Osma S. Rautila

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 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.