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Investigative Ophthalmology & Visual Science|February 21, 2015
Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish PatientsPatricia Fernandez-San Jose, Marta Corton, Fiona Blanco-Kelly, et al.
NPJ Genomic Medicine|March 26, 2021
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disordersFrancisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, et al.
Ophthalmology|June 13, 2013
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish familiesRosa Riveiro-Alvarez, Miguel-Angel Lopez-Martinez, Jana Zernant, et al.
Experimental Eye Research|September 7, 2021
RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patientsRosario Lopez-Rodriguez, Esther Lantero, Fiona Blanco-Kelly, et al.
Investigative Ophthalmology & Visual Science|October 25, 2014
Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies familiesRocío Sánchez-Alcudia, Marta Cortón, Almudena Ávila-Fernández, et al.
Ophthalmology|March 24, 2019
Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish CasesInmaculada Martin-Merida, Almudena Avila-Fernandez, Marta Del Pozo-Valero, et al.
Scientific Reports|January 26, 2016
Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis PigmentosaRaquel Perez-Carro, Marta Corton, Iker Sánchez-Navarro, et al.
American Journal of Ophthalmology|July 4, 2020
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic VariantsMarta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, et al.
Human Mutation|March 27, 2010
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDPKonstantinos Nikopoulos, Hanka Venselaar, Rob W J Collin, et al.
Human Molecular Genetics|August 2, 2014
Analysis of the ABCA4 genomic locus in Stargardt diseaseJana Zernant, Yajing Angela Xie, Carmen Ayuso, et al.
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