Author
MRC Cognition and Brain Sciences UnitORCID 0000-0002-5689-3368Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
3 papers
Recent·Most cited
Alice Smail, Reem Al‐Jawahiri, Kate Baker
The paper analyzes phenotypic similarities and differences in developmental conditions caused by rare variants in PcG and TrxG genes using data-driven methods, revealing phenotypic convergence and heterogeneity.
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.
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.