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Authors
Martin-Geary, Alexandra C.
Blakes, Alexander J.M.
Dawes, Ruebena
Findlay, Scott D.
Lord, Jenny
Dong, Shan
Walker, Susan
Talbot-Martin, Jonathan
Wieder, Nechama
D’Souza, Elston N.
Fernandes, Maria
Hilton, Sarah
Lahiri, Nayana
Campbell, Christopher
Jenkinson, Sarah
DeGoede, Christian G.E.L.
Anderson, Emily R.
Candler, Toby
Firth, Helen
Burge, Christopher B.
Sanders, Stephan J.
Ellingford, Jamie
Baralle, Diana
Banka, Siddharth
Whiffin, Nicola
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Article History
Received: 21 November 2024
Accepted: 27 March 2025
First Online: 14 April 2025
Declarations
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: Ethics approval was granted by the HRA Committee East of England – Cambridge South (REC Ref 14/EE/1112). This research conforms to the principles of the Helsinki Declaration.All participants provided informed consent for their data to be part of the National Genomics Research Library and for use in research and publication.
: All participants in this study have provided consent for their data to be part of the National Genomics Research Library and to the publication of research findings. For all cases, written informed consent for research use of clinical and genetic data was obtained from patients, their parents, or legal guardians in the case of those with intellectual disability.
: The authors declare no competing interests.
