Publicaciones en las que colabora con Maria Eugenia De La Morena Barrio (8)

2024

  1. Analysis of AlphaFold and molecular dynamics structure predictions of mutations in serpins

    PLoS ONE, Vol. 19, Núm. 7 JULY

  2. 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

  3. 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