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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.
Molecular Oncology|June 15, 2019
Diabetes-mediated promotion of colon mucosa carcinogenesis is associated with mitochondrial dysfunctionLaura Del Puerto-Nevado, Aranzazu Santiago-Hernandez, Sonia Solanes-Casado, et al.
Orphanet Journal of Rare Diseases|December 11, 2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathyBerta Almoguera, Sijie He, Marta Corton, 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|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.
Plos One|March 3, 2017
Colon cancer modulation by a diabetic environment: A single institutional experienceIsabel Prieto, Laura Del Puerto-Nevado, Nieves Gonzalez, et al.
Clinical Genetics|October 17, 2022
New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 geneAna Arteche-López, Almudena Avila-Fernandez, Alejandra Damian, 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.
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.
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