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Authors
Low, Karen J. https://orcid.org/0000-0002-4975-9363
Foreman, Julia
Hobson, Rachel J. https://orcid.org/0000-0003-1997-9557
Kwuo, Hannah
Martinez-Cayuelas, Elena https://orcid.org/0000-0001-7375-9657
Almoguera, Berta
Marin-Reina, Purin https://orcid.org/0000-0003-3780-2077
Caraffi, Stefano G. https://orcid.org/0000-0002-5033-7854
Garavelli, Livia https://orcid.org/0000-0002-7684-3982
Woods, Emily https://orcid.org/0000-0003-2349-2688
Balasubramanian, Meena
Bayat, Allan https://orcid.org/0000-0003-4986-8006
Ockeloen, Charlotte W. https://orcid.org/0000-0003-0329-1520
Wright, Caroline M. https://orcid.org/0000-0001-6256-6315
Firth, Helen V.
Cole, Tim J. https://orcid.org/0000-0001-5711-8200
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Funding
Funding for this research was provided by:
DH | National Institute for Health Research (302303)
Wellcome Trust (WT223718/Z/21/Z)
RCUK | Medical Research Council (MR/V037307/1)
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Article History
Received: 22 August 2024
Revised: 5 August 2025
Accepted: 11 September 2025
First Online: 13 October 2025
Competing interests
: The authors declare no competing interests.
: The DDD study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South REC, and GEN/284/12 granted by the Republic of Ireland REC). All participants gave informed consent, as required by the REC. All published data were de-identified. Specific ethical approval for the growth charts development was given via a DDD Complementary Analysis Proposal Approval (CAP#371). The GenROC study received East Midlands - Nottingham Research Ethics Committee (REC) approval on 15 December 2022 and Health Research Authority approval on 9 February 2023. The ASXL3 Natural History Study, sponsored by Sheffield Children’s Hospital and The University of Sheffield (UK), received REC (23/SC/0151) and HRA approval on 2 June 2023. All participants enrolled in the study gave informed consent for anonymised data sharing to allow this collaboration.
