Prof Judith Savige
Honorary (Professorial Fellow)
Department of Medicine
351 Scholarly works
18 Projects
HIGHLIGHTS
2026
Journal article
‘Missing’ disease-causing variants in Alport syndrome
DOI: 10.1038/s41581-026-01061-52026
Journal article
Caring for Australians and New ZealandeRs with kidney Impairment guideline commentary on kidney disease: improving global outcomes 2025 guidelines for diagnosis and management of autosomal polycystic kidney disease
DOI: 10.1111/imj.704112026
Journal article
Autosomal Dominant Alport syndrome
DOI: 10.1681/ASN.00000011582026
Journal article
Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses.
DOI: 10.1038/s41598-026-52836-62026
Journal article
Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies
DOI: 10.1093/ndt/gfaf1582024
Research grants (other domestic)
Kidney Failure in Autosomal Dominant Alport Syndrome in Humans and a Canine Model
2023
Research grants (other domestic)
\201CDevelopment of a Sensitive Cost-Effective Diagnostic Algorithm for Alport Syndrome and Other Genetic Diseases\201D
RECENT SCHOLARLY WORKS
2026
Journal article
Alport: Renaming an Extended Clinical Spectrum
DOI: 10.1681/ASN.00000011062026
Journal article
Coexisting genetic kidney disease explains many cases of ‘familial’ IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits
DOI: 10.3389/fmed.2025.16476952026
Journal article
The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population
DOI: 10.1007/s00467-026-07324-42026
Journal article
Gene–disease relationships for glomerular phenotypes: expert recommendations from ClinGen
DOI: 10.1038/s41581-026-01087-92025
Journal article
Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population
DOI: 10.1038/s41598-025-17881-7
RECENT PROJECTS
2014
Research Grant
Correcting the Mutation Defect in Alport Syndrome in Human Cell Lines Using the Talen Method - A Potentially-Curative Treatment
2014
Research Grant
Correction of Mutation in X-Linked Alport Syndrome With TALEN Strategy
2013
Research Grant
Derivation and Characterisation of Induced Pluripotent Stem Cell Lines From Patients With X-Linked Alport Syndrome - A Model for Examining Mechanisms and Therapies