Publications in collaboration with researchers from Universitat Autònoma de Barcelona (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

  2. Molecular Dissection of Structural Variations Involved in Antithrombin Deficiency

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

2019

  1. Identification of the first large intronic deletion responsible of type I antithrombin deficiency not detected by routine molecular diagnostic methods

    British Journal of Haematology

2003

  1. Multicolor flourescence in situ hybridization studies in multiple myeloma and monoclonal gammopathy of undetermined significance

    Hematology Journal, Vol. 4, Núm. 1, pp. 67-70