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Estefanía Martínez Barrios

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Publications

  • Greco A, César-Díaz S, Martínez-Barrios E, Cruzalegui JC, Chipa F, Carretero JM, Merchán F, Nuria Díez Escuté, Patricia Cerralbo Martín, Luján AL, Zschaeck-Luzardo I, Díez-López C, de Frutos F, Arbelo E, García-Álvarez A, Toro R, Maria Estella Pie Raventos, Campuzano Ó and Sarquella-Brugada G.

    Clinical usefulness of genetic diagnosis in early-onset cardiomyopathies.

    Revista espanola de cardiologia (English ed.) . : .

    [doi:10.1016/j.rec.2026.01.004]

  • Martínez-Barrios E, Cruzalegui JC, Hidalgo-Sanuy M, Greco A, César-Díaz S, Chipa F, Nuria Díez Escuté, Patricia Cerralbo Martín, Zschaeck-Luzardo I, Merchán F, Balsells S, Brugada-Terradellas J, Campuzano O and Sarquella-Brugada G.

    Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 27(2): .

    [doi:10.3390/ijms27020880]

  • Campuzano O, Tirón C, Martínez-Barrios E, Greco A, Cruzalegui JC, Chipa F, César-Díaz S, Merchan EF, Coll M, Fernández-Falgueras A, Brugada R, Ortega M, Molina N, Barberia E, Toro R, Oliva A, Grassi S and Sarquella-Brugada G.

    The Role of Molecular Autopsy in Concealed Cardiomyopathies

    Genes . 16(11): .

    [doi:10.3390/genes16111273]

  • Campuzano O, Grassi S, Martínez-Barrios E, Greco A, Arena V, Sarquella-Brugada G and Oliva A.

    Brugada syndrome in the forensic field: what do we know to date?

    Frontiers in Cardiovascular Medicine . 12: 1618762-1618762. Number of citations: 1

    [doi:10.3389/fcvm.2025.1618762]

  • Martínez-Barrios E, Greco A, César-Díaz S, Díez-López C, Cruzalegui JC, Nuria Díez Escuté, Patricia Cerralbo Martín, Chipa F, Zschaeck-Luzardo I, Grassi S, Oliva A, Balderrábano N, Toro R, Sarquella-Brugada G and Campuzano O.

    Appropriate time interval to update ambiguous genetic diagnosis in inherited arrhythmogenic syndromes

    iScience . 28(5): 112300-112300. Number of citations: 2

    [doi:10.1016/j.isci.2025.112300]

  • Greco A, Martínez-Barrios E, Cruzalegui JC, César-Díaz S, Chipa, F, Nuria Díez Escuté, Patricia Cerralbo Martín, Zschaeck-Luzardo I, Loredo, P, Sarquella-Brugada G and Campuzano, O.

    Brugada Syndrome and GPD1L: Definite Genotype-Phenotype Association?

    Cardiogenetics . 15(1): .

    [doi:10.3390/cardiogenetics15010009]

  • Martínez-Barrios E, Greco A, Cruzalegui JC, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Chipa F, Zschaeck-Luzardo I, Slanovic L, Mangas A, Toro R, Brugada-Terradellas J, Sarquella-Brugada G and Campuzano O.

    Interpreting the actionable clinical role of rare variants associated with short QT syndrome

    HUMAN GENETICS . 143(12): 1499-1508. Number of citations: 1

    [doi:10.1007/s00439-024-02713-x]

  • Martínez-Barrios E, Greco A, Cruzalegui JC, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Chipa F, Zschaeck-Luzardo I, Fogaça-da-Mata M, Díez-López C, Arbelo E, Grassi S, Oliva A, Toro R, Sarquella-Brugada G and Campuzano O.

    Actionable Variants of Unknown Significance in Inherited Arrhythmogenic Syndromes: A Further Step Forward in Genetic Diagnosis

    Biomedicines . 12(11): . Number of citations: 1

    [doi:10.3390/biomedicines12112553]

  • Martínez-Barrios E, Campuzano O, Greco A, Cruzalegui JC and Sarquella-Brugada G.

    Cardiac channelopathies in pediatrics: a genetic update

    EUROPEAN JOURNAL OF PEDIATRICS . 183(11): 4635-4640. Number of citations: 1

    [doi:10.1007/s00431-024-05757-3]

  • Ye D, Garmany R, Martínez-Barrios E, Gao X, Neves RAL, Tester DJ, Bains S, Zhou W, Giudicessi JR and Ackerman MJ.

    Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.

    Circulation-Genomic and Precision Medicine . 17(5): .

    [doi:10.1161/CIRCGEN.124.004584]