Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration W Chen, D Stambolian, AO Edwards, KE Branham, M Othman, ... Proceedings of the National Academy of Sciences 107 (16), 7401-7406, 2010 | 610 | 2010 |
Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity JL San Millán, M Cortón, G Villuendas, J Sancho, B Peral, ... The Journal of Clinical Endocrinology & Metabolism 89 (6), 2640-2646, 2004 | 229 | 2004 |
Differential gene expression profile in omental adipose tissue in women with polycystic ovary syndrome M Cortón, JI Botella-Carretero, A Benguria, G Villuendas, A Zaballos, ... The Journal of Clinical Endocrinology & Metabolism 92 (1), 328-337, 2007 | 200 | 2007 |
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye D Lima Cunha, G Arno, M Corton, M Moosajee Genes 10 (12), 1050, 2019 | 137 | 2019 |
2017 update on the relationship between diabetes and colorectal cancer: epidemiology, potential molecular mechanisms and therapeutic implications N Gonzalez, I Prieto, L del Puerto-Nevado, S Portal-Nunez, JA Ardura, ... Oncotarget 8 (11), 18456, 2017 | 134 | 2017 |
Proteomic analysis of human omental adipose tissue in the polycystic ovary syndrome using two-dimensional difference gel electrophoresis and mass spectrometry M Cortón, JI Botella-Carretero, JA López, E Camafeita, JL San Millán, ... Human Reproduction 23 (3), 651-661, 2008 | 133 | 2008 |
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray A Ávila-Fernández, D Cantalapiedra, E Aller, E Vallespín, ... Molecular vision 16, 2550, 2010 | 124 | 2010 |
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications I Perea-Romero, G Gordo, IF Iancu, M Del Pozo-Valero, B Almoguera, ... Scientific reports 11 (1), 1526, 2021 | 95 | 2021 |
Searching urinary tumor markers for bladder cancer using a two-dimensional differential gel electrophoresis (2D-DIGE) approach E Orenes-Piñero, M Cortón, P González-Peramato, F Algaba, I Casal, ... Journal of proteome research 6 (11), 4440-4448, 2007 | 94 | 2007 |
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis M Corton, KM Nishiguchi, A Avila-Fernández, K Nikopoulos, ... PloS one 8 (6), e65574, 2013 | 91 | 2013 |
Improved resolution of the human adipose tissue proteome at alkaline and wide range pH by the addition of hydroxyethyl disulfide M Cortón, G Villuendas, JI Botella, JL San Millán, HF Escobar‐Morreale, ... Proteomics 4 (2), 438-441, 2004 | 86 | 2004 |
Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families R Riveiro-Alvarez, MA Lopez-Martinez, J Zernant, J Aguirre-Lamban, ... Ophthalmology 120 (11), 2332-2337, 2013 | 82 | 2013 |
Mutations in IMPG1 cause vitelliform macular dystrophies G Manes, I Meunier, A Avila-Fernández, S Banfi, G Le Meur, X Zanlonghi, ... The American Journal of Human Genetics 93 (3), 571-578, 2013 | 82 | 2013 |
NHEJ-mediated repair of CRISPR-Cas9-induced DNA breaks efficiently corrects mutations in HSPCs from patients with fanconi anemia FJ Román-Rodríguez, L Ugalde, L Álvarez, B Díez, MJ Ramírez, ... Cell Stem Cell 25 (5), 607-621. e7, 2019 | 78 | 2019 |
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population M Corton, SD Tatu, A Avila-Fernandez, E Vallespín, I Tapias, ... Orphanet journal of rare diseases 8, 1-12, 2013 | 72 | 2013 |
GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ... Nature 617 (7962), 764-768, 2023 | 70 | 2023 |
Genomic landscape of sporadic retinitis pigmentosa: findings from 877 Spanish cases I Martin-Merida, A Avila-Fernandez, M Del Pozo-Valero, F Blanco-Kelly, ... Ophthalmology 126 (8), 1181-1188, 2019 | 66 | 2019 |
Toward the mutational landscape of autosomal dominant retinitis pigmentosa: a comprehensive analysis of 258 Spanish families I Martin-Merida, D Aguilera-Garcia, P Fernandez-San Jose, ... Investigative ophthalmology & visual science 59 (6), 2345-2354, 2018 | 64 | 2018 |
Genetic association study of age‐related macular degeneration in the Spanish population M Brión, M Sanchez‐Salorio, M Cortón, M de la Fuente, B Pazos, ... Acta ophthalmologica 89 (1), e12-e22, 2011 | 61 | 2011 |
Panel-based NGS reveals novel pathogenic mutations in autosomal recessive retinitis pigmentosa R Perez-Carro, M Corton, I Sánchez-Navarro, O Zurita, N Sanchez-Bolivar, ... Scientific reports 6 (1), 19531, 2016 | 60 | 2016 |