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Investigative Ophthalmology & Visual Science|February 4, 2022
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular DystrophiesMarta Del Pozo-Valero, Rosa Riveiro-Alvarez, Inmaculada Martin-Merida, et al.
Frontiers in Genetics|November 3, 2018
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and MicrophthalmiaMaría Tarilonte, Matías Morín, Patricia Ramos, et al.
Genes|September 28, 2021
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype CorrelationCarolina Sanchez-Jimeno, Fiona Blanco-Kelly, Fermina López-Grondona, et al.
Investigative Ophthalmology & Visual Science|February 14, 2017
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic RearrangementInmaculada Martin-Merida, Rocio Sanchez-Alcudia, Patricia Fernandez-San Jose, et al.
Molecular Therapy. Nucleic Acids|December 4, 2024
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndromeBelén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, et al.
Ophthalmology|October 23, 2013
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish populationMarta Corton, Almudena Avila-Fernandez, Elena Vallespín, et al.
Prenatal Diagnosis|March 13, 2026
Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of PregnancyAna Isabel Sanchez Barbero, Marta Rodríguez de Alba Freiría, María Jose Trujillo-Tiebas, et al.
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.
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.
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