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Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.
McClinton B, Crinnion LA, McKibbin M, Mukherjee R, Poulter JA, Smith CEL, Ali M, Watson CM, Inglehearn CF, Toomes C. McClinton B, et al. Among authors: mckibbin m. Mol Genet Genomic Med. 2023 Jun;11(6):e2164. doi: 10.1002/mgg3.2164. Epub 2023 Mar 19. Mol Genet Genomic Med. 2023. PMID: 36934458 Free PMC article.
The Association of Urinary Sodium Excretion with Glaucoma and Related Traits in a Large United Kingdom Population.
Stuart KV, Biradar MI, Luben RN, Dhaun N, Wagner SK, Warwick AN, Sun Z, Madjedi KM, Pasquale LR, Wiggs JL, Kang JH, Lentjes MAH, Aschard H, Kim J, Foster PJ, Khawaja AP; Modifiable Risk Factors for Glaucoma Collaboration, the UK Biobank Eye and Vision Consortium, and the International Glaucoma Genetics Consortium. Stuart KV, et al. Ophthalmol Glaucoma. 2024 May 7:S2589-4196(24)00074-7. doi: 10.1016/j.ogla.2024.04.010. Online ahead of print. Ophthalmol Glaucoma. 2024. PMID: 38723778 Free article.
Impact of treat and extend criteria on proportions that can be extended after loading phase of 2 mg aflibercept therapy for neovascular age related macular degeneration: PRECISE Report 5.
Thottarath S, Gurudas S, Chandak S, Patel PJ, Kotagiri A, Pearce I, McKibbin M, Menon G, Burton BJL, Talks J, Grabowska A, Ghanchi F, Gale R, Karatsai E, Chandra S, Sivaprasad S. Thottarath S, et al. Among authors: mckibbin m. Eye (Lond). 2024 May 6. doi: 10.1038/s41433-024-03110-4. Online ahead of print. Eye (Lond). 2024. PMID: 38710939
Subretinal transient hyporeflectivity in neovascular age-related macular degeneration and its response to a loading phase of aflibercept: PRECISE report 4.
Montesel A, Pakeer Muhammed R, Chandak S, Kazantzis D, Thottarath S, Chandra S, Chong V, Burton BJL, Menon G, Pearce I, McKibbin M, Kotagiri A, Talks J, Grabowska A, Ghanchi F, Gale R, Giani A, Yamaguchi TCN, Sivaprasad S. Montesel A, et al. Among authors: mckibbin m. Eye (Lond). 2024 Apr 23. doi: 10.1038/s41433-024-03087-0. Online ahead of print. Eye (Lond). 2024. PMID: 38653751
PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.
Atkinson R, Georgiou M, Yang C, Szymanska K, Lahat A, Vasconcelos EJR, Ji Y, Moya Molina M, Collin J, Queen R, Dorgau B, Watson A, Kurzawa-Akanbi M, Laws R, Saxena A, Shyan Beh C, Siachisumo C, Goertler F, Karwatka M, Davey T, Inglehearn CF, McKibbin M, Lührmann R, Steel DH, Elliott DJ, Armstrong L, Urlaub H, Ali RR, Grellscheid SN, Johnson CA, Mozaffari-Jovin S, Lako M. Atkinson R, et al. Among authors: mckibbin m. Nat Commun. 2024 Apr 11;15(1):3138. doi: 10.1038/s41467-024-47253-0. Nat Commun. 2024. PMID: 38605034 Free PMC article.
Periodontitis and Outer Retinal Thickness: a Cross-Sectional Analysis of the United Kingdom Biobank Cohort.
Wagner SK, Patel PJ, Huemer J, Khalid H, Stuart KV, Chu CJ, Williamson DJ, Struyven RR, Romero-Bascones D, Foster PJ, Khawaja AP, Petzold A, Balaskas K, Cortina-Borja M, Chapple I, Dietrich T, Rahi JS, Denniston AK, Keane PA; UK Biobank Eye & Vision Consortium. Wagner SK, et al. Ophthalmol Sci. 2024 Jan 20;4(4):100472. doi: 10.1016/j.xops.2024.100472. eCollection 2024 Jul-Aug. Ophthalmol Sci. 2024. PMID: 38560277 Free PMC article.
219 results