Hans Matsson

This paper evaluates the clinical use of long-read genome sequencing in Sweden, showing it provides molecular diagnoses and reduces diagnostic costs.

This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.

The paper identifies rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia, suggesting a potential link between dynein dysfunction and these conditions.