Karri Kaivola

The paper investigates intergenerational instability of C9orf72 hexanucleotide repeats, finding increased instability in alleles with >20 repeats and a paternal expansion bias in 20-40 repeat alleles.

This study traces the geographic origin of a Finnish founder variant causing gelsolin amyloidosis using haplotype sharing trees and estimates its most recent common ancestor.

The paper investigates genetic interactions between SNCA and APOE in synucleinopathies using GWAS data and finds no significant epistatic interactions after multiple testing correction.

The paper uses haplotype sharing trees and HAPTK to show that intermediate-length C9orf72 repeat alleles share haplotypes with the hexanucleotide repeat expansion, suggesting they are potential premutation alleles.