Items where authors include "McKibbin, M."

Article

Panneman, D.M., Hitti-Malin, R.J., McKibbin, M. et al. (12 more authors) (2025) Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy. Investigative Ophthalmology & Visual Science, 66 (6). 19. ISSN 0146-0404

Moekotte, L., de Boer, J.H., Hiddingh, S. et al. (31 more authors) (2025) Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies. Investigative Ophthalmology & Visual Science, 66 (2). 55. ISSN 0146-0404

Tsikandelova, R., Galo, E., Cerniauskas, E. et al. (18 more authors) (2024) Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation. Stem Cell Reports, 19 (8). pp. 1107-1121. ISSN 2213-6711

Basu, B. orcid.org/0000-0002-5434-5202, Karwatka, M. orcid.org/0000-0001-5375-4488, China, B. et al. (5 more authors) (2024) Glycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium. Journal of Biological Chemistry, 300 (8). 107569. ISSN 0021-9258

Atkinson, R., Georgiou, M., Yang, C. et al. (29 more authors) (2024) PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature Communications, 15 (1). 3138. ISSN 2041-1723

Hallam, D., Collin, J., Bojic, S. et al. (17 more authors) (2017) An iPSC Patient Specific Model of CFH (Y402H) Polymorphism Displays Characteristic Features of AMD and Indicates a Beneficial Role for UV Light Exposure. Stem Cells, 35 (11). pp. 2305-2320. ISSN 1066-5099