| 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 |
| 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 |
| 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 | 19 | 2021 |
| 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 |
| Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis A Marín-Quílez, CA Di Buduo, L Díaz-Ajenjo, V Abbonante, E Vuelta, ... Blood 141 (4), 406-421, 2023 | 9 | 2023 |
| 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 |
| GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction A Marín-Quílez, CA Di Buduo, R Benito, A Balduini, J Rivera, JM Bastida Platelets 34 (1), 2176699, 2023 | 4 | 2023 |
| 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 |
| 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 |
| Effect of sarpogrelate treatment on 5-HT modulation of vascular sympathetic innervation and platelet activity in diabetic rats JF Fernández-González, JÁ García-Pedraza, A Marín-Quílez, JM Bastida, ... Biomedicine & Pharmacotherapy 153, 113276, 2022 | 3 | 2022 |
| Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders A Zamora-Cánovas, B de la Morena-Barrio, A Marín-Quilez, C Sierra-Aisa, ... Journal of Thrombosis and Haemostasis 22 (3), 851-859, 2024 | 2 | 2024 |
| Inherited thrombocytopenia caused by variants in crucial genes for glycosylation A Marín-Quílez, L Díaz-Ajenjo, CA Di Buduo, A Zamora-Cánovas, ... International Journal of Molecular Sciences 24 (6), 5109, 2023 | 2 | 2023 |
| 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 |
| Inherited Thrombocytopenias Predisposing to Hematologic Neoplasms. Experience of the Spanish Group for Inherited Platelet Disorders (GEAPC) JM Bastida, A Marín-Quílez, A Zamora, MR Benito Sanchez, ... Blood 142 (Supplement 1), 1357-1357, 2023 | | 2023 |
| PB0525 Identification of an Aberrant Cell Population in a Knock-in Murine Model with RUNX1 Variant Generated by CRISPR/Cas9 A Marin-Quilez, I García-Tuñón, J Ordoñez, M Del Rey, D Sanz, ... Research and Practice in Thrombosis and Haemostasis 7, 100721, 2023 | | 2023 |
| OC 65.3 Longread Nanopore Sequencing Reveal Novel Structural Variants in ITGB3, HPS5 and HPS3, Allowing Genetic Diagnosis of Glanzmann’s Thrombasthenia and Hermansky-Pudlak … A Marin-Quilez, A Zamora-Cánovas, B de la morena-Barrio, CS Aisa, ... Research and Practice in Thrombosis and Haemostasis 7, 100540, 2023 | | 2023 |
| Expanding the genetic spectrum of TUBB1-related thrombocytopenia (vol 5, pg 5453, 2021) V Palma-Barqueros, L Bury, S Kunishima, A Marin-Quilez BLOOD ADVANCES 7 (6), 877-877, 2023 | | 2023 |
| Identification By Longread Nanopore Sequencing of a Complex Structural Variant in ITGB3 with a Founder Effect Causing Glanzmann's Thrombasthenia in Two Unrelated Patients ML Lozano, A Zamora-Cánovas, D La Morena-Barrio, C Sierra, C Male, ... Blood 140 (Supplement 1), 2695-2696, 2022 | | 2022 |
| Characterization of novel genes and variants involved in Congenital Platelet Disorders: from the genomic data to the functional studies A Marín Quílez | | 2022 |
