Publicacions en què col·labora amb José María Bastida Bermejo (21)

2023

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

    Platelets, Vol. 34, Núm. 1

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

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

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

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

  4. Platelet transcriptome analysis in patients with germline RUNX1 mutations

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

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

2021

  1. ABCG5 and ABCG8 gene variations associated with sitosterolemia and platelet dysfunction

    Platelets, Vol. 32, Núm. 4, pp. 573-577

  2. A novel genetic variant in PTGS1 affects N-glycosylation of cyclooxygenase-1 causing a dominant-negative effect on platelet function and bleeding diathesis

    American Journal of Hematology

  3. Biological significance of monoallelic and biallelic BIRC3 loss in del(11q) chronic lymphocytic leukemia progression

    Blood Cancer Journal, Vol. 11, Núm. 7

  4. Characterization of the platelet phenotype caused by a germline RUNX1 Variant in a CRISPR/Cas9-generated murine model

    Thrombosis and Haemostasis, Vol. 121, Núm. 9, pp. 1193-1205

  5. Expanding the genetic spectrum of TUBB1-related thrombocytopenia

    Blood Advances, Vol. 5, Núm. 24, pp. 5453-5467

2020

  1. CRISPR/Cas9-generated models uncover therapeutic vulnerabilities of del(11q) CLL cells to dual BCR and PARP inhibition

    Leukemia, Vol. 34, Núm. 6, pp. 1599-1612

  2. Transcriptomic analysis of patients with immune thrombocytopenia treated with eltrombopag

    Platelets, Vol. 31, Núm. 8, pp. 993-1000

2019

  1. Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

    Annals of Medicine, Vol. 51, Núm. 2, pp. 141-148

  2. Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

    Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 695-707

  3. Sitosterolemia: Diagnosis, metabolic and hematological abnormalities, cardiovascular disease and management

    Current Medicinal Chemistry, Vol. 26, Núm. 37, pp. 6766-6775

2018

  1. Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders

    Haematologica, Vol. 103, Núm. 1, pp. 148-162

2017

  1. Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes

    Thrombosis and Haemostasis, Vol. 117, Núm. 1, pp. 66-74

  2. Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia

    Journal of Thrombosis and Haemostasis, Vol. 15, Núm. 9, pp. 1859-1866

  3. Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

    Platelets, Vol. 28, Núm. 4, pp. 417-420