Publications (76) José María Bastida Bermejo publications

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2025

  1. Diagnosis of Inherited Platelet Disorders: Clinical Evaluation and Functional and Molecular Assays

    Biomolecules, Vol. 15, Núm. 6

  2. Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy)

    HemaSphere, Vol. 9, Núm. 1

  3. Examining the Effects of the RUNX1 p.Leu43Ser Variant on FPD/AML Phenotypes Using a CRISPR/Cas9-Generated Knock-In Murine Model

    Biomolecules, Vol. 15, Núm. 5

  4. Illustrated capsules from the Advanced Course in Platelet Research

    Research and Practice in Thrombosis and Haemostasis, Vol. 9, Núm. 2

  5. Patient-Centred Management of Well-Controlled Haemophilia: Obtaining Opinions and Definitions Through a Delphi Consensus

    Journal of Clinical Medicine, Vol. 14, Núm. 10

  6. Tonic signaling of the B-cell antigen-specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

    Molecular Oncology

2024

  1. Avatrombopag in immune thrombocytopenia: A real-world study of the Spanish ITP Group (GEPTI)

    American Journal of Hematology, Vol. 99, Núm. 12, pp. 2328-2339

  2. Avatrombopag plus fostamatinib combination as treatment in patients with multirefractory immune thrombocytopenia

    British Journal of Haematology, Vol. 205, Núm. 4, pp. 1551-1555

  3. Platelet C3G: a key player in vesicle exocytosis, spreading and clot retraction

    Cellular and Molecular Life Sciences, Vol. 81, Núm. 1

  4. Targeted long-read sequencing identifies and characterizes structural variants in cases of inherited platelet disorders

    Journal of Thrombosis and Haemostasis, Vol. 22, Núm. 3, pp. 851-859

  5. Thrombotic risk and features of patients with inferior vena cava agenesis: a multicentre, retrospective, observational study

    The Lancet Haematology, Vol. 11, Núm. 8, pp. e606-e616

2023

  1. Corrigendum to GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis [J Thromb Haemost. 2021 Oct;19(10):2612-2617] (Journal of Thrombosis and Haemostasis (2021) 19(10) (2612–2617), (S1538783622021559), (10.1111/jth.15459))

    Journal of Thrombosis and Haemostasis

  2. GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

    Platelets, Vol. 34, Núm. 1

  3. Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation

    International journal of molecular sciences, Vol. 24, Núm. 6

  4. Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

  5. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

    Blood, Vol. 141, Núm. 4, pp. 406-421

  6. Platelet transcriptome analysis in patients with germline RUNX1 mutations

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 5, pp. 1352-1365

  7. Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 4, pp. 1010-1019

2022

  1. 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

    Cells, Vol. 11, Núm. 20

  2. A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling

    Journal of Thrombosis and Haemostasis, Vol. 20, Núm. 5, pp. 1248-1255