Emma E. M. Knowles

The paper develops FunBurd to analyze gene dosage effects on 43 traits in UK-Biobank, finding pleiotropy and non-monotonic responses linked to genetic constraint and brain-specific mechanisms.

The paper develops a method to analyze genomic deletions and duplications across the cerebral cortex and finds opposing effects on cognitive ability depending on gene expression patterns in different cortical regions.

The paper investigates genetic overlaps between categorical and dimensional models of bipolar disorder using a family sample and finds significant heritability and genetic correlations.

The paper identifies a CNV duplication associated with higher cognitive ability and shows gene-dosage effects differ between deletions and duplications across biological processes.

The paper examines CNV frequency differences across genetic ancestry groups and finds lower prevalence of deleterious CNVs in non-European ancestry groups.