Mary Huang

Parkville, VIC, Australia

Last Updated: 09/26/2026

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Found 13 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

'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

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

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits.

Journal: Frontiers in medicine

Published: June 16, 2025

Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.

Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: March 07, 2025

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.

Journal: Scientific reports

Published: February 28, 2025

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Population Frequency of Undiagnosed Fabry Disease in the General Population.

Journal: Kidney international reports

Published: January 09, 2023

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome.

A Systematic Review of Pathogenic COL4A5 Variants and Proteinuria in Women and Girls With X-linked Alport Syndrome.

Journal: Kidney international reports

Published: July 26, 2022

Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome.

Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome.

Journal: Frontiers in medicine

Published: January 29, 2022

Showing 1-12 of 13

Last Updated: 09/26/2026