Volkan Okur

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 compares the diagnostic yield of genome sequencing and targeted gene panel testing in diverse pediatric patients, finding higher yields with genome sequencing in most groups but not all.

This study evaluates rapid genome sequencing in infants with congenital heart disease, finding genetic diagnoses in 27% of cases and clinical management changes in 62% of diagnosed infants.