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Publications

  • Sarquella-Brugada G, Fernandez-Falgueras A, César-Díaz S, Arbelo E, Coll M, Perez-Serra A, Puigmulé M, Iglesias A, Alcalde M, Vallverdú-Prats M, Fiol JV, Ferrer-Costa C, Del Olmo B, Picó F, Lopez L, García-Alvarez A, Jordà P, Tiron de Llano C, Toro R, Grassi S, Oliva A, Brugada-Terradellas J, Brugada R and Campuzano O.

    Clinical impact of rare variants associated with inherited channelopathies: a 5-year update

    HUMAN GENETICS . 141(10): 1579-1589. Number of citations: 17

    [doi:10.1007/s00439-021-02370-4]

  • Norrish G, Topriceanu C, Qu C, Field E, Walsh H, Ziólkowska L, Olivotto I, Passantino S, Favilli S, Anastasakis A, Vlagkouli V, Weintraub R, King I, Biagini E, Ragni L, Prendiville T, Duignan S, McLeod K, Ilina M, Fernández A, Bökenkamp R, Baban A, Drago F, Kubuš P, Daubeney PEF, Chivers S, Sarquella-Brugada G, César-Díaz S, Marrone C, Medrano C, Alvarez Garcia-Roves R, Uzun O, Gran F, Castro FJ, Gimeno JR, Barriales-Villa R, Rueda F, Adwani S, Searle J, Bharucha T, Siles A, Usano A, Rasmussen TB, Jones CB, Kubo T, Mogensen J, Reinhardt Z, Cervi E, Elliott PM, Omar RZ and Kaski JP.

    The role of the electrocardiographic phenotype in risk stratification for sudden cardiac death in childhood hypertrophic cardiomyopathy

    EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY . 29(4): 645-653. Number of citations: 22

    [doi:10.1093/eurjpc/zwab046]

  • Paredes-Fuentes AJ, César-Díaz S, Montero-Sanchez R, Latre C, Genovés-Escarré J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R.

    Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

    BIOMEDICINE & PHARMACOTHERAPY . 143: 112143-112143. Number of citations: 8

    [doi:10.1016/j.biopha.2021.112143]

  • Sarquella-Brugada G, Algarrada L, Zambrano MD, Fernández-Falgueres A, Sailer S, César-Díaz S, Sebastiani G, Martí-Almor J, Aurensanz E, Cruzalegui JC, Merchan EF, Coll M, Pérez-Serra A, Del Olmo B, Fiol JV, Iglesias A, Ferrer-Costa C, Puigmulé M, Lopez L, Pico F, Arbelo E, Jordà P, Brugada-Terradellas J, Brugada R and Campuzano O.

    Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

    Frontiers in pediatrics . 9: 704580-704580. Number of citations: 5

    [doi:10.3389/fped.2021.704580]

  • Diz OM, Toro R, César-Díaz S, Gomez O, Sarquella-Brugada G and Campuzano O.

    Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

    Journal of Personalized Medicine . 11(6): 562. Number of citations: 6

    [doi:10.3390/jpm11060562]

  • Vallverdú-Prats M, Alcalde M, Sarquella-Brugada G, César-Díaz S, Arbelo E, Fernandez-Falgueras A, Coll M, Pérez-Serra A, Puigmulé M, Iglesias A, Fiol JV, Ferrer-Costa C, Olmo BD, Picó F, Lopez L, Jordà P, García-Álvarez A, Llano CT, Toro R, Grassi S, Oliva A, Brugada-Terradellas J, Brugada R and Campuzano O.

    Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

    Journal of Personalized Medicine . 11(3): 162. Number of citations: 19

    [doi:10.3390/jpm11030162]

  • Sarquella-Brugada G, Fernandez-Falgueras A, César-Díaz S, Arbelo E, Jordà P, García-Álvarez A, Cruzalegui JC, Merchan EF, Fiol JV, Brugada-Terradellas J, Brugada R and Campuzano O.

    Pediatric Malignant Arrhythmias Caused by Rare Homozygous Genetic Variants in TRDN: A Comprehensive Interpretation

    Frontiers in pediatrics . 8: 601708-601708. Number of citations: 4

    [doi:10.3389/fped.2020.601708]

  • Jordà P, Toro R, Diez C, Salazar-Mendiguchía J, Fernandez-Falgueras A, Perez-Serra A, Coll M, Puigmulé M, Arbelo E, García-Álvarez A, Sarquella-Brugada G, César-Díaz S, Tiron C, Iglesias A, Brugada J, Brugada R and Campuzano O.

    Malignant Arrhythmogenic Role Associated with RBM20: A Comprehensive Interpretation Focused on a Personalized Approach

    Journal of Personalized Medicine . 11(2): 130. Number of citations: 5

    [doi:10.3390/jpm11020130]

  • Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.

    The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

    PEDIATRIC NEUROLOGY . 115: 50-65. Number of citations: 12

    [doi:10.1016/j.pediatrneurol.2020.11.002]

  • García-Otero L, LÓpez M, GoncÉ A, Fortuny-Guasch C, Salazar L, Valenzuela-Alcaraz BI, Guirado L, César-Díaz S, Gratacós E and Fàtima Crispi Brillas.

    Cardiac Remodeling and Hypertension in HIV-Uninfected Infants Exposed in utero to Antiretroviral Therapy

    CLINICAL INFECTIOUS DISEASES . 73(4): 586-593. Number of citations: 10

    [doi:10.1093/cid/ciab030]