Publications in collaboration with researchers from Complexo Hospitalario Universitario da Coruña (4)

2022

  1. Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

    Thrombosis and Haemostasis, Vol. 122, Núm. 8, pp. 1369-1378

2021

  1. Expanding the genetic spectrum of TUBB1-related thrombocytopenia

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

2017

  1. Defects of splicing in antithrombin deficiency

    Research and Practice in Thrombosis and Haemostasis, Vol. 1, Núm. 2, pp. 216-222

2012

  1. Regulatory regions of SERPINC1 gene: Identification of the first mutation associated with antithrombin deficiency

    Thrombosis and Haemostasis, Vol. 107, Núm. 3, pp. 430-437