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| Retinitis pigmentosa in Spain C Ayuso, B Garcia‐Sandoval, C Najera, D Valverde, M Carballo, ... Clinical genetics 48 (3), 120-122, 1995 | 98 | 1995 |
| Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II E Aller, T Jaijo, M Beneyto, C Najera, S Oltra, C Ayuso, M Baiget, ... Journal of medical genetics 43 (11), e55-e55, 2006 | 90 | 2006 |
| Homozygous tandem duplication within the gene encoding the β‐subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa M Bayés, M Giordano, S Balcells, D Grinberg, L Vilageliu, I Martínez, ... Human Mutation 5 (3), 228-234, 1995 | 90 | 1995 |
| Consensus clinical management guidelines for Alström syndrome N Tahani, P Maffei, H Dollfus, R Paisey, D Valverde, G Milan, JC Han, ... Orphanet journal of rare diseases 15, 1-22, 2020 | 89 | 2020 |
| Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71 DY Nishimura, LM Baye, R Perveen, CC Searby, A Avila-Fernandez, ... The American Journal of Human Genetics 86 (5), 686-695, 2010 | 89 | 2010 |
| Alström syndrome: current perspectives M Álvarez-Satta, S Castro-Sánchez, D Valverde The application of clinical genetics, 171-179, 2015 | 78 | 2015 |
| Bardet-Biedl syndrome as a chaperonopathy: dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12) M Álvarez-Satta, S Castro-Sánchez, D Valverde Frontiers in molecular biosciences 4, 55, 2017 | 76 | 2017 |
| N-acetyltransferase 2 polymorphisms and risk of anti-tuberculosis drug-induced hepatotoxicity in Caucasians V Leiro-Fernandez, D Valverde, R Vázquez-Gallardo, M Botana-Rial, ... The International journal of tuberculosis and lung disease 15 (10), 1403-1408, 2011 | 73 | 2011 |
| Novel Mutations in BMPR2, ACVRL1 and KCNA5 Genes and Hemodynamic Parameters in Patients with Pulmonary Arterial Hypertension G Pousada, A Baloira, C Vilariño, JM Cifrian, D Valverde PLoS One 9 (6), e100261, 2014 | 65 | 2014 |
| Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele D Valverde, R Riveiro-Alvarez, S Bernal, K Jaakson, M Baiget, R Navarro, ... Mol Vis 12 (1), 902-8, 2006 | 65 | 2006 |
| Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families S Castro-Sánchez, M Álvarez-Satta, M Cortón, E Guillén, C Ayuso, ... Journal of Medical Genetics 52 (8), 503-513, 2015 | 60 | 2015 |
| Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation S Bernal, C Meda, T Solans, C Ayuso, B Garcia‐Sandoval, D Valverde, ... Clinical genetics 68 (3), 204-214, 2005 | 59 | 2005 |
| Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I T Jaijo, E Aller, S Oltra, M Beneyto, C Najera, C Ayuso, M Baiget, ... Human mutation 27 (3), 290-291, 2006 | 57 | 2006 |
| Absence of Activating Mutations in the EGFR Kinase Domain in Spanish Head and Neck Cancer Patients Y Lemos-González, M Páez de la Cadena, FJ Rodríguez-Berrocal, ... Tumor Biology 28 (5), 273-279, 2007 | 47 | 2007 |
| Arrayed primer extension technology simplifies mutation detection in Bardet–Biedl and Alström syndrome I Pereiro, BE Hoskins, JD Marshall, GB Collin, JK Naggert, ... European Journal of Human Genetics 19 (4), 485-488, 2011 | 46 | 2011 |
| Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients D Valverde, R Riveiro-Alvarez, J Aguirre-Lamban, M Baiget, M Carballo, ... Investigative ophthalmology & visual science 48 (3), 985-990, 2007 | 45 | 2007 |
| New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping I Pereiro, D Valverde, T Piñeiro-Gallego, M Baiget, S Borrego, C Ayuso, ... Molecular vision 16, 137, 2010 | 44 | 2010 |
| Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension G Pousada, V Lupo, S Cástro-Sánchez, M Álvarez-Satta, ... Scientific Reports 7 (1), 1923, 2017 | 35 | 2017 |
| Complexity of phenotype–genotype correlations in Spanish patients with RDH12 mutations D Valverde, I Pereiro, E Vallespín, C Ayuso, S Borrego, M Baiget Investigative ophthalmology & visual science 50 (3), 1065-1068, 2009 | 35 | 2009 |
