anna Kolesnik…·Kate Baker
The paper investigates the phenotypic variation in synaptic vesicle cycling disorders by clustering patients with and without these disorders to identify distinct neurodevelopmental profiles.
Jessica Alice Martin, Alkistis Mavrogalou-Foti, Josefine Eck…·Kate Baker
This study reviews CASK-related disorder characteristics in 151 individuals, comparing recently diagnosed cases to prior reports and identifying new associations like sleep difficulties and cerebral visual impairment.
Paul Yangho Park, Lauren E. Bleakley, Nadia Saraya…·Sarah L. Gordon
The paper shows that SYT1 variants impair exocytosis, correlating with neurodevelopmental symptoms, suggesting a genotype-function-phenotype relationship.