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Scientific Reports|March 29, 2018
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathiesIker Sanchez-Navarro, Luciana R J da Silva, Fiona Blanco-Kelly, et al.
Plos One|April 13, 2016
A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical PracticeRocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, et al.
Human Molecular Genetics|April 18, 2015
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterationsAlmudena Avila-Fernandez, Raquel Perez-Carro, Marta Corton, et al.
Scientific Reports|January 16, 2021
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implicationsIrene Perea-Romero, Gema Gordo, Ionut F Iancu, et al.
American Journal of Ophthalmology|June 16, 2023
Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated DystrophiesCristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, et al.
International Journal of Molecular Sciences|March 13, 2024
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish CohortLidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, et al.
American Journal of Human Genetics|March 14, 2017
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesMingchu Xu, Yajing Angela Xie, Hana Abouzeid, et al.
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