Roy Quinlan's Outputs (5)

Joining European Scientific Forces to Face Pandemics (2020)
Journal Article
Vasconcelos, M. H., Alcaro, S., Arechavala-Gomeza, V., Baumbach, J., Borges, F., Brevini, T. A., Rivas, J. D. L., Devaux, Y., Hozak, P., Keinänen-Toivola, M. M., Lattanzi, G., Mohr, T., Murovska, M., Prusty, B. K., Quinlan, R. A., Pérez-Sala, D., Scheibenbogen, C., Schmidt, H. H., Silveira, I., Tieri, P., …Riganti, C. (2021). Joining European Scientific Forces to Face Pandemics. Trends in Microbiology, 29(2), 92-97. https://doi.org/10.1016/j.tim.2020.10.008

Despite the international guidelines on the containment of the coronavirus disease 2019 (COVID-19) pandemic, the European scientific community was not sufficiently prepared to coordinate scientific efforts. To improve preparedness for future pandemic... Read More about Joining European Scientific Forces to Face Pandemics.

The genetic landscape of crystallins in congenital cataract (2020)
Journal Article
Berry, V., Ionides, A., Pontikos, N., Georgiou, M., Yu, J., Ocaka, L. A., Moore, A. T., Quinlan, R. A., & Michaelides, M. (2020). The genetic landscape of crystallins in congenital cataract. Orphanet Journal of Rare Diseases, 15, Article 333. https://doi.org/10.1186/s13023-020-01613-3

Background: The crystalline lens is mainly composed of a large family of soluble proteins called the crystallins, which are responsible for its development, growth, transparency and refractive index. Disease-causing sequence variants in the crystalli... Read More about The genetic landscape of crystallins in congenital cataract.

Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization (2020)
Journal Article
Kalligeraki, A. A., Isted, A., Pal, R., Saunter, C., Girkin, J., Jarrin, M., Uwineza, A., Obara, B., & Quinlan, R. A. (2020). Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization. Scientific Reports, 10, Article 16898. https://doi.org/10.1038/s41598-020-73625-9

Organ and tissue development are highly coordinated processes; lens growth and functional integration into the eye (emmetropia) is a robust example. An epithelial monolayer covers the anterior hemisphere of the lens, and its organization is the key t... Read More about Three-dimensional data capture and analysis of intact eye lenses evidences emmetropia-associated changes and strain-dependent differences in epithelial cell organization.

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract (2020)
Journal Article
Berry, V., Ionides, A., Pontikos, N., Moghul, I., Moore, A. T., Quinlan, R. A., & Michaelides, M. (2020). Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. Genes, 11(5), Article 512. https://doi.org/10.3390/genes11050512

Pediatric cataract is clinically and genetically heterogeneous, and is the most common cause of childhood blindness worldwide. In this study, we aimed to identify disease-causing variants in three large British families and one isolated case with aut... Read More about Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract (2020)
Journal Article
Berry, V., Pontikos, N., Dudakova, L., Moore, A. T., Quinlan, R., Liskova, P., & Michaelides, M. (2020). A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic Genetics, 41(2), 131-134. https://doi.org/10.1080/13816810.2020.1737950

Background: Congenital cataract is the most common cause of blindness in the world. Congenital cataracts are clinically and genetically heterogeneous and are mostly inherited in an autosomal dominant fashion. We identified the genetic cause of isolat... Read More about A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.