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Estefanía Martínez Barrios

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Publications

  • Martínez-Barrios E, Grassi S, Brión M, Toro R, César-Díaz S, Cruzalegui JC, Coll M, Alcalde M, Brugada R, Greco A, Ortega-Sánchez ML, Barberia E, Oliva A, Sarquella-Brugada G and Campuzano O.

    Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

    Frontiers in Medicine . 10: 1118585-1118585. Number of citations: 50

    [doi:10.3389/fmed.2023.1118585]

  • Oliva, A, Grassi, S, Pinchi, V, Cazzato, F, Coll, M, Alcalde, M, Vallverdu-Prats, M, Perez-Serra, A, Martínez-Barrios E, César-Díaz S, Iglesias, A, Cruzalegui JC, Hernandez, C, Fiol JV, Arbelo, E, Diez-Escute, N, Arena, V, Brugada-Terradellas J, Sarquella-Brugada G, Brugada, R and Campuzano, O.

    Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review

    Journal of Clinical Medicine . 11(15): . Number of citations: 15

    [doi:10.3390/jcm11154406]

  • Alvarez-Mora MI, Agusti I, Wijngaard R, Martínez-Barrios E, Barcos T, Borras A, Peralta S, Guimera M, Goday A, Manau D and Rodriguez-Revenga L.

    Evaluation of FMR4, FMR5 and FMR6 Expression Levels as Non-Invasive Biomarkers for the Diagnosis of Fragile X-Associated Primary Ovarian Insufficiency (FXPOI).

    Journal of Clinical Medicine . 11(8): . Number of citations: 6

    [doi:10.3390/jcm11082186]

  • Martínez-Barrios E, Arbelo E, César-Díaz S, Cruzalegui JC, Fiol JV, Díez-Escuté N, Hernández-Cera C, Brugada R, Brugada-Terradellas J, Campuzano O and Sarquella-Brugada G.

    Brugada Syndrome in Women: What Do We Know After 30 Years?

    Frontiers in Cardiovascular Medicine . 9: 874992-874992. Number of citations: 7

    [doi:10.3389/fcvm.2022.874992]

  • Martínez-Barrios E, Sarquella-Brugada G, Pérez-Serra A, Fernández-Falgueras A, César-Díaz S, Coll M, Puigmulé M, Iglesias A, Alcalde M, Vallverdú-Prats M, Ferrer-Costa C, Del Olmo B, Picó F, López L, Fiol JV, Cruzalegui JC, Hernández-Cera C, Arbelo E, Grassi S, Oliva A, Toro R, Brugada-Terradellas J, Brugada R and Campuzano O.

    Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes

    Journal of Personalized Medicine . 12(2): . Number of citations: 9

    [doi:10.3390/jpm12020241]

  • Martínez-Barrios E, César-Díaz S, Cruzalegui JC, Hernandez C, Arbelo E, Fiol JV, Brugada-Terradellas J, Brugada R, Campuzano O and Sarquella-Brugada G.

    Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population

    Biomedicines . 10(1): . Number of citations: 16

    [doi:10.3390/biomedicines10010106]

  • Martins da Silva V, Martínez-Barrios E, Tell-Martí G, Dabad M, Carrera C, Aguilera P, Daniel Antoni Brualla Palazón, Esteve-Codina A, Vicente-Villa MA, Puig S, Puig-Butillé JA and Malvehy J.

    Genetic Abnormalities in Large to Giant Congenital Nevi: Beyond NRAS Mutations.

    JOURNAL OF INVESTIGATIVE DERMATOLOGY . 139(4): 900-908. Number of citations: 83

    [doi:10.1016/j.jid.2018.07.045]

  • Schoof, N, Iles, MM, Bishop, DT, Newton-Bishop, JA, Barrett, JH and Martínez-Barrios E.

    Pathway-Based Analysis of a Melanoma Genome-Wide Association Study: Analysis of Genes Related to Tumour-Immunosuppression

    PLoS One . 6(12): . Number of citations: 17

    [doi:10.1371/journal.pone.0029451]

  • Amos, CI, Wang, LE, Lee, JE, Gershenwald, JE, Chen, WV, Fang, SY, Kosoy, R, Zhang, MF, Qureshi, AA, Vattathil, S, Schacherer, CW, Gardner, JM, Wang, YL, Bishop, DT, Barrett, JH, MacGregor, S, Hayward, NK, Martin, NG, Duffy, DL, Mann, GJ, Cust, A, Hopper, J, Brown, KM, Grimm, EA, Xu, YJ, Han, YH, Jing, KY, McHugh, C, Laurie, CC, Doheny, KF, Pugh, EW, Seldin, MF, Han, JL, Wei, QY and Martínez-Barrios E.

    Genome-wide association study identifies novel loci predisposing to cutaneous melanoma

    HUMAN MOLECULAR GENETICS . 20(24): 5012-5023. Number of citations: 171

    [doi:10.1093/hmg/ddr415]

  • Greco A, Donno V, Martínez-Barrios E, Campuzano O, Polyzos NP and Sarquella-Brugada G.

    Sex hormones and arrhythmia risk in women with long-QT syndrome.

    HEART RHYTHM . : .

    [doi:10.1016/j.hrthm.2026.02.040]