The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic. by Schwarz, N, Novoselova, T, Wait, R, Hardcastle, A, Cheetham, M

Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. by Stanga, P, Chong, N, Reck, A, Hardcastle, A, Holder, G

Novel retinal and cone photoreceptor transcripts revealed by human macular expression profiling. by Hornan, D, Peirson, S, Hardcastle, A, Molday, R, Cheetham, M, Webster, A

Genomic structure and pattern of alternate splicing for RIM1. A candidate gene for CORD7 by Hunt, D, Johnson, S, Halford, S, Morris, A, Patel, R, Zhang, K, Hardcastle, A, Moore, A

Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). by Johnson, S, Halford, S, Morris, A, Patel, R, Wilkie, SE, Hardcastle, A, Moore, A, Zhang, K, Hunt, D

Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. by El-Ashry, M, El-Aziz, A, Wilkins, S, Cheetham, M, Wilkie, SE, Hardcastle, A, Halford, S, Bayoumi, A, Ficker, L, Tuft, S, Bhattacharya, S, Ebenezer, N

CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy–associated TCF4 triplet repeat by Hafford-Tear, N, Tsai, Y, Sadan, A, Sanchez-Pintado, B, Zarouchlioti, C, Maher, G, Liskova, P, Tuft, S, Hardcastle, A, Clark, T, Davidson, A

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa by Fiorentino, A, Yu, J, Arno, G, Pontikos, N, Halford, S, Broadgate, S, Michaelides, M, Carss, K, Raymond, F, Cheetham, M, Webster, A, Downes, S, Hardcastle, A, NIHR-BioResource Rare Diseases Consortium, UK Inherited Retinal Dystrophy Consortium

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data by Pontikos, N, Yu, J, Moghul, I, Withington, L, Blanco-Kelly, F, Vulliamy, T, Wong, T, Murphy, C, Cipriani, V, Fiorentino, A, Arno, G, Greene, D, Jacobsen, J, Clark, T, Gregory, D, Nemeth, A, Halford, S, Inglehearn, C, Downes, S, Black, G, Webster, A, Hardcastle, A, Plagnol, V

Autosomal-dominant corneal endothelial dystrophies CHED1 and PPCD1 are allelic disorders caused by non-coding mutations in the promoter of OVOL2 by Davidson, A, Liskova, P, Evans, C, Dudakova, L, Nosková, L, Pontikos, N, Hartmannová, H, Hodaňová, K, Stránecký, V, Kozmík, Z, Levis, H, Idigo, N, Sasai, N, Maher, G, Bellingham, J, Veli, N, Ebenezer, N, Cheetham, M, Daniels, J, Thaung, C, Jirsova, K, Plagnol, V, Filipec, M, Kmoch, S, Tuft, S, Hardcastle, A