Publicaciones en las que colabora con ANA MARÍN QUÍLEZ (9)

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 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. 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. 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

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