Kaisa Teele Oja

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

This study identifies biallelic loss-of-function variants in WBP4 as a cause of a neurodevelopmental syndrome with variable manifestations.

This study evaluates if low-coverage genome sequencing can detect clinically relevant copy-number and mtDNA variants, finding that 2x coverage is sufficient for most cases.