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Publications

  • Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada-Terradellas J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT and Bezzina CR.

    Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

    Circulation . 142(4): 324-338. Number of citations: 84

    [doi:10.1161/CIRCULATIONAHA.120.045956]

  • Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, César-Díaz S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro-Aguirre M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada-Terradellas J, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P and European Genetic Cardiomyopathies Initiative Investigators.

    Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY . 76(2): 186-197. Number of citations: 53

    [doi:10.1016/j.jacc.2020.05.029]

  • Mates J, Mademont-Soler I, Fernandez-Falgueras A, Sarquella-Brugada G, César-Díaz S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Coll M, Fiol JV, Iglesias A, Perez-Serra A, Olmo BD, Alcalde M, Puigmulé M, Pico F, Lopez L, Ferrer C, Tiron C, Grassi S, Oliva A, Brugada-Terradellas J, Brugada R and Campuzano O.

    Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

    FORENSIC SCIENCE INTERNATIONAL-GENETICS . 47: 102281-102281. Number of citations: 29

    [doi:10.1016/j.fsigen.2020.102281]

  • Salazar-Mendiguchía J, Díez-López C, Claver E, César-Díaz S, Campuzano O, Sarquella-Brugada G and Monserrat L.

    Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy

    Gene . 746: 144658-144658. Number of citations: 2

    [doi:10.1016/j.gene.2020.144658]

  • Brugada-Terradellas J, Katritsis, DG, Arbelo, E, Arribas, F, Bax, JJ, Blomstrom-Lundqvist, C, Calkins, H, Corrado, D, Deftereos, SG, Diller, GP, Gomez-Doblas, JJ, Gorenek, B, Grace, A, Ho, SY, Kaski, JC, Karl-Heinz, K, Lambiase, PD, Sacher, F, Sarquella-Brugada G, Suwalski, P and Zaza, A.

    2019 ESC Guidelines on the Treatment of Patients With Supraventricular Tachycardia

    REVISTA ESPANOLA DE CARDIOLOGIA . 73(6): .

    [doi:10.1016/j.recesp.2019.12.029]

  • Campuzano O, Sarquella-Brugada G, Arbelo E, César-Díaz S, Jordà P, Pérez-Serra A, Toro R, Brugada-Terradellas J and Brugada R.

    Genetic Variants as Sudden-Death Risk Markers in Inherited Arrhythmogenic Syndromes: Personalized Genetic Interpretation

    Journal of Clinical Medicine . 9(6): . Number of citations: 6

    [doi:10.3390/jcm9061866]

  • Mazzanti A, Guz D, Trancuccio A, Pagan E, Kukavica D, Chargeishvili T, Olivetti N, Biernacka EK, Sacilotto L, Sarquella-Brugada G, Campuzano O, Nof E, Anastasakis A, Sansone VA, Jimenez-Jaimez J, Cruz F, Sánchez-Quiñones J, Hernandez-Afonso J, Fuentes ME, Sredniawa B, Garoufi A, Andršová I, Izquierdo M, Marinov R, Danon A, Expósito-García V, Garcia-Fernandez A, Muñoz-Esparza C, Ortíz M, Zienciuk-Krajka A, Tavazzani E, Monteforte N, Bloise R, Marino M, Memmi M, Napolitano C, Zorio E, Monserrat L, Bagnardi V and Priori SG.

    Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1

    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY . 75(15): 1772-1784. Number of citations: 36

    [doi:10.1016/j.jacc.2020.02.033]

  • Campuzano O, Sarquella-Brugada G, Fernandez-Falgueras A, Coll M, Iglesias A, Ferrer-Costa C, César-Díaz S, Arbelo E, García-Álvarez A, Jordà P, Toro R, Tiron de Llano C, Grassi S, Oliva A, Brugada J and Brugada R.

    Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes

    EBioMedicine . 54: 102732-102732. Number of citations: 56

    [doi:10.1016/j.ebiom.2020.102732]

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Number of citations: 42

    [doi:10.1002/jimd.12156]

  • Brugada-Terradellas J, Katritsis, DG, Arbelo, E, Arribas, F, Bax, JJ, Blomstrom-Lundqvist, C, Calkins, H, Corrado, D, Deftereos, SG, Diller, GP, Gomez-Doblas, JJ, Gorenek, B, Grace, A, Ho, SY, Kaski, JC, Kuck, KH, Lambiase, PD, Sacher, F, Sarquella-Brugada G, Suwalski, P and Zaza, A.

    2019 ESC Guidelines for the management of patients with supraventricular tachycardia The Task Force for the management of patients with supraventricular tachycardia of the European Society of Cardiology (ESC): Developed in collaboration with the Association for European Paediatric and Congenital Cardiology (AEPC)

    EUROPEAN HEART JOURNAL . 41(5): 655-720. Number of citations: 609

    [doi:10.1093/eurheartj/ehz467]