Lord, Jenny http://orcid.org/0000-0002-0539-9343
Oquendo, Carolina Jaramillo
Wai, Htoo A.
Douglas, Andrew G. L.
Bunyan, David J.
Wang, Yaqiong
Hu, Zhiqiang
Zeng, Zishuo
Danis, Daniel
Katsonis, Panagiotis
Williams, Amanda
Lichtarge, Olivier
Chang, Yuchen
Bagnall, Richard D.
Mount, Stephen M.
Matthiasardottir, Brynja
Lin, Chiaofeng
Hansen, Thomas van Overeem
Leman, Raphael
Martins, Alexandra
Houdayer, Claude
Krieger, Sophie
Bakolitsa, Constantina
Peng, Yisu
Kamandula, Akash
Radivojac, Predrag
Baralle, Diana
Funding for this research was provided by:
NIHR (RP-2016–07-011)
New South Wales Health (Cardiovascular Disease Senior Scientist Grant)
University of Southampton (Anniversary Fellowship)
Article History
Received: 15 June 2023
Accepted: 18 November 2023
First Online: 3 January 2024
Declarations
:
: The authors have no relevant financial or non-financial interests to disclose. On behalf of all authors, the corresponding author states that there is no conflict of interest.
: Informed consent was provided for all patients for splicing studies to be conducted. Patients were recruited from Wessex Regional Genetics Laboratory in Salisbury (52 variants) or the Splicing and Disease research study (12 variants) at the University of Southampton, ethically approved by the Health Research Authority (IRAS Project ID 49685, REC 11/SC/0269) and by the University of Southampton (ERGO ID 23056).