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Plos One|July 17, 2010
CD40: novel association with Crohn's disease and replication in multiple sclerosis susceptibilityFiona Blanco-Kelly, Fuencisla Matesanz, Antonio Alcina, et al.
Molecular Vision|March 28, 2020
Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairmentGema García-García, Iker Sanchez-Navarro, Elena Aller, 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.
Plos One|July 22, 2015
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons LearnedBerta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, 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.
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.
NPJ Genomic Medicine|July 14, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndromeIrene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, 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.
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