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Publications

  • 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.

    [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): .

    [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.

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

  • Bergonti M, Ciconte G, Cruzalegui JC, Crotti L, Arbelo E, Casella M, Saenen J, Rossi A, Pannone L, Martínez-Barrios E, Compagnucci P, Russo V, Berne P, Van Leuven O, Boccellino A, Marcon L, Dagradi F, Landra F, Özkartal T, Comune A, Conti S, Ribatti V, Campuzano O, Brugada P, de Asmundis C, Brugada J, Pappone C, Tondo C, Schwartz PJ, Auricchio A, Sarquella-Brugada G and Conte G.

    Continuous Rhythm Monitoring With Implanted Loop Recorders in Children and Adolescents With Brugada Syndrome

    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY . 84(10): 921-933. Number of citations: 3

    [doi:10.1016/j.jacc.2024.04.070]

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

    A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations.

    BMJ OPEN SPORT & EXERCISE MEDICINE . 10(3): .

    [doi:10.1136/bmjsem-2023-001852]

  • Fogaça-da-Mata M, Martínez-Barrios E, Jiménez-Montañés L, Cruzalegui JC, Chipa-Ccasani F, Greco A, César-Díaz S, Nuria Díez Escuté, Patricia Cerralbo Martín, Zschaeck-Luzardo I, Clavero Adell M, Ayerza-Casas A, Palanca-Arias D, López M, Campuzano O, Brugada-Terradellas J and Sarquella-Brugada G.

    Brugada Syndrome and Pulmonary Atresia with Intact Interventricular Septum: Fortuitous Finding or New Genetic Connection?

    GENES . 15(5): .

    [doi:10.3390/genes15050638]

  • Nuria Díez Escuté, Arbelo E, Martínez-Barrios E, Patricia Cerralbo Martín, César-Díaz S, Cruzalegui JC, Chipa F, Fiol JV, Zschaeck-Luzardo I, Hernández-Cera C, Campuzano O and Sarquella-Brugada G.

    Sex differences in long QT syndrome.

    frontiers in cardiovascular medicine . 10: 1164028-1164028. Number of citations: 5

    [doi:10.3389/fcvm.2023.1164028]

  • César-Díaz S, Coll, M, Fiol JV, Fernandez-Falgueras, A, Cruzalegui JC, Iglesias, A, Moll I, Perez-Serra, A, Martínez-Barrios E, Ferrer-Costa, C, del Olmo, B, Puigmulè, M, Alcalde, M, Lopez, L, Pico, F, Berrueco R, Brugada-Terradellas J, Zschaeck-Luzardo I, Natera-de Benito D, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Brugada, R, Sarquella-Brugada G and Campuzano, O.

    LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation

    Frontiers in Genetics . 14: 1135438-1135438. Number of citations: 4

    [doi:10.3389/fgene.2023.1135438]

  • César-Díaz S, Campuzano O, Cruzalegui JC, Fiol JV, Moll I, Martínez-Barrios E, Zschaeck-Luzardo I, Natera-de Benito D, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Berrueco R, Bautista-Rodriguez C, Dabaj I, Gómez García-de-la-Banda M, Quijano-Roy S, Brugada-Terradellas J, Nascimento-Osorio A and Sarquella-Brugada G.

    Characterization of cardiac involvement in children with LMNA-related muscular dystrophy

    Frontiers in Cell and Developmental Biology . 11: 1142937-1142937. Number of citations: 3

    [doi:10.3389/fcell.2023.1142937]

  • Martínez-Barrios E, Sarquella-Brugada G, Perez-Serra A, Fernandez-Falgueras A, César-Díaz S, Alcalde M, Coll M, Puigmulé M, Iglesias A, Ferrer-Costa C, Del Olmo B, Picó F, Lopez L, Fiol JV, Cruzalegui JC, Hernández-Cera C, Arbelo E, Díez-Escuté N, Cerralbo P, Grassi S, Oliva A, Toro R, Brugada-Terradellas J, Brugada R and Campuzano O.

    Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort

    INTERNATIONAL JOURNAL OF LEGAL MEDICINE . 137(2): 345-351. Number of citations: 13

    [doi:10.1007/s00414-023-02951-0]