Judy Savige

Parkville, VIC, Australia

Last Updated: 09/26/2026

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Found 106 publications

Alport Syndrome May Be More Common in People of East Asian Ancestry.

Alport Syndrome May Be More Common in People of East Asian Ancestry.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: May 27, 2026

Autosomal Dominant Alport Syndrome.

Autosomal Dominant Alport Syndrome.

Journal: Journal of the American Society of Nephrology : JASN

Published: May 22, 2026

Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.

Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.

Journal: Nature reviews. Nephrology

Published: May 01, 2026

Alport: Renaming an Extended Clinical Spectrum.

Alport: Renaming an Extended Clinical Spectrum.

Journal: Journal of the American Society of Nephrology : JASN

Published: March 26, 2026

Scaling up Genomics: A Mainstream Model of Care in Nephrology.

Scaling up Genomics: A Mainstream Model of Care in Nephrology.

Journal: Clinical journal of the American Society of Nephrology : CJASN

Published: March 20, 2026

'Missing' disease-causing variants in Alport syndrome.

'Missing' disease-causing variants in Alport syndrome.

Journal: Nature reviews. Nephrology

Published: February 09, 2026

Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses.

Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses.

Journal: Scientific reports

Published: February 05, 2026

The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.

The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.

Journal: Pediatric nephrology (Berlin, Germany)

Published: December 09, 2025

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.

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.

Journal: Internal medicine journal

Published: December 02, 2025

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Journal: Investigative ophthalmology & visual science

Published: August 29, 2025

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].

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].

Journal: Kidney international reports

Published: July 18, 2025

Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families.

Lithuanian Study on COL4A3 and COL4A4 Genetic Variants in Alport Syndrome: Clinical Characterization of 52 Individuals from 38 Families.

Journal: International journal of molecular sciences

Published: June 27, 2025

Showing 1-12 of 106

Last Updated: 09/26/2026