Publicaciones en las que colabora con Javier Corral De La Calle (7)

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. Functional, biochemical, molecular and clinical characterization of antithrombin c.1157T>C (p.Ile386Thr), a recurrent Polish variant with a founder effect

    Haematologica

  2. 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

  3. Usefulness and Limitations of Multiple Ligation-Dependent Probe Amplification in Antithrombin Deficiency

    International Journal of Molecular Sciences, Vol. 24, Núm. 5

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. Molecular and clinical characterization of transient antithrombin deficiency: A new concept in congenital thrombophilia

    American Journal of Hematology, Vol. 97, Núm. 2, pp. 216-225