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Plos One|February 24, 2017
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGHFiona Blanco-Kelly, María Palomares, Elena Vallespín, et al.
Orphanet Journal of Rare Diseases|November 19, 2014
Targeted next generation sequencing for molecular diagnosis of Usher syndromeMaría J Aparisi, Elena Aller, Carla Fuster-García, et al.
Plos One|March 19, 2015
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variabilityCristina Medina-Trillo, Francisco Sánchez-Sánchez, José-Daniel Aroca-Aguilar, et al.
Clinical Genetics|January 31, 2023
Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case reportFrancisco Martínez-Granero, Elena Martínez-Cayuelas, Cristina Rodilla, et al.
European Journal of Human Genetics : EJHG|March 14, 2026
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disordersLucía López-López, Laura Lapeña-Gil, Yolanda Benítez, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)|December 24, 2010
CD46 in a Spanish cohort of multiple sclerosis patients: genetics, mRNA expression and response to interferon-beta treatmentRoberto Alvarez-Lafuente, Fiona Blanco-Kelly, Marta Garcia-Montojo, et al.
Investigative Ophthalmology & Visual Science|May 31, 2018
Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish FamiliesInmaculada Martin-Merida, Domingo Aguilera-Garcia, Jose P Fernandez-San, et al.
Plos One|February 25, 2016
Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 CasesFiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, et al.
Scientific Reports|April 28, 2025
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRBLidia Fernández-Caballero, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, et al.
European Journal of Human Genetics : EJHG|March 30, 2023
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmiaYesim Kesim, Fabiola Ceroni, Alejandra Damián, et al.
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