Publications by the researcher in collaboration with Maria Luisa Lozano Almela (5)

2024

  1. 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

  2. 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

2023

  1. 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. Implication of Hepsin from Primary Tumor in the Prognosis of Colorectal Cancer Patients

    Cancers, Vol. 14, Núm. 13