| Influence of glutathione S‐transferase M1 and T1 homozygous null mutations on the risk of antituberculosis drug‐induced hepatotoxicity in a Caucasian population V Leiro, A Fernández‐Villar, D Valverde, L Constenla, R Vázquez, ... Liver International 28 (6), 835-839, 2008 | 156 | 2008 |
| Retinitis pigmentosa in Spain C Ayuso, B Garcia‐Sandoval, C Najera, D Valverde, M Carballo, ... Clinical genetics 48 (3), 120-122, 1995 | 97 | 1995 |
| 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 |
| 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 | 86 | 2006 |
| 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 | 85 | 2010 |
| 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 | 70 | 2017 |
| 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 | 69 | 2020 |
| Alström syndrome: current perspectives M Álvarez-Satta, S Castro-Sánchez, D Valverde The application of clinical genetics, 171-179, 2015 | 69 | 2015 |
| 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 | 67 | 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 | 64 | 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, 902-908, 2006 | 63 | 2006 |
| 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 |
| 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 | 55 | 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 | 54 | 2005 |
| Absence of Activating Mutations in the EGFR Kinase Domain in Spanish Head and Neck Cancer Patients Y Lemos-González, M Paez 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 |
| 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 | 45 | 2010 |
| 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 | 43 | 2007 |
| Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease R Riveiro-Alvarez, D Valverde, I Lorda-Sanchez, MJ Trujillo-Tiebas, ... Molecular Vision 13, 96, 2007 | 34 | 2007 |
| A novel mutation in exon 17 of the β-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family D Valverde, T Solans, D Grinberg, S Balcells, L Vilageliu, M Bayés, ... Human genetics 97, 35-38, 1996 | 33 | 1996 |
