Mary E. Norton

This study quantifies how patient-level factors and site-level practices affect diagnostic yield in exome and genome sequencing across five clinical sites.

The study finds no association between diagnostic yield of exome sequencing and genetic ancestry in a diverse pediatric and prenatal cohort.

This study reviews the cost and clinical utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in pediatric genetic disease diagnosis, finding limited evidence of WGS superiority over WES in changing clinical management.

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.