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For: Tarilonte M, Ramos P, Moya J, Fernandez-Sanz G, Blanco-Kelly F, Swafiri ST, Villaverde C, Romero R, Tamayo A, Gener B, Calvas P, Ayuso C, Corton M. Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia. J Med Genet 2021:jmedgenet-2020-106932. [PMID: 33782094 DOI: 10.1136/jmedgenet-2020-106932] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
Number Citing Articles
1 Huang L, Peng J, Xie Y, Zhou Y, Wang X, Wang H, Gui J, Li N. Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants. Front Genet 2023;14. [DOI: 10.3389/fgene.2023.1011060] [Reference Citation Analysis]
2 Tamayo A, Núñez-Moreno G, Ruiz C, Plaisancie J, Damian A, Moya J, Chassaing N, Calvas P, Ayuso C, Minguez P, Corton M. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. Int J Mol Sci 2023;24. [PMID: 36675087 DOI: 10.3390/ijms24021562] [Reference Citation Analysis]
3 Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity. Ophthalmic Genet 2022;43:809-16. [PMID: 36695497 DOI: 10.1080/13816810.2022.2144905] [Reference Citation Analysis]
4 Kit V, Cunha DL, Hagag AM, Moosajee M. Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia. JCI Insight 2021;6:148406. [PMID: 34101622 DOI: 10.1172/jci.insight.148406] [Cited by in Crossref: 3] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]