Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol
The KidGen National Kidney Genomics Study is a coordinated, multidisciplinary extension of previous research projects that aims to assess the diagnostic yield of advanced genomic approaches. The study's evidence will drive changes to current diagnostic pathways, including identifying which chronic kidney disease patients are most likely to benefit from a more comprehensive genomic approach to diagnosis.
Authors
- Amali Mallawaarachchi (ORCID: https://orcid.org/0000-0002-1229-1701)
- Daniel G. MacArthur (ORCID: https://orcid.org/0000-0002-5771-2290)
- Ian Smyth (ORCID: https://orcid.org/0000-0002-1727-7829)
- Sam Crafter
- Andrew John Mallett (ORCID: https://orcid.org/0000-0002-8752-2551)
- Cas Simons (ORCID: https://orcid.org/0000-0003-3147-8042)
- Thomas Forbes (ORCID: https://orcid.org/0000-0001-6635-8855)
- Melissa H. Little (ORCID: https://orcid.org/0000-0003-0380-2263)
- Aron Chakera (ORCID: https://orcid.org/0000-0003-3369-4187)
- Christine Mincham
- Tessa Mattiske (ORCID: https://orcid.org/0000-0002-9581-5370)
- Gopala K. Rangan (ORCID: https://orcid.org/0000-0002-2147-0998)
- Peter Trnka (ORCID: https://orcid.org/0000-0002-5584-2622)
- Erik Biroš (ORCID: https://orcid.org/0000-0003-1154-5367)
- Kushani Jayasinghe (ORCID: https://orcid.org/0000-0002-9268-8505)
- Hugh J. McCarthy (ORCID: https://orcid.org/0000-0001-7357-4310)
- Kathy Nicholls (ORCID: https://orcid.org/0000-0002-1297-8722)
- Jessica Ryan (ORCID: https://orcid.org/0000-0003-2007-6021)
- Zornitza Stark (ORCID: https://orcid.org/0000-0001-8640-1371)
- Tiffany Boughtwood (ORCID: https://orcid.org/0000-0002-9634-3731)
- Stephen I. Alexander (ORCID: https://orcid.org/0000-0002-3609-4446)
- Catherine Quinlan (ORCID: https://orcid.org/0000-0003-2746-6903)
- Ira W. Deveson (ORCID: https://orcid.org/0000-0003-3861-0472)
- Laura Wedd
- A Leaver (ORCID: https://orcid.org/0009-0000-5243-7720)
- Jeffrey Braithwaite (ORCID: https://orcid.org/0000-0003-0296-4957)
- Trudie Harris (ORCID: https://orcid.org/0009-0009-4760-8957)
- Matthew Jose (ORCID: https://orcid.org/0000-0002-9589-0071)
- Chirag Patel (ORCID: https://orcid.org/0000-0002-2486-4159)
- Randall Faull
- Michael C. Quinn (ORCID: https://orcid.org/0000-0002-4501-5746)
- Madhivanan Sundaram
- Lilian Johnstone
Institutions
- The University of Sydney (AU)
- Royal Adelaide Hospital (AU)
- The Royal Melbourne Hospital (AU)
- Royal Children's Hospital (AU)
- Garvan Institute of Medical Research (AU)
- The University of Queensland (AU)
- The University of Melbourne (AU)
- Royal Brisbane and Women's Hospital (AU)
- Royal Prince Alfred Hospital (AU)
- Austin Hospital (AU)
- Townsville Hospital (AU)
- Australian Regenerative Medicine Institute (AU)
- Women's and Children's Hospital (AU)
- Monash Medical Centre (AU)
- Sir Charles Gairdner Hospital (AU)
- Children's Hospital at Westmead (AU)
- Royal Hobart Hospital (AU)
- Westmead Hospital (AU)
- Monash Children’s Hospital (AU)
- Victorian Clinical Genetics Services (AU)
- Monash Health (AU)
- Sydney Children's Hospital (AU)
- Royal Darwin Hospital (AU)
- Westmead Institute for Medical Research (AU)
- Murdoch Children's Research Institute (AU)
- Melbourne Genomics Health Alliance (AU)
- Monash University (AU)
- James Cook University (AU)
- Macquarie University (AU)
Publication Details
- Journal
- BMC Nephrology
- Published
- 2025-02-03
- DOI
- https://doi.org/10.1186/s12882-024-03926-y
- Citations
- 3
- Primary Topic
- Renal and related cancers
- Type
- article
- Field-Weighted Citation Impact
- 2.42
Funders
- Genomic Health
- Medical Research Council
- National Health and Medical Research Council