Dueñas Rey, Alfredo
del Pozo Valero, Marta
Bouckaert, Manon
Wood, Katherine A
Van den Broeck, Filip
Daich Varela, Malena
Thomas, Huw B
Van Heetvelde, Mattias
De Bruyne, Marieke
Van de Sompele, Stijn
Bauwens, Miriam
Lenaerts, Hanne
Mahieu, Quinten
Josifova, Dragana
Rivolta, Carlo
O’Keefe, Raymond T
Ellingford, Jamie
Webster, Andrew R
Arno, Gavin
Ayuso, Carmen
De Zaeytijd, Julie
Leroy, Bart P
De Baere, Elfride
Coppieters, Frauke http://orcid.org/0000-0001-7224-0992
,
Funding for this research was provided by:
Bijzonder Onderzoeksfonds UGent (BOF20/GOA/023, BOF20/GOA/023, BOF/STA/201909/016, 1SD8924N)
H2020 Marie Skłodowska-Curie Actions (813490, 813490, 813490)
Universitair Ziekenhuis Gent (NucleUZ, NucleUZ)
Foundation Fighting Blindness (TA-GT-0621-0810-UGENT)
European Joint Programme on Rare Disease (EJPRD19-234 Solve-RET)
Fundación Alfonso Martín Escudero (Convocatoria 2022)
Instituto de Salud Carlos III (FIS: PI22/00321)
University Chair UAM-IIS-FJD of Genomic Medicine
Fight for Sight UK (5045/46)
National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology
Article History
Received: 16 June 2023
Accepted: 15 December 2023
First Online: 6 January 2024
Declarations
:
: The participants from the GE sub-cohort consented to participate in the Rare Disease arm of the 100,000 Genomes Project. The participants from the CMGG sub-cohort consented to genetic testing at the Center for Medical Genetics Ghent. The 100,000 Genomes Project Protocol has ethical approval from the HRA Committee East of England – Cambridge South (REC Ref 14/EE/1112). This study was registered with Genomics England within the <i>Hearing and sight domain</i> under Research Registry Projects 465. This study was approved by the ethics committee for Ghent University Hospital (B6702021000312). The studies have been conducted in accordance with the tenets of the Helsinki Declaration and subsequent reviews.
: Not applicable. We present only de-identified data.
: The authors declare that they have no competing interests.