New variants and in silico analyses in GRK1 associated Oguchi disease.

"the variants reported in this paper have been deposited into the clinvar database ( https://www ncbi nlm nih gov/clinvar/ ) at the national center for biotechnology information under accession numbers scv001245346 - scv001245364.; the 3d homology model of human grk1 based upon the bovine grk1 crystal structure (pdb: 4pni) is available on request from the corresponding author."

"CONFLICTS OF INTEREST All the authors declare that there are no conflicts of interests."

"The authors would like to thank all the families for agreeing to participate in this study, and Roman A. Laskowski and Arun Prasad Pandurangan for assistance with VarSite and SDM respectively, and Ivet Bahar, Luca Ponzoni and the rest of the Bahar group for their help with Rhapsody. This study was supported by the European Retinal Disease Consortium (ERDC), the European Reference Network for Rare Eye Disease (ERN‐EYE) and the Japan Eye Genetics Consortium (https://www.jegc.org/). This study was funded by RP Fighting Blindness and Fight for Sight as part of the UK Inherited Retinal Disease Consortium (RP Genome Project GR586) and the UK National Health Service (NHS) Foundation Trust, the National Institute for Health Research Biomedical Research Centre (NIHR‐BRC) at Moorfields Eye Hospital and the NIHR‐BRC at Great Ormond Street Institute of Child Health, Moorfields Eye Charity and the Great Britain Sasakawa Foundation. JAP is supported by a UKRI Future Leaders Fellowship (MR/T02044X/1). MSCG is on the Wellcome Trust 4‐year PhD studentship in The Astbury Centre funded by The University of Leeds. GA is supported by a Fight For Sight (UK) Early Career Investigator Award. SAH acknowledges the EPSRC for their support (EP/S0306971/1). OM is funded by Wellcome Grant 206619_Z_17_Z. This study was made possible through access to the data and findings generated by the 100,000 Genomes Project managed by Genomics England Limited (a wholly owned company of the Department of Health and Social Care). The 100,000 Genomes Project is funded by the National Institute for Health Research and NHS England. The Wellcome Trust, Cancer Research UK and the Medical Research Council have also funded research infrastructure. The 100,000 Genomes Project uses data provided by patients and collected by the National Health Service as part of their care and support."