Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders JM Bastida, ML Lozano, R Benito, K Janusz, V Palma-Barqueros, ... haematologica 103 (1), 148, 2018 | 118 | 2018 |
Inherited platelet disorders: an updated overview V Palma-Barqueros, N Revilla, A Sánchez, A Zamora Cánovas, ... International journal of molecular sciences 22 (9), 4521, 2021 | 53 | 2021 |
Comprehensive comparison of neonate and adult human platelet transcriptomes E Caparros-Perez, R Teruel-Montoya, MJ López-Andreo, MC Llanos, ... PLoS One 12 (8), e0183042, 2017 | 53 | 2017 |
Molecular diagnosis of inherited coagulation and bleeding disorders JM Bastida, R Benito, ML Lozano, A Marín-Quilez, K Janusz, ... Seminars in thrombosis and hemostasis 45 (07), 695-707, 2019 | 38 | 2019 |
Significant hypo-responsiveness to GPVI and CLEC-2 agonists in pre-term and full-term neonatal platelets and following immune thrombocytopenia AT Hardy, V Palma-Barqueros, SK Watson, JD Malcor, JA Eble, ... Thrombosis and haemostasis 118 (06), 1009-1020, 2018 | 34 | 2018 |
Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis T Sevivas, JM Bastida, DS Paul, E Caparros, V Palma-Barqueros, ... Platelets 29 (2), 192-195, 2018 | 32 | 2018 |
Expanding the genetic spectrum of TUBB1-related thrombocytopenia V Palma-Barqueros, L Bury, S Kunishima, ML Lozano, A Rodríguez-Alen, ... Blood advances 5 (24), 5453-5467, 2021 | 20 | 2021 |
Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications RH Lee, R Piatt, A Dhenge, ML Lozano, V Palma-Barqueros, J Rivera, ... Science translational medicine 11 (522), eaay0203, 2019 | 20 | 2019 |
Developmental differences in platelet inhibition response to prostaglandin E1 V Palma-Barqueros, JM Torregrosa, E Caparrós-Pérez, N Mota-Pérez, ... Neonatology 117 (1), 15-23, 2020 | 14 | 2020 |
Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing JM Bastida, S Morais, V Palma-Barqueros, R Benito, N Bermejo, ... Annals of medicine 51 (2), 141-148, 2019 | 14 | 2019 |
RASGRP2 gene variations associated with platelet dysfunction and bleeding V Palma-Barqueros, J Ruiz-Pividal, N Bohdan, V Vicente, JM Bastida, ... Platelets 30 (4), 535-539, 2019 | 13 | 2019 |
PTGS1 gene variations associated with bleeding and platelet dysfunction V Palma-Barqueros, N Bohdan, N Revilla, V Vicente, JM Bastida, J Rivera Platelets 32 (5), 710-716, 2021 | 11 | 2021 |
Characterization of the platelet phenotype caused by a germline RUNX1 variant in a CRISPR/Cas9-generated murine model A Marín-Quílez, I García-Tuñón, C Fernández-Infante, L Hernández-Cano, ... Thrombosis and Haemostasis 121 (09), 1193-1205, 2021 | 7 | 2021 |
A novel GATA1 variant in the C-terminal zinc finger compared with the platelet phenotype of patients with a likely pathogenic variant in the N-terminal zinc finger JM Bastida, S Malvestiti, D Boeckelmann, V Palma-Barqueros, M Wolter, ... Cells 11 (20), 3223, 2022 | 6 | 2022 |
A novel genetic variant in PTGS1 affects N‐glycosylation of cyclooxygenase‐1 causing a dominant‐negative effect on platelet function and bleeding diathesis V Palma‐Barqueros, M Crescente, ME de la Morena, MV Chan, ... American Journal of Hematology 96 (3), E83-E88, 2021 | 4 | 2021 |
Trastornos plaquetarios congénitos: ayer y hoy J Rivera, V Palma-Barqueros, V Vicente, ML Lozano Haematología 22, 191-209, 2018 | 4 | 2018 |
Platelet transcriptome analysis in patients with germline RUNX1 mutations V Palma-Barqueros, JM Bastida, MJL Andreo, A Zámora-Cánovas, ... Journal of Thrombosis and Haemostasis 21 (5), 1352-1365, 2023 | 3 | 2023 |
Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease V Palma-Barqueros, N Revilla, C Zaninetti, AM Galera, ... Blood Advances 6 (17), 5244-5255, 2022 | 3 | 2022 |
A modern approach to the molecular diagnosis of inherited bleeding disorders JM Bastida, V Palma-Barqueros, ML Lozano J Mol Genet Med 12 (322), 1747-0862.1000322, 2018 | 3 | 2018 |
A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling A Marín‐Quílez, E Vuelta, L Díaz‐Ajenjo, C Fernández‐Infante, ... Journal of Thrombosis and Haemostasis 20 (5), 1248-1255, 2022 | 2 | 2022 |