Items where authors include "Webster, A.R."

Article

Quinodoz, M., Rodenburg, K., Cvackova, Z. et al. (185 more authors) (2026) De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. Nature Genetics, 58. pp. 169-179. ISSN 1061-4036

Chang, L. orcid.org/0009-0003-5223-7616, Poulter, J.A. orcid.org/0000-0003-2048-5693, Webster, A.R. et al. (6 more authors) (2025) RP9 revisited; RP9 p.(H137L) remains a likely cause of dominant splicing factor-Retinitis Pigmentosa. European Journal of Human Genetics. ISSN 1018-4813

Hunt, C., Yoon, H.-J., Lirio, A. et al. (19 more authors) (2025) Genome-wide insights into the genes and pathways shaping human foveal development: redefining the genetic landscape of foveal hypoplasia. Investigative Ophthalmology & Visual Science, 66 (12). p. 22. ISSN 0146-0404

Cipriani, V. orcid.org/0000-0002-0839-9955, Vestito, L. orcid.org/0000-0003-0008-936X, Magavern, E.F. orcid.org/0000-0003-0699-6411 et al. (58 more authors) (2025) Rare disease gene association discovery in the 100,000 Genomes Project. Nature. ISSN 0028-0836

Toms, M., Dubis, A.M., de Vrieze, E. et al. (11 more authors) (2020) Clinical and preclinical therapeutic outcome metrics for USH2A-related disease. Human Molecular Genetics, 29 (11). pp. 1882-1899. ISSN 0964-6906