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Authors
Yuen, Michaela
Zhang, Katharine
Marchant, Rhett G.
Ishimura, Ryosuke
Graham, Mark
Aung-Htut, May
Bryen, Samantha
Rius, Rocio
Marshall, Lee
Aryamanesh, Nader
Dziaduch, Gregory
Joshi, Himanshu
Weisburd, Ben
Wilton, Steve D.
Wilson, Meredith
Gear, Russell
Hennington, Lucy
Lau, Stephanie
Doyle, Helen
Krivanek, Michael
Leventer, Richard J.
White, Susan M.
Sandaradura, Sarah A.
Komatsu, Masaaki
Evesson, Frances J.
Cooper, Sandra T.
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Funding
Funding for this research was provided by:
National Health and Medical Research Council (GNT1121651)
National Health and Medical Research Council (GNT2009982)
National Health and Medical Research Council (NHMRC Investigator Grants GNT1116974, GNT2017952; NHMRC Research Grant GNT2002640)
Medical Research Future Fund (MRF2016906)
Medical Research Future Fund (Rapid Applied Research Translation Program and Genomics Health Futures Mission: MRF2015930, MRF2032931)
University of Sydney
Luminesce Alliance
Children’s Medical Research Institute “Jeans for Genes” Foundation
The University of Sydney
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Article History
Received: 29 March 2026
Revised: 7 April 2026
Accepted: 8 April 2026
First Online: 27 April 2026
Declarations
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: STC is a volunteer member of ClinGen Expert Panels: Muscular Dystrophies and Myopathies GCEP and Limb Girdle Muscular Dystrophy VCEP. STC and HJ are named Inventor of Intellectual Property (IP) relating to novel methods to identify splicing variants, at varying stages of review by International Patent Offices: WO2020097660A1 (Inventors STC and HJ) and WO2020/181333 (Inventor STC). This IP is owned jointly by The University of Sydney and Sydney Children’s Hospitals Network. STC is Director of Frontier Genomics Pty Australia which has licenced this IP and is commercialising GENEie. STC currently receives no remuneration or consultancy fees for this role.
: The study was approved by the Human Research Ethics Committee of the Children’s Hospital at Westmead, Australia (2019/ETH11736) and the Royal Children’s Hospital Human Research Ethics Committee, Australia (Rare Diseases Now: Genomic Diagnoses and Personalised Care for Children with Undiagnosed Rare Diseases; HREC/67401/RCHM-2020).
: Informed, written consent was obtained from all study participants or their guardians.
