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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.
XOLARIS: A 24-Month, Prospective, Natural History Study of 201 Participants with Retinitis Pigmentosa GTPase Regulator-Associated X-Linked Retinitis Pigmentosa.
MacLaren RE, Duncan JL, Fischer MD, Lam BL, Meunier I, Pennesi ME, Sankila EK, Gow JA, Li J, Tsang SF; XOLARIS Study Group. MacLaren RE, et al. Ophthalmol Sci. 2024 Aug 13;5(1):100595. doi: 10.1016/j.xops.2024.100595. eCollection 2025 Jan-Feb. Ophthalmol Sci. 2024. PMID: 39493534 Free PMC article.
Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation.
Tsikandelova R, Galo E, Cerniauskas E, Hallam D, Georgiou M, Cerna-Chavez R, Atkinson R, Palmowski P, Burté F, Davies T, Steel DH, McKibbin M, Bond J, Haggarty J, Whitfield P, Korolchuk V, Armstrong L, Yang C, Dorgau B, Kurzawa-Akanbi M, Lako M. Tsikandelova R, et al. Among authors: mckibbin m. Stem Cell Reports. 2024 Aug 13;19(8):1107-1121. doi: 10.1016/j.stemcr.2024.06.002. Epub 2024 Jul 3. Stem Cell Reports. 2024. PMID: 38964324 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; UK Biobank Eye and Vision Consortium; International Glaucoma Genetics Consortium. Stuart KV, et al. Ophthalmol Glaucoma. 2024 Sep-Oct;7(5):499-511. doi: 10.1016/j.ogla.2024.04.010. Epub 2024 May 8. 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 Oct;38(14):2737-2743. doi: 10.1038/s41433-024-03110-4. Epub 2024 May 6. 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 Sep;38(13):2596-2602. doi: 10.1038/s41433-024-03087-0. Epub 2024 Apr 23. Eye (Lond). 2024. PMID: 38653751
223 results