Alex R. Chang

This study evaluates genetic testing outcomes for kidney disease, finding 34% of patients had pathogenic variants, 52% had variants of uncertain significance (VUS), and multidisciplinary review with biobank data helped reclassify some VUS.

The paper identifies ACP1 and AURKB as regulators of cortactin-driven actin remodeling in glioblastoma invasion using CRISPRi screens in 3D hydrogels.

This study identifies that RyR2 mutation locations in CPVT patients predict earlier onset of sudden death, based on a meta-analysis of 1008 patients from 227 papers.

This study identifies informatics opportunities to improve genetic diagnosis of kidney disorders by understanding nephrologists' needs and barriers through interviews and service blueprints.

This study investigates the association between GSTM1 copy number and kidney failure risk in a large cohort, finding no significant association after adjustments.