Publicaciones (261) Publicaciones de Javier Corral De La Calle

2024

  1. Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

    Mobile DNA, Vol. 15, Núm. 1

  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. An Unusual Case of Combined Thrombosis and Amegakaryocytopenia Resembling Thrombosis With Thrombocytopenia Syndrome Following COVID-19 Infection in an Unvaccinated Patient

    CUREUS JOURNAL OF MEDICAL SCIENCE, Vol. 15, Núm. 2

  2. Antithrombin Deficiency Is Associated with Prothrombotic Plasma Fibrin Clot Phenotype

    Thrombosis and haemostasis, Vol. 123, Núm. 9, pp. 880-891

  3. Attack of the Clones: A Patient With Untreated Aplastic Anemia Presenting With Classical Paroxysmal Nocturnal Hemoglobinuria

    CUREUS JOURNAL OF MEDICAL SCIENCE, Vol. 15, Núm. 1

  4. Congenital factor XI deficiency and risk of heart failure in humans

    Journal of Thrombosis and Haemostasis

  5. Detection and annotation of transposable element insertions and deletions on the human genome using nanopore sequencing

    iScience, Vol. 26, Núm. 11

  6. Factor XI in Carriers of Antiphospholipid Antibodies: Elevated Levels Associated with Symptomatic Thrombotic Cases, While Low Levels Linked to Asymptomatic Cases

    International Journal of Molecular Sciences, Vol. 24, Núm. 22

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

    Haematologica

  8. 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

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

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

  10. Scalable production of tissue-like vascularized liver organoids from human PSCs

    Experimental and Molecular Medicine, Vol. 55, Núm. 9, pp. 2005-2024

  11. Should we consider gene therapy in severe inherited thrombophilia? Communication from the ISTH SSC Subcommittee on Physiological Anticoagulants and Thrombophilia

    Journal of Thrombosis and Haemostasis

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

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

2022

  1. Contact pathway in surgical and transcatheter aortic valve replacement

    Frontiers in Cardiovascular Medicine, Vol. 9

  2. Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies

    Glycobiology, Vol. 32, Núm. 2, pp. 84-100

  3. Full-length antithrombin frameshift variant with aberrant C-terminus causes endoplasmic reticulum retention with a dominant-negative effect

    JCI Insight, Vol. 7, Núm. 19

  4. Gene editing of human iPSCs rescues thrombophilia in hereditary antithrombin deficiency in mice

    Science Translational Medicine, Vol. 14, Núm. 673

  5. Improvement in Primary Autoimmune Myelofibrosis Following a Short Course of Steroids and Intravenous Immunoglobulins

    CUREUS JOURNAL OF MEDICAL SCIENCE, Vol. 14, Núm. 9