Kimberley Marie Kendall

The paper recalculates CNV penetrance for intellectual disability, showing lower estimates due to methodological differences, and recommends phenotype-specific risk reporting.

The paper analyzes diffusion tensor imaging data from UK Biobank to show that 15q11.2 copy-number variation affects white matter and is associated with cognitive performance.

The paper estimates the rate of de novo CNVs in healthy individuals using UK Biobank data and compares it to previous studies.

The paper examines the effects of pathogenic CNVs on biochemical and haematology markers using UK Biobank data, finding significant associations and unexpected lipid level reductions in CNV carriers.

This study conducts the largest genetic association analysis of psychotic experiences in the UK Biobank, identifying four genome-wide significant loci and showing shared genetic risk with schizophrenia, depression, bipolar disorder, and neurodevelopmental disorders.

The paper examines subcortical brain volume differences between schizophrenia-associated CNV carriers and non-carriers in UK Biobank, finding reduced volumes in some structures and partial mediation by cognitive impairment.

The paper investigates the effects of pathogenic CNVs on physical traits in UK Biobank adults, finding 214 significant associations with traits like weight and body fat.

This study examines the medical consequences of pathogenic CNVs in adults using UK Biobank data, finding significant associations between CNVs and various health outcomes.

This study examines phenotypic and genetic characteristics of adults diagnosed with ASD, finding high psychiatric comorbidity and increased polygenic risk for common ASD variants.

The paper investigates the role of rare copy number variants (CNVs) in depression, finding that neurodevelopmental CNVs are associated with increased depression risk.