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Authors
Hock, Daniella H.
Caruana, Nikeisha J.
Semcesen, Liana N.
Lake, Nicole J.
Formosa, Luke E.
Amarasekera, Sumudu S. C.
Stait, Tegan
Tregoning, Simone
Frajman, Leah E.
Bournazos, Adam M.
Robinson, David R. L.
Ball, Megan
Reljic, Boris
Ryder, Bryony
Wallis, Mathew J.
Vasudevan, Anand
Beck, Cara
Peters, Heidi
Lee, Joy
Tan, Natalie B.
Freckmann, Mary-Louise
,
Filipovska, Aleksandra
Stojanovski, Diana
Coman, David
Murray, Sean
Davis, Ryan L.
Ghaoui, Roula
Sallevelt, Suzanne C. E. H.
Simons, Cas
Siira, Stefan J.
Balasubramaniam, Shanti
MacArthur, Daniel G.
Elbaum, Yoni
Atthow, Catherine
McGrath, Pauline
Martin, Ellenore M.
Harris, Madeleine
Karlaftis, Vasiliki
Attard, Chantal
Monagle, Paul
Samarasinghe, Amanda
Brown, Rosie
Bi, Weimin
Lek, Monkol
McFarland, Robert
Taylor, Robert W.
Ryan, Michael T.
Cooper, Sandra T.
Stark, Zornitza
Christodoulou, John
Compton, Alison G.
Thorburn, David R.
Stroud, David A.
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Funding
Funding for this research was provided by:
Mito Foundation
Medical Research Future Fund (2016030)
Medical Research Future Fund (GHFM76747)
Medical Research Future Fund (2016030)
Medical Research Future Fund (2016030)
Medical Research Future Fund (2016030)
National Health and Medical Research Council (2010149)
National Health and Medical Research Council (2010939)
National Health and Medical Research Council (1164479)
National Health and Medical Research Council (1140906)
Royal Children’s Hospital Foundation (1377)
Royal Children’s Hospital Foundation (1377)
Royal Children’s Hospital Foundation (1377)
Wellcome Trust Centre for Mitochondrial Research (203105/Z/16/Z)
Mitochondrial Disease Patient Cohort (G0800674)
Medical Research Council (MR/W019027/1)
Lily Foundation
U.S. Department of Defense (PR170396)
U.S. Department of Defense (PR170396)
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Article History
Received: 18 September 2024
Accepted: 2 April 2025
First Online: 22 May 2025
Declarations
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: This study was conducted in accordance with the revised Declaration of Helsinki and following the Australian National Health and Medical Research Council statement of ethical conduct in research involving humans. Samples were obtained after receiving written, informed consent for diagnostic or research investigations and publication from the respective responsible human ethics institutional review boards. HREC/RCH/34228, HREC/RCH/34183, HREC/89419/RCHM-2022 and HREC/82160/RCHM-2022 were approved by the Royal Children’s Hospital, Melbourne, Ethics in Human Research Committee. HREC/16/MH/251 was approved by the Melbourne Hospital Ethics in Human Research Committee. The REC reference 2002/205 by the Newcastle and North Tyneside Local Research Ethics Committee. Protocol 10/CHW/45 renewed with protocol 2019/ETH11736 (July 2019–March 2025) was approved by Sydney Children’s Hospitals Network Human Research Ethics Committee.
: Details from most participants have been published previously as noted in Additional file : Table S1. Unless specified below, participants were enrolled into one of a range of Institutional Review Board (IRB) approved study protocols listed in the Ethics approval and consent to participate section, including consent for data sharing and publication. Three of the validation cohort (VC) participants have not been published previously, and the parents of two (VC15, VC24) provided written consent for publication and clinical summaries are provided in Additional file . VC13 was lost to follow-up and we are unable to include identifiable data thus clinical details are not included for privacy reasons. If these data are needed for valid clinical reasons, such as variant curation, please contact david.thorburn@mcri.edu.au.
: S.T.C is named inventor of Intellectual Property (IP) related to novel methods to identify splicing variants (WO2020097660A1, WO2020/181333). This IP is owned jointly by The University of Sydney and Sydney Children’s Hospitals Network. S.T.C is Director of Frontier Genomics Pty Australia which has licensed this IP. S.T.C currently receives no remuneration for this Director role. The remaining authors declare that they have no competing interests.
