Kate Baker

This study examines obesity in young people with rare diseases, finding higher health service use and identifying six obesity subgroups with distinct phenotypic profiles.

The paper examines associations between ADHD and intelligence polygenic scores and developmental dimensions in children with attention, learning, and memory difficulties, finding significant links with cognitive and behavioral traits.

This study describes the age-related clinical and neuroimaging features of SYT1-associated neurodevelopmental disorder in 39 individuals with de novo variants.

This study examines parents' support needs and experiences after rapid genome sequencing, finding higher anxiety and depression in mothers and unmet support needs among parents of children with genomic diagnoses.

This study uses MEG and a recurrent neural network model to show that reduced inhibition in ZDHHC9-deficient individuals explains altered auditory processing and cortical dynamics.

The paper provides 15 genomically characterized Shigella sonnei isolates representing diverse sub-clades, with complete genome sequences and public availability for research.

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.

The paper investigates the phenotypic variation in synaptic vesicle cycling disorders by clustering patients with and without these disorders to identify distinct neurodevelopmental profiles.

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.

This study examines irritability in young people with neurodevelopmental copy number variants (ND-CNVs) and finds it is more common than in controls, independent of psychiatric diagnoses or IQ.

This study identifies genetic variants associated with cerebral visual impairment (CVI) in two cohorts and highlights phenotypic associations with neurodevelopmental disorders.

The paper uses saturation genome editing to assess DDX3X variants' functional impact, identifies pathogenic variants for neurodevelopmental disorders, and develops a classifier outperforming existing tools.

The paper shows that SYT1 variants impair exocytosis, correlating with neurodevelopmental symptoms, suggesting a genotype-function-phenotype relationship.

This study investigates how SYT1 variants affect synaptic vesicle exocytosis and clarifies that defective evoked exocytosis is the main pathogenic mechanism of SYT1-associated neurodevelopmental disorders.

This study compares social and emotional characteristics between females with DDX3X variants and those with other monogenic ID causes, finding higher anxiety and self-injurious behavior in the DDX3X group.

FarmApp is a touchscreen-based cognitive assessment tool for young people with intellectual disability, showing feasibility, validity, and sensitivity to cognitive changes and genetic influences.

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

This study examines how gene functional networks in individuals with intellectual disability relate to autism spectrum characteristics, finding that chromatin regulation networks are linked to higher Inflexibility.

The paper uses MEG data and Hidden Markov Modelling to analyze brain network dynamics in individuals with ZDHHC9-associated intellectual disability compared to controls, finding differences in resting state activation linked to gene expression.