June‐Young Koh

This study uses whole-genome sequencing and functional assays to improve genetic diagnosis of sensorineural hearing loss, achieving a 55.6% diagnostic yield through comprehensive genomic profiling.

This study applies trio-based whole-genome sequencing in critically ill pediatric patients, achieving a 55% diagnostic yield and impacting patient management.

This study uses whole-genome sequencing to identify genetic variations and biological pathways associated with adolescent idiopathic scoliosis.

This study identifies NFATc1 as a suppressor of IL-15-induced NK-like activation in human memory CD8+ T cells via the Ca2+-calcineurin pathway and defines a gene signature associated with bystander activation.

This study validates a whole-genome sequencing assay for rare disease genomic profiling, showing high sensitivity and positive predictive values for variant detection.

This study evaluates the clinical utility of whole-genome sequencing in solid tumors, showing 72% of reports provided clinically relevant insights and 69% aided therapeutic decision-making.

The paper uses whole-genome sequencing to determine zygotic composition in chimeric twins, finding asymmetrical contributions from two zygotes in blood but not in buccal tissues.