Lea Urpa

This study identifies ultra-rare damaging variants in schizophrenia risk genes and shows they are associated with earlier hospitalizations, greater childhood adversity, and poorer neuropsychological outcomes across psychotic disorders.

This study identifies 26 risk loci for fibromyalgia through a genome-wide association analysis of 2.5 million individuals, revealing genetic links to neural functions and chronic pain disorders.

The paper identifies a loss-of-function variant in INTS6 in a family with intellectual disability, showing transcriptomic effects including splicing defects and downregulation of synaptic genes.

The paper infers circadian phase from blood biomarkers in UK Biobank using machine learning and defines a new construct, circadian acceleration, with genetic and environmental associations.

The paper identifies genetic variants associated with diurnal glucose levels and their role in type 2 diabetes risk.

This study conducts a genome-wide association study (GWAS) of ME/CFS, identifying eight genetic loci associated with the disease, suggesting involvement of immune and neurological processes.

The paper develops Blood Cell Painting (BCP) to profile immune cell morphology in healthy donors, identifying genetic and clinical associations with immune cell features.

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

The paper investigates six rare SLCO1B1 variants in Finnish individuals with psychosis, finding one variant causes loss-of-function and reduced OATP1B1 protein expression.