Runs of homozygosity reveal signatures of positive selection for reproduction traits in breed and non-breed horses J Metzger, M Karwath, R Tonda, S Beltran, L Águeda, M Gut, IG Gut, ... BMC genomics 16 (1), 1, 2015 | 130 | 2015 |
Effects of a new pathogen‐reduction technology (Mirasol PRT) on functional aspects of platelet concentrates S Perez‐Pujol, R Tonda, M Lozano, B Fuste, I Lopez‐Vilchez, AM Galan, ... Transfusion 45 (6), 911-919, 2005 | 125 | 2005 |
Effect of P-selectin on phosphatidylserine exposure and surface-dependent thrombin generation on monocytes I Del Conde, F Nabi, R Tonda, P Thiagarajan, JA López, NS Kleiman Arteriosclerosis, thrombosis, and vascular biology 25 (5), 1065-1070, 2005 | 116 | 2005 |
precisionFDA Truth Challenge V2: Calling variants from short-and long-reads in difficult-to-map regions ND Olson, J Wagner, J McDaniel, SH Stephens, ST Westreich, ... bioRxiv, 2020 | 115 | 2020 |
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48) D Genis, S Ortega-Cubero, H San Nicolás, J Corral, J Gardenyes, ... Neurology 91 (21), e1988-e1998, 2018 | 100 | 2018 |
Increased local procoagulant action: a mechanism contributing to the favorable hemostatic effect of recombinant FVIIa in PLT disorders AM Galán, R Tonda, M Pino, JC Reverter, A Ordinas, G Escolar Transfusion 43 (7), 885-892, 2003 | 66 | 2003 |
An in-depth characterization of the major psoriasis susceptibility locus identifies candidate susceptibility alleles within an HLA-C enhancer element TRC Clop A, Bertoni A, Spain SL, Simpson MA PLoS One 8 (8), 2013 | 60 | 2013 |
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer L Feliubadaló, R Tonda, M Gausachs, JR Trotta, E Castellanos, ... Scientific Reports 7, 2017 | 52 | 2017 |
Novel candidate genes and a wide spetrum of structural and point mutations responsible for inherited retinal dystrophies revealed by exome sequencing M Castro Miró, R Tonda, P Escudero Ferruz, R Andrés, A Mayor Lorenzo, ... PLoS One, 2016, vol. 11, num. 12, p. e0168966, 2016 | 52 | 2016 |
Biocompatibility of cellulosic and synthetic membranes assessed by leukocyte activation MR Hernández, AM Galán, A Cases, J Lopez-Pedret, A Pereira, R Tonda, ... American journal of nephrology 24 (2), 235-241, 2004 | 50 | 2004 |
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data L Matalonga, C Hernandez-Ferrer, D Piscia, R Schüle, M Synofzik, A Töpf, ... European Journal of Human Genetics, 1-9, 2021 | 42 | 2021 |
Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma. J Garcia-Reyero, NM Magunacelaya, SG de Villambrosia, S Loghavi, ... Haematologica, 2020 | 42 | 2020 |
Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies M de Castro-Miró, E Pomares, L Lorés-Motta, R Tonda, J Dopazo, ... PloS one 9 (2), e88410, 2014 | 41 | 2014 |
Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors E Pros, M Saigi, D Alameda, G Gomez-Mariano, B Martinez-Delgado, ... Annals of Oncology 31 (2), 274-282, 2020 | 35 | 2020 |
Evaluation of effects of rofecoxib on platelet function in an in vitro model of thrombosis with circulating human blood MR Hernandez, R Tonda, M Pino, M Serradell, G Arderiu, G Escolar European journal of clinical investigation 34 (4), 297-302, 2004 | 31 | 2004 |
Next generation sequencing gives an insight into the characteristics of highly selected breeds versus non-breed horses in the course of domestication J Metzger, R Tonda, S Beltran, L Águeda, M Gut, O Distl BMC genomics 15 (1), 1, 2014 | 30 | 2014 |
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development C Ayuso, MJ Cabañero Valera, CD Méndez Hernández, JD Aroca Aguilar, ... Nature Publishing Group, 2017 | 28 | 2017 |
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development JJ Ferre-Fernández, JD Aroca-Aguilar, C Medina-Trillo, ... Scientific Reports 7, 46175, 2017 | 28 | 2017 |
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases S Laurie, D Piscia, L Matalonga, A Corvó, M Fernández‐Callejo, ... Human mutation 43 (6), 717-733, 2022 | 27 | 2022 |
Hemostatic effect of activated recombinant factor VII (rFVIIa) in liver disease: studies in an in vitro model R Tonda, AM Galán, M Pino, I Cirera, J Bosch, MR Hernández, A Ordinas, ... Journal of hepatology 39 (6), 954-959, 2003 | 27 | 2003 |