Prof Judith Savige
Honorary (Professorial Fellow)
Department of Medicine
351 Scholarly works
18 Projects
HIGHLIGHTS
2026
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/gfaf1582026
Journal article
Alport: Renaming an Extended Clinical Spectrum
DOI: 10.1681/ASN.00000011062026
Journal article
‘Missing’ disease-causing variants in Alport syndrome
DOI: 10.1038/s41581-026-01061-52024
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
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/s41581-026-01087-92026
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.704112025
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