Judy Savige

The population frequency of predicted pathogenic variants in the genes associated with Autosomal Dominant Polycystic Liver Disease (ADPLD) and kidney cysts

Autosomal dominant polycystic liver disease (ADPLD) commonly results from pathogenic variants in one of 7 genes ( GANAB, ALG8, ALG9, PRKCSH, SEC63 and possibly LRP5 and SEC61B) . These genes are also included in kidney panels because pathogenic variants cause kidney cysts but rar...

Scaling up Genomics

Introduction: Genomic testing has substantial diagnostic and clinical value in nephrology, yet integrating testing into routine care requires service-level changes to ensure timely and equitable access. Methods: We conducted an observational cohort study at four tertiary centres,...