Document is current
Any future updates will be listed below
-
Authors
Pei, Yang https://orcid.org/0000-0002-0115-5851
Calpena, Eduardo
Brown, Jill M.
Schwessinger, Ron
Platts, Lucy
McGowan, Simon J.
Ashraf, Tazeen
Forzano, Francesca
Hurst, Jane A.
Jones, Wendy D.
Sarkar, Ajoy
Gibbons, Richard J.
Twigg, Stephen R. F. https://orcid.org/0000-0001-5024-049X
Wilkie, Andrew O. M. https://orcid.org/0000-0002-2972-5481
-
Funding
Funding for this research was provided by:
European Social Fund Plus
UKRI Medical Research Council (MR/T031670/1)
NIHR Oxford Biomedical Research Centre
VTCT Foundation
- License Information
-
More Information
Article History
Received: 1 March 2025
Accepted: 29 October 2025
First Online: 13 November 2025
Declarations
:
: The clinical studies were approved by the relevant Research Ethics Committees (REC): London–Riverside REC (09/H0706/20 for Genetic Basis of Craniofacial Malformation), and East of England–Cambridge South REC (14/EE/1112 for 100kGP). Written informed consent was provided by each individual, or in the case of children, their parent, to obtain blood samples for genetics research, as required by the corresponding REC. All research conformed to the ethical principles of the Helsinki Declaration.
: The individuals in this study, or their parents/guardians, have had sight of this article and provided written consent for publication of patient-related information that could potentially identify them.
: The authors declare no competing interests.
