| 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 |
| 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 | 42 | 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 | 33 | 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 | 26 | 2017 |
| 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 | 17 | 2020 |
| 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 | 16 | 2019 |
| 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 | 15 | 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 Borras, A Rodriguez-Trillo, ... PLoS One 13 (6), e0197876, 2018 | 12 | 2018 |
| Molecular dissection of structural variations involved in antithrombin deficiency B de la Morena-Barrio, C Orlando, A Sanchis-Juan, JL García, J Padilla, ... The Journal of Molecular Diagnostics 24 (5), 462-475, 2022 | 7 | 2022 |
| 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 |
| Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods B De la Morena‐Barrio, N Borràs, A Rodríguez‐Alén, ... British Journal of Haematology 186 (4), e82-e86, 2019 | 6 | 2019 |
| Unraveling the influence of common von willebrand factor variants on von Willebrand Disease phenotype: an exploratory study on the molecular and clinical profile of von … N Borràs, I Garcia-Martínez, J Batlle, A Pérez-Rodríguez, R Parra, ... Thrombosis and Haemostasis 120 (03), 437-448, 2020 | 3 | 2020 |
| Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing‐based technology N Borràs, D Castillo‐González, N Comes, L Martin‐Fernandez, ... Haemophilia 28 (1), 125-137, 2022 | 2 | 2022 |
| Improving cord blood typing with next-generation sequencing: impact of allele-level HLA and NIMA determination on their selection for transplantation E Enrich, F Vidal, I Corrales, E Campos, N Borràs, L Martorell, M Sánchez, ... Bone Marrow Transplantation 55 (8), 1623-1631, 2020 | 2 | 2020 |
| 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 | 1 | 2021 |
| Diagnostic challenges in von Willebrand disease. Report of two cases with emphasis on multimeric and molecular analysis AB Moreno-Castaño, A Ramos, M Pino, R Parra, C Altisent, F Vidal, ... Platelets 32 (5), 697-700, 2021 | 1 | 2021 |
| Gaining Insights into Inherited Bleeding Disorders of Complex Etiology in Pediatric Patients: Whole-Exome Sequencing as First-Line Investigation Tool P Bandini, N Borràs, R Berrueco, S Gassiot, L Martin-Fernandez, ... Thrombosis and Haemostasis, 2023 | | 2023 |
| First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene P Bandini, N Borràs, EF Mellid, L Martin-Fernandez, PM Valentín, ... British journal of haematology 203 (4), e102-e107, 2023 | | 2023 |
| PB0212 Patient with Spontaneous and Severe Bleeding Episodes Diagnosed of Vascular Ehlers-Danlos Syndrome with a De Novo Pathogenic Variant S Marcellini-Antonio, I Corrales-Insa, P Bandini, N Borrás, ... Research and Practice in Thrombosis and Haemostasis 7, 101280, 2023 | | 2023 |
