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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z, Whelan L, Ben-Yosef T, Dockery A, Corradi Z, Gilissen C, Haer-Wigman L, Corominas J, Astuti GDN, de Rooij L, van den Born LI, Klaver CCW, Hoyng CB, Wynne N, Duignan ES, Kenna PF, Cremers FPM, Farrar GJ, Roosing S. Fadaie Z, et al. Among authors: wynne n. NPJ Genom Med. 2021 Nov 18;6(1):97. doi: 10.1038/s41525-021-00261-1. NPJ Genom Med. 2021. PMID: 34795310 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. Among authors: wynne n. Adv Exp Med Biol. 2019;1185:203-207. doi: 10.1007/978-3-030-27378-1_33. Adv Exp Med Biol. 2019. PMID: 31884612
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: wynne n. 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 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: wynne nc. 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.
Mohs micrographic surgery for periocular skin tumours in Ireland.
Treacy MP, Wynne NC, Gale JL, Duignan E, Moran B, Flynn AM, Ormond P, Barry R, Khan R, Moriarty P, Cassidy L. Treacy MP, et al. Among authors: wynne nc. Ir J Med Sci. 2016 Nov;185(4):779-783. doi: 10.1007/s11845-015-1296-3. Epub 2015 Jul 11. Ir J Med Sci. 2016. PMID: 26159430
58 results