Towards mitigating health inequity via machine learning: a nationwide cohort study to develop and validate ethnicity-specific models for prediction of cardiovascular disease risk i... by Allery, F, Pineda-Moncusí, M, Tomlinson, C, Pontikos, N, Thygesen, JH, Khalid, S, CVD-COVID-UK/COVID-IMPACT Consortium

Genetic complexity of Crohn's Disease in two large Ashkenazi Jewish families by Levine, A, Pontikos, N, Schiff, E, Jostins, L, Speed, D, Lovat, L, Barrett, J, Grasberger, H, Plagnol, V, Segal, 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

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene) by Nguyen, Q, Woof, W, Kabiri, N, Sen, S, Daich Varela, M, Cabral De Guimaraes, TA, Shah, M, Sumodhee, D, Moghul, I, Al-Khuzaei, S, Liu, Y, Hollyhead, C, Tailor, B, Lobo, L, Veal, C, Archer, S, Furman, J, Arno, G, Gomes, M, Fujinami, K, Madhusudhan, S, Mahroo, OA, Webster, AR, Balaskas, K, Downes, SM, Michaelides, M, Pontikos, N

Mutations in the spliceosome component CWC27 cause retinal degeneration with or without additional developmental anomalies by Xu, M, Xie, YA, Abouzeid, H, Gordon, CT, Fiorentino, A, Sun, Z, Lehman, A, Osman, IS, Dharmat, R, Riveiro-Alvarez, R, Bapst-Wicht, L, Babino, D, Arno, G, Busetto, V, Zhao, L, Li, H, Lopez-Martinez, MA, Azevedo, LF, Hubert, L, Pontikos, N, Eblimit, A, Lorda-Sanchez, I, Kheir, V, Plagnol, V, Oufadem, M, Soens, ZT, Yang, L, Bole-Feysot, C, Pfundt, R, Allaman-Pillet, N, Nitschké, P, Cheetham, ME, Lyonnet, S, Agrawal, SA, Li, H, Pinton, G, Michaelides, M, Besmond, C, Li, Y, Yuan, Z, Von Lintig, J, Webster, AR, Le Hir, H, Stoilov, P, UK Inherited Retinal Dystrophy Consortium, Halford, S, Amiel, J, Hardcastle, AJ, Ayuso, C, Sui, R, Chen, R, Allikmets, R, Schorderet, DF