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Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Among authors: keegan dj. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
A Novel FLVCR1 Variant Implicated in Retinitis Pigmentosa.
Dockery A, Carrigan M, Wynne N, Stephenson K, Keegan D, Kenna PF, Farrar GJ. Dockery A, et al. Adv Exp Med Biol. 2019;1185:203-207. doi: 10.1007/978-3-030-27378-1_33. Adv Exp Med Biol. 2019. PMID: 31884612
Surgical management of non-syndromic ectopia lentis.
Stephenson KA, O'Keefe M, Keegan DJ. Stephenson KA, et al. Among authors: keegan dj. Int J Ophthalmol. 2020 Jul 18;13(7):1156-1160. doi: 10.18240/ijo.2020.07.21. eCollection 2020. Int J Ophthalmol. 2020. PMID: 32685406 Free PMC article.
Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations.
Stephenson KAJ, Zhu J, Wynne N, Dockery A, Cairns RM, Duignan E, Whelan L, Malone CP, Dempsey H, Collins K, Routledge S, Pandey R, Crossan E, Turner J, O'Byrne JJ, Brady L, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Among authors: keegan dj. Orphanet J Rare Dis. 2021 May 5;16(1):200. doi: 10.1186/s13023-021-01841-1. Orphanet J Rare Dis. 2021. PMID: 33952326 Free PMC article.
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
Velde HM, Reurink J, Held S, Li CHZ, Yzer S, Oostrik J, Weeda J, Haer-Wigman L, Yntema HG, Roosing S, Pauleikhoff L, Lange C, Whelan L, Dockery A, Zhu J, Keegan DJ, Farrar GJ, Kremer H, Lanting CP, Damme M, Pennings RJE. Velde HM, et al. Among authors: keegan dj. Hum Genet. 2022 Nov;141(11):1723-1738. doi: 10.1007/s00439-022-02441-0. Epub 2022 Feb 28. Hum Genet. 2022. PMID: 35226187 Free PMC article.
60 results