Persones / Equip Humà

Georgia Sarquella Brugada

Buscador de publicacions

Publicacions

  • Campuzano O, Sarquella-Brugada G, César-Díaz S, Arbelo E, Brugada-Terradellas J and Brugada R.

    Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(19): . Nº de cites: 27

    [doi:10.3390/ijms21197155]

  • 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. Nº de cites: 67

    [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. Nº de cites: 40

    [doi:10.1016/j.jacc.2020.05.029]

  • 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. Nº de cites: 2

    [doi:10.1016/j.gene.2020.144658]

  • 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. Nº de cites: 20

    [doi:10.1016/j.fsigen.2020.102281]

  • 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): . Nº de cites: 5

    [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. Nº de cites: 33

    [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. Nº de cites: 41

    [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. Nº de cites: 32

    [doi:10.1002/jimd.12156]