Zhang, Katharine Y.
Joshi, Himanshu
Marchant, Rhett G. http://orcid.org/0000-0003-4817-9022
Bryen, Samantha J.
Dawes, Ruebena
Yuen, Michaela http://orcid.org/0000-0002-5007-4548
Cooper, Sandra T. http://orcid.org/0000-0002-7314-5097
Evesson, Frances J. http://orcid.org/0000-0002-2418-3230
Funding for this research was provided by:
Department of Health | National Health and Medical Research Council (APP1186084, APP1186084, APP1186084, APP1136197, APP1080587, APP2002640)
Article History
Received: 5 December 2023
Revised: 16 April 2024
Accepted: 9 May 2024
First Online: 27 May 2024
Competing interests
: STC is the director of Frontier Genomics Pty Ltd (Australia). STC receives no remuneration (salary or consultancy fees) for this role. Frontier Genomics Pty Ltd has no current financial interests that will benefit from the publication of this data. STC is a named inventor of intellectual property owned jointly by the University of Sydney and Sydney Children’s Hospitals Network. This IP relates to splicing variant detection and interpretation and is licenced by Frontier Genomics Pty Ltd. The remaining co-authors declare no competing interests.
: This study was approved by the Children’s Hospital at Westmead Human Research Ethics Committee (Biospecimen Bank_10/CHW/45 and 2019/ETH11736) with informed, written consent.