Publicaciones en las que colabora con Javier Corral de la Calle (4)

2023

  1. Improvement of large copy number variant detection by whole genome nanopore sequencing

    Journal of Advanced Research, Vol. 50, pp. 145-158

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

  2. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

    Journal of Molecular Diagnostics, Vol. 24, Núm. 5, pp. 462-475

2016

  1. Uniparental disomy causes deficiencies of vitamin K-dependent proteins

    Journal of Thrombosis and Haemostasis, Vol. 14, Núm. 12, pp. 2410-2418