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Year Number of Results
2014 1
2015 2
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2017 1
2018 2
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2020 4
2021 5
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2023 3
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Page 1
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story.
Al-Khuzaei S, Broadgate S, Foster CR, Shah M, Yu J, Downes SM, Halford S. Al-Khuzaei S, et al. Among authors: broadgate s. Genes (Basel). 2021 Aug 13;12(8):1241. doi: 10.3390/genes12081241. Genes (Basel). 2021. PMID: 34440414 Free PMC article. Review.
Author reply: To PMID 24480711.
Halford S, Liew G, Mackay DS, Sergouniotis PI, Holt R, Broadgate S, Volpi EV, Ocaka L, Robson AG, Holder GE, Moore AT, Michaelides M, Webster AR. Halford S, et al. Among authors: broadgate s. Ophthalmology. 2015 Apr;122(4):e22. doi: 10.1016/j.ophtha.2014.08.041. Ophthalmology. 2015. PMID: 25797088 No abstract available.
Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure.
Nolan J, Buchanan J, Taylor J, Almeida J, Bedenham T, Blair E, Broadgate S, Butler S, Cazeaux A, Craft J, Cranston T, Crawford G, Forrest J, Gabriel J, George E, Gillen D, Haeger A, Hastings Ward J, Hawkes L, Hodgkiss C, Hoffman J, Jones A, Karpe F, Kasperaviciute D, Kovacs E, Leigh S, Limb E, Lloyd-Jani A, Lopez J, Lucassen A, McFarlane C, O'Rourke AW, Pond E, Sherman C, Stewart H, Thomas E, Thomas S, Thomas T, Thomson K, Wakelin H, Walker S, Watson M, Williams E, Ormondroyd E. Nolan J, et al. Among authors: broadgate s. Genet Med. 2024 Mar;26(3):101051. doi: 10.1016/j.gim.2023.101051. Epub 2023 Dec 19. Genet Med. 2024. PMID: 38131308 Free article.
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.
Feenstra HM, Al-Khuzaei S, Shah M, Broadgate S, Shanks M, Kamath A, Yu J, Jolly JK, MacLaren RE, Clouston P, Halford S, Downes SM. Feenstra HM, et al. Among authors: broadgate s. Genes (Basel). 2022 Aug 10;13(8):1423. doi: 10.3390/genes13081423. Genes (Basel). 2022. PMID: 36011334 Free PMC article.
Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene.
Yahya S, Smith CEL, Poulter JA, McKibbin M, Arno G, Ellingford J, Kämpjärvi K, Khan MI, Cremers FPM, Hardcastle AJ, Castle B, Steel DHW, Webster AR, Black GC, El-Asrag ME, Ali M, Toomes C, Inglehearn CF; UK Inherited Retinal Dystrophy Consortium; Genomics England Research Consortium. Yahya S, et al. Ophthalmology. 2023 Jan;130(1):68-76. doi: 10.1016/j.ophtha.2022.07.023. Epub 2022 Aug 5. Ophthalmology. 2023. PMID: 35934205 Free article.
22 results