Jukka S. Moilanen

The impact of rare protein coding genetic variation on adult cognitive function

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.

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

The paper investigates the genetic contributions to intellectual disability, finding rare variants are more common in severe cases and common variants contribute to all severity levels.

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

The paper identifies rare loss-of-function variants in KMT2F associated with schizophrenia and developmental disorders, showing their role in neurodevelopmental conditions.