Emma Mitchell

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

Disrupting Akt-Wnt/β-catenin signaling suppresses glioblastoma stem cell growth and tumor progression in immunocompetent mice

This study shows that inhibiting Akt with MK-2206 suppresses glioblastoma growth and progression in mice, outperforming a β-catenin inhibitor in vitro and in vivo.