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Authors
Jaramillo Oquendo, Carolina https://orcid.org/0000-0002-9875-0998
Ferraro, Federico https://orcid.org/0000-0003-1365-2529
Wai, Htoo A.
Ferrao, Heather
van der Linde, Herma
Karelioti, Evita
Tseng, Liz
Dhillon, Harsharan
Holt, Sam
Bunyan, David J. https://orcid.org/0000-0001-8686-558X
Donker Kaat, Laura
van Dooren, Marieke
Zhou, Jeff
Ennis, Sarah https://orcid.org/0000-0003-2648-0869
Holloway, John W. https://orcid.org/0000-0001-9998-0464
van Ham, Tjakko J. https://orcid.org/0000-0002-2175-8713
Baralle, Diana https://orcid.org/0000-0003-3217-4833
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Funding
Funding for this research was provided by:
DH | National Institute for Health Research (RP-2016-07-011)
DH | National Institute for Health Research (NIHR303895)
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Article History
Received: 4 July 2025
Revised: 6 January 2026
Accepted: 4 February 2026
First Online: 10 March 2026
Competing interests
: L.T., H.D., S.H., and J.Z. are current or former employees and shareholders of Pacific Biosciences stock.
: Informed consent was obtained, and all individuals or their legal guardians provided written consent to share anonymized clinical and analysis data. Participants were enroled into the University of Southampton’s Splicing and Disease study with appropriate ethical approval (REC 11/SC/0269, IRAS 49685, ERGO 23056). Use of genome-wide technologies for diagnostic purposes was previously approved for individuals from the Erasmus MC (Institutional-review-board MEC-2012-387).
