| Molecular and clinical profile of von Willebrand disease in Spain (PCM–EVW–ES): Proposal for a new diagnostic paradigm J Batlle, A Pérez-Rodríguez, I Corrales, MF López-Fernández, ... Thrombosis and haemostasis 115 (01), 40-50, 2016 | 69 | 2016 |
| Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene I Corrales, L Ramírez, C Altisent, R Parra, F Vidal Thrombosis and haemostasis 101 (03), 570-576, 2009 | 68 | 2009 |
| High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods I Corrales, S Catarino, J Ayats, D Arteta, C Altisent, R Parra, F Vidal Haematologica 97 (7), 1003, 2012 | 48 | 2012 |
| Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients N Borràs, J Batlle, A Pérez-Rodríguez, MF López-Fernández, ... Haematologica 102 (12), 2005, 2017 | 45 | 2017 |
| Genotype–phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS T Fidalgo, R Salvado, I Corrales, SC Pinto, N Borràs, A Oliveira, ... Thrombosis and haemostasis 116 (07), 17-31, 2016 | 35 | 2016 |
| Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next‐generation sequencing T Fidalgo, P Martinho, CS Pinto, AC Oliveira, R Salvado, N Borràs, ... Research and practice in thrombosis and haemostasis 1 (1), 69-80, 2017 | 28 | 2017 |
| The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients’ platelets and leukocytes I Corrales, L Ramirez, C Altisent, R Parra, F Vidal Journal of Thrombosis and Haemostasis 9 (4), 679-688, 2011 | 28 | 2011 |
| Genetic background of von Willebrand disease: history, current state, and future perspectives J Zolkova, J Sokol, T Simurda, L Vadelova, Z Snahnicanova, D Loderer, ... Seminars in thrombosis and hemostasis 46 (04), 484-500, 2020 | 26 | 2020 |
| NR4A3: a key nuclear receptor in vascular biology, cardiovascular remodeling, and beyond J Martínez-González, L Cañes, J Alonso, C Ballester-Servera, ... International journal of molecular sciences 22 (21), 11371, 2021 | 21 | 2021 |
| Update on molecular testing in von Willebrand disease J Batlle, A Pérez-Rodríguez, I Corrales, N Borràs, JC Pinto, ... Seminars in Thrombosis and Hemostasis 45 (07), 708-719, 2019 | 19 | 2019 |
| Common genetic variants in ABO and CLEC4M modulate the pharmacokinetics of recombinant FVIII in severe hemophilia A patients I Garcia-Martínez, N Borràs, M Martorell, R Parra, C Altisent, L Ramírez, ... Thrombosis and Haemostasis 120 (10), 1395-1406, 2020 | 18 | 2020 |
| The unravelling of the genetic architecture of plasminogen deficiency and its relation to thrombotic disease L Martin-Fernandez, P Marco, I Corrales, R Pérez, L Ramírez, S López, ... Scientific reports 6 (1), 39255, 2016 | 18 | 2016 |
| Molecular characterization of ten F8 splicing mutations in RNA isolated from patient's leucocytes: assessment of in silico prediction tools accuracy L Martorell, I Corrales, L Ramirez, R Parra, A Raya, J Barquinero, F Vidal Haemophilia 21 (2), 249-257, 2015 | 17 | 2015 |
| Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA N Borràs, G Orriols, J Batlle, A Pérez-Rodríguez, T Fidalgo, P Martinho, ... haematologica 104 (3), 587, 2019 | 14 | 2019 |
| Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure J Del Rey, F Vidal, L Ramírez, N Borràs, I Corrales, I Garcia, ... PLoS One 13 (10), e0205692, 2018 | 14 | 2018 |
| Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project A Pérez-Rodríguez, J Batlle, I Corrales, N Borràs, Á Rodríguez-Trillo, ... PloS one 13 (6), e0197876, 2018 | 12 | 2018 |
| Next generation sequencing to dissect the genetic architecture of KNG1 and F11 loci using factor XI levels as an intermediate phenotype of thrombosis L Martin-Fernandez, G Gavidia-Bovadilla, I Corrales, H Brunel, L Ramírez, ... Plos one 12 (4), e0176301, 2017 | 8 | 2017 |
| Advanced cell‐based modeling of the royal disease: characterization of the mutated F9mRNA L Martorell, E Luce, JL Vazquez, Y Richaud‐Patin, S Jimenez‐Delgado, ... Journal of Thrombosis and Haemostasis 15 (11), 2188-2197, 2017 | 7 | 2017 |
| Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations I Corrales, L Ramírez, J Ayats, C Altisent, R Parra, F Vidal haematologica 95 (11), 1982, 2010 | 6 | 2010 |
| Type 2N VWD: Conclusions from the Spanish PCM‐EVW‐ES project A Pérez‐Rodríguez, J Batlle, JC Pinto, I Corrales, N Borràs, ... Haemophilia 27 (6), 1007-1021, 2021 | 4 | 2021 |
