Elmo Saarentaus

Discovering age- and sex-specific genetic risk factors in sensorineural hearing loss: genome-wide evidence from large-scale biobank studies

This study identifies 32 new SNHL risk loci through genome-wide meta-analyses of 531,059 individuals, including age- and sex-specific differences.

Integrating GWAS meta-analysis with human brain cell mapping implicates the amygdala and the midbrain in the pathogenesis of tinnitus

The paper integrates GWAS meta-analysis with human brain cell mapping to identify genetic loci and cell types involved in tinnitus, implicating the amygdala and midbrain.

A FinnGen pilot clinical recall study for Alzheimer's disease

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

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.

Evaluation of copy number burden in specific epilepsy types from a genome-wide study of 18,564 subjects

The paper evaluates copy number burden in specific epilepsy types using a genome-wide study of 18,564 subjects, identifying novel CNV loci and showing deletion burden outside known hotspots in lesional focal epilepsies.

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.

Duplications at 19q13.33 in patients with neurodevelopmental disorders

The paper identifies dup19q13.33 as a novel syndrome locus associated with neurodevelopmental disorders and highlights four candidate genes for further study.

Heterogeneous Contribution of Microdeletions in the Development of Common Generalized and Focal epilepsies

This study examines the role of microdeletions in different epilepsy subtypes, finding enriched contributions in Genetic Generalized Epilepsy but not in Rolandic or Adult Focal Epilepsy.