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BMC Medical Genetics|June 11, 2011
ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control studyBerta Almoguera, Rosa Riveiro-Alvarez, Jorge Lopez-Castroman, et al.
NPJ Genomic Medicine|February 24, 2021
Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophiesIonut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, et al.
Acta Ophthalmologica|November 20, 2014
Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 familiesPatricia Fernandez-San Jose, Fiona Blanco-Kelly, Marta Corton, 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.
American Journal of Ophthalmology|May 27, 2019
Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1Marta Del Pozo-Valero, Inmaculada Martin-Merida, Belen Jimenez-Rolando, et al.
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.
Molecular Vision|May 10, 2011
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophiesMaria Garcia-Hoyos, Carmen Laura Auz-Alexandre, Berta Almoguera, 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|March 28, 2009
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisisRosa Riveiro-Alvarez, Maria-Jose Trujillo-Tiebas, Ascension Gimenez-Pardo, 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.
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