Persones / Equip Humà

Estefanía Martínez Barrios

Buscador de publicacions

Publicacions

  • Greco A, Martínez-Barrios E, Campuzano O, Cruzalegui JC, Chipa-Ccasani F, Merchan-Pinto EF, Ferrer Vidal-Barraquer E, Brugada J, Lujan AL and Sarquella-Brugada G.

    Multidisciplinary Management Enables Safe Return to Sports in a Pediatric Sudden Cardiac Death Survivor.

    JACC: Case Reports . 31(12): 106935-106935.

    [doi:10.1016/j.jaccas.2026.106935]

  • 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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): . Nº de cites: 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. Nº de cites: 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): . Nº de cites: 5

    [doi:10.1161/CIRCGEN.124.004584]