Publicaciones en las que colabora con Maria Eugenia De La Morena Barrio (16)

2024

  1. Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins

    PLoS ONE, Vol. 19, Núm. 7 JULY

  2. 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

  3. The whole is greater than the sum of its parts: Long-read sequencing for solving clinical problems in haematology

    Journal of Cellular and Molecular Medicine, Vol. 28, Núm. 3

  4. 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. Congenital factor XI deficiency and risk of heart failure in humans

    Journal of Thrombosis and Haemostasis

  2. Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases

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

  3. Impact of genetic structural variants in factor XI deficiency: identification, accurate characterization, and inferred mechanism by long-read sequencing

    Journal of Thrombosis and Haemostasis, Vol. 21, Núm. 7, pp. 1779-1788

2022

  1. Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect

    JCI Insight, Vol. 7, Núm. 19

  2. Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays

    Blood, Vol. 140, Núm. 2, pp. 140-151

2021

  1. A pilot study on the impact of congenital thrombophilia in COVID-19

    European Journal of Clinical Investigation

  2. Expanding the genetic spectrum of TUBB1-related thrombocytopenia

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

  3. Prognostic value of thrombin generation parameters in hospitalized COVID-19 patients

    Scientific Reports, Vol. 11, Núm. 1

2019

  1. Multirefractory primary immune thrombocytopenia; targeting the decreased sialic acid content

    Platelets, Vol. 30, Núm. 6, pp. 743-751

2017

  1. Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy

    Scientific Reports, Vol. 7

2014

  1. Proteomic analysis of platelet N-glycoproteins in PMM2-CDG patients

    Thrombosis Research, Vol. 133, Núm. 3, pp. 412-417

2013

  1. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1