Prof Judith Savige
Honorary (Professorial Fellow)
Department of Medicine
347 Scholarly works
18 Projects
HIGHLIGHTS
2026
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
Alport: Renaming an Extended Clinical Spectrum.
DOI: 10.1681/ASN.00000011062026
Journal article
Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies
DOI: 10.1093/ndt/gfaf1582026
Journal article
‘Missing’ disease-causing variants in Alport syndrome
DOI: 10.1038/s41581-026-01061-52026
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.2025.16476952024
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
2025
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/s41598-025-17881-72025
Journal article
Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database
DOI: 10.1167/iovs.66.11.732025
Journal article
Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families
DOI: 10.3390/ijms261576392025
Journal article
Erratum to “Extrarenal Clinical Features are Reported for Most Genes Implicated in Genetic Kidney Disease” [Kidney International Reports Volume 10, Issue 4, April 2025, Pages 1196-1204](S2468024925000701)(10.1016/j.ekir.2025.01.045)
DOI: 10.1016/j.ekir.2025.05.0292025
Journal article
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN
DOI: 10.1093/ndt/gfae265
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