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Kidney International Reports|February 22, 2021
Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical GenomicsKushani Jayasinghe, Catherine Quinlan, Andrew J Mallett, et al.
Clinical Diabetes and Endocrinology|June 9, 2024
Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literatureXi May Zhen, Stephen M Twigg, Ted Wu, et al.
Kidney International|August 29, 2017
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disordersAndrew J Mallett, Hugh J McCarthy, Gladys Ho, et al.
European Journal of Human Genetics : EJHG|September 27, 2025
PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic developmentLaura Wedd, Yvonne Hort, Chirag Patel, et al.
NPJ Genomic Medicine|July 7, 2023
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKDYvonne Hort, Patricia Sullivan, Laura Wedd, et al.
Internal Medicine Journal|April 11, 2025
Glomerular disease registry and biobank: design and baseline resultsAndrew Jeyaruban, Bhadran Bose, Vincent W Lee, et al.
BMJ Open|August 7, 2019
Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocolKushani Jayasinghe, Zornitza Stark, Chirag Patel, et al.
NPJ Genomic Medicine|March 5, 2021
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 familiesHope A Tanudisastro, Katherine Holman, Gladys Ho, et al.
Development (Cambridge, England)|May 23, 2020
A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorderLynelle K Jones, Rachel Lam, Karen K McKee, et al.
Genome Biology|May 17, 2023
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applicationsPatricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, et al.
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