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Authors
Mehta, Sarju G. https://orcid.org/0000-0003-0446-3435
Holden, Simon https://orcid.org/0009-0001-8314-5816
Babar, Judith
Karia, Sumit
Wetscherek, Maria T. A. https://orcid.org/0000-0003-2924-7587
Barker, Allanah P. https://orcid.org/0009-0004-4660-9978
White, Jessica
Lee, Sunwoo Liv https://orcid.org/0000-0003-2806-3268
Foster, Alison
Maher, Eamonn R. https://orcid.org/0000-0002-6226-6918
Marciniak, Stefan J. https://orcid.org/0000-0001-8472-7183
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Funding
Funding for this research was provided by:
RCUK | MRC | Medical Research Foundation (MR/Y011813/1)
Rosetrees Trust
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Article History
Received: 26 September 2025
Revised: 1 January 2026
Accepted: 2 February 2026
First Online: 25 February 2026
Competing interests
: The authors declare no competing interests.
: Ethical approval was provided by the South Birmingham Research Ethics Committee for the Molecular Pathology of Human Genetic Disease (HumGenDis) study, 100,000 Genomes Project Bioresource REC approval 14/EE/1112. The study was approved by the University of Cambridge Human Biology Research Ethics Committee HBREC.2020.28.
: Written informed consent for publication of individual details and images was obtained from each individual.
