Publicaciones en las que colabora con María Luisa Lozano Almela (16)

2024

  1. 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

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. Src-related thrombocytopenia: a fine line between a megakaryocyte dysfunction and an immune-mediated disease

    Blood Advances, Vol. 6, Núm. 17, pp. 5244-5255

2021

  1. 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

  2. Expanding the genetic spectrum of TUBB1-related thrombocytopenia

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

  3. Inherited platelet disorders: An updated overview

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

  4. Role of thrombopoietin receptor agonists in inherited thrombocytopenia

    International Journal of Molecular Sciences, Vol. 22, Núm. 9

2019

  1. GENYOi005-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) carrying a p.Thr196Ala variant

    Stem Cell Research, Vol. 41

  2. Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

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

  3. RASGRP2 gene variations associated with platelet dysfunction and bleeding

    Platelets, Vol. 30, Núm. 4, pp. 535-539

2018

  1. Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis

    Platelets, Vol. 29, Núm. 2, pp. 192-195

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

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

2017

  1. 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

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

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

2016

  1. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders

    Haemophilia, Vol. 22, Núm. 4, pp. 590-597

  2. Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction

    Blood, Vol. 128, Núm. 9, pp. 1282-1289