Found: 17

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  • Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.

    Published in:
    PLoS ONE, 2017, v. 12, n. 12, p. 1, doi. 10.1371/journal.pone.0189618
    By:
    • Coll, Monica;
    • Striano, Pasquale;
    • Ferrer-Costa, Carles;
    • Campuzano, Oscar;
    • Matés, Jesús;
    • del Olmo, Bernat;
    • Iglesias, Anna;
    • Pérez-Serra, Alexandra;
    • Mademont, Irene;
    • Picó, Ferran;
    • Oliva, Antonio;
    • Brugada, Ramon
    Publication type:
    Article

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

    Published in:
    Frontiers in Genetics, 2023, v. 14, p. 01, doi. 10.3389/fgene.2023.1135438
    By:
    • Cesar, Sergi;
    • Coll, Monica;
    • Fiol, Victoria;
    • Fernandez-Falgueras, Anna;
    • Cruzalegui, Jose;
    • Iglesias, Anna;
    • Moll, Isaac;
    • Perez-Serra, Alexandra;
    • Martínez-Barrios, Estefanía;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Puigmulè, Marta;
    • Alcalde, Mireia;
    • Lopez, Laura;
    • Pico, Ferran;
    • Berrueco, Rubén;
    • Brugada, Josep;
    • Zschaeck, Irene;
    • Natera-de Benito, Daniel;
    • Carrera-García, Laura
    Publication type:
    Article

  • Implementing a New Algorithm for Reinterpretation of Ambiguous Variants in Genetic Dilated Cardiomyopathy.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3807, doi. 10.3390/ijms25073807
    By:
    • Pérez-Serra, Alexandra;
    • Toro, Rocío;
    • Martinez-Barrios, Estefanía;
    • Iglesias, Anna;
    • Fernandez-Falgueras, Anna;
    • Alcalde, Mireia;
    • Coll, Mónica;
    • Puigmulé, Marta;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • Lopez, Laura;
    • Arbelo, Elena;
    • Cesar, Sergi;
    • Llano, Coloma Tiron de;
    • Mangas, Alipio;
    • Brugada, Josep;
    • Sarquella-Brugada, Georgia;
    • Brugada, Ramon;
    • Campuzano, Oscar
    Publication type:
    Article

  • Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 20, p. 12640, doi. 10.3390/ijms232012640
    By:
    • Coll, Monica;
    • Fernandez-Falgueras, Anna;
    • Iglesias, Anna;
    • del Olmo, Bernat;
    • Nogue-Navarro, Laia;
    • Simon, Adria;
    • Perez Serra, Alexandra;
    • Puigmule, Marta;
    • Lopez, Laura;
    • Pico, Ferran;
    • Corona, Monica;
    • Vallverdu-Prats, Marta;
    • Tiron, Coloma;
    • Campuzano, Oscar;
    • Castella, Josep;
    • Brugada, Ramon;
    • Alcalde, Mireia
    Publication type:
    Article

  • Sudden death due to catecholaminergic polymorphic ventricular tachycardia following negative stress-test outcome: genetics and clinical implications.

    Published in:
    Forensic Science, Medicine & Pathology, 2017, v. 13, n. 2, p. 217, doi. 10.1007/s12024-017-9862-9
    By:
    • D'Ovidio, Cristian;
    • Carnevale, Aldo;
    • Grassi, Vincenzo;
    • Rosato, Enrica;
    • Del Olmo, Bernat;
    • Coll, Monica;
    • Campuzano, Oscar;
    • Iglesias, Anna;
    • Brugada, Ramon;
    • Oliva, Antonio
    Publication type:
    Article

  • Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5836, doi. 10.3390/ijms25115836
    By:
    • Martínez Olorón, Patricia;
    • Alegría, Iosune;
    • Cesar, Sergi;
    • del Olmo, Bernat;
    • Martínez-Barrios, Estefanía;
    • Carrera-García, Laura;
    • Natera-de Benito, Daniel;
    • Nascimento, Andrés;
    • Campuzano, Oscar;
    • Sarquella-Brugada, Georgia
    Publication type:
    Article

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

    Published in:
    Human Genetics, 2022, v. 141, n. 10, p. 1579, doi. 10.1007/s00439-021-02370-4
    By:
    • Sarquella-Brugada, Georgia;
    • Fernandez-Falgueras, Anna;
    • Cesar, Sergi;
    • Arbelo, Elena;
    • Coll, Mónica;
    • Perez-Serra, Alexandra;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Alcalde, Mireia;
    • Vallverdú-Prats, Marta;
    • Fiol, Victoria;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • Lopez, Laura;
    • García-Alvarez, Ana;
    • Jordà, Paloma;
    • Tiron de Llano, Coloma;
    • Toro, Rocío;
    • Grassi, Simone
    Publication type:
    Article

  • Incomplete Penetrance and Variable Expressivity: Hallmarks in Channelopathies Associated with Sudden Cardiac Death.

    Published in:
    Biology (2079-7737), 2018, v. 7, n. 1, p. 3, doi. 10.3390/biology7010003
    By:
    • Coll, Monica;
    • Pérez-Serra, Alexandra;
    • Mates, Jesus;
    • del Olmo, Bernat;
    • Puigmulé, Marta;
    • Fernandez-Falgueras, Anna;
    • Iglesias, Anna;
    • Picó, Ferran;
    • Lopez, Laura;
    • Brugada, Ramon;
    • Campuzano, Oscar
    Publication type:
    Article

  • Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

    Published in:
    PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181465
    By:
    • Mademont-Soler, Irene;
    • Mates, Jesus;
    • Yotti, Raquel;
    • Espinosa, Maria Angeles;
    • Pérez-Serra, Alexandra;
    • Fernandez-Avila, Ana Isabel;
    • Coll, Monica;
    • Méndez, Irene;
    • Iglesias, Anna;
    • del Olmo, Bernat;
    • Riuró, Helena;
    • Cuenca, Sofía;
    • Allegue, Catarina;
    • Campuzano, Oscar;
    • Picó, Ferran;
    • Ferrer-Costa, Carles;
    • Álvarez, Patricia;
    • Castillo, Sergio;
    • Garcia-Pavia, Pablo;
    • Gonzalez-Lopez, Esther
    Publication type:
    Article

  • Large Genomic Imbalances in Brugada Syndrome.

    Published in:
    PLoS ONE, 2016, v. 11, n. 9, p. 1, doi. 10.1371/journal.pone.0163514
    By:
    • Mademont-Soler, Irene;
    • Pinsach-Abuin, Mel·lina;
    • Riuró, Helena;
    • Mates, Jesus;
    • Pérez-Serra, Alexandra;
    • Coll, Mònica;
    • Porres, José Manuel;
    • del Olmo, Bernat;
    • Iglesias, Anna;
    • Selga, Elisabet;
    • Picó, Ferran;
    • Pagans, Sara;
    • Ferrer-Costa, Carles;
    • Sarquella-Brugada, Geòrgia;
    • Arbelo, Elena;
    • Cesar, Sergi;
    • Brugada, Josep;
    • Campuzano, Óscar;
    • Brugada, Ramon
    Publication type:
    Article

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

    Published in:
    International Journal of Legal Medicine, 2023, v. 137, n. 2, p. 345, doi. 10.1007/s00414-023-02951-0
    By:
    • Martinez-Barrios, Estefanía;
    • Sarquella-Brugada, Georgia;
    • Perez-Serra, Alexandra;
    • Fernandez-Falgueras, Anna;
    • Cesar, Sergi;
    • Alcalde, Mireia;
    • Coll, Mónica;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • Lopez, Laura;
    • Fiol, Victoria;
    • Cruzalegui, José;
    • Hernandez, Clara;
    • Arbelo, Elena;
    • Díez-Escuté, Nuria;
    • Cerralbo, Patricia;
    • Grassi, Simone
    Publication type:
    Article

  • Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

    Published in:
    Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00450
    By:
    • Campuzano, Oscar;
    • Fernandez-Falgueras, Anna;
    • Sarquella-Brugada, Georgia;
    • Cesar, Sergi;
    • Arbelo, Elena;
    • García-Álvarez, Ana;
    • Jordà, Paloma;
    • Coll, Monica;
    • Fiol, Victoria;
    • Iglesias, Anna;
    • Perez-Serra, Alexandra;
    • Mates, Jesus;
    • del Olmo, Bernat;
    • Ferrer, Carles;
    • Alcalde, Mireia;
    • Puigmulé, Marta;
    • Mademont-Soler, Irene;
    • Pico, Ferran;
    • Lopez, Laura;
    • Tiron, Coloma
    Publication type:
    Article

  • Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.

    Published in:
    Human Mutation, 2019, v. 40, n. 6, p. 749, doi. 10.1002/humu.23730
    By:
    • Campuzano, Oscar;
    • Sarquella‐Brugada, Georgia;
    • Fernandez‐Falgueras, Anna;
    • Cesar, Sergi;
    • Coll, Monica;
    • Mates, Jesus;
    • Arbelo, Elena;
    • Perez‐Serra, Alexandra;
    • del Olmo, Bernat;
    • Jordá, Paloma;
    • Fiol, Victoria;
    • Iglesias, Anna;
    • Puigmulé, Marta;
    • Lopez, Laura;
    • Pico, Ferran;
    • Brugada, Josep;
    • Brugada, Ramon
    Publication type:
    Article

  • Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 1035, doi. 10.3390/jcm8071035
    By:
    • Campuzano, Oscar;
    • Fernandez-Falgueras, Anna;
    • Lemus, Ximena;
    • Sarquella-Brugada, Georgia;
    • Cesar, Sergi;
    • Coll, Monica;
    • Mates, Jesus;
    • Arbelo, Elena;
    • Jordà, Paloma;
    • Perez-Serra, Alexandra;
    • del Olmo, Bernat;
    • Ferrer-Costa, Carles;
    • Iglesias, Anna;
    • Fiol, Victoria;
    • Puigmulé, Marta;
    • Lopez, Laura;
    • Pico, Ferran;
    • Brugada, Josep;
    • Brugada, Ramon
    Publication type:
    Article

  • Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 1035, doi. 10.3390/jcm8071035
    By:
    • Campuzano, Oscar;
    • Fernandez-Falgueras, Anna;
    • Lemus, Ximena;
    • Sarquella-Brugada, Georgia;
    • Cesar, Sergi;
    • Coll, Monica;
    • Mates, Jesus;
    • Arbelo, Elena;
    • Jordà, Paloma;
    • Perez-Serra, Alexandra;
    • del Olmo, Bernat;
    • Ferrer-Costa, Carles;
    • Iglesias, Anna;
    • Fiol, Victoria;
    • Puigmulé, Marta;
    • Lopez, Laura;
    • Pico, Ferran;
    • Brugada, Josep;
    • Brugada, Ramon
    Publication type:
    Article

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

    Published in:
    Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020241
    By:
    • Martínez-Barrios, Estefanía;
    • Sarquella-Brugada, Georgia;
    • Pérez-Serra, Alexandra;
    • Fernández-Falgueras, Anna;
    • Cesar, Sergi;
    • Coll, Mónica;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Alcalde, Mireia;
    • Vallverdú-Prats, Marta;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • López, Laura;
    • Fiol, Victoria;
    • Cruzalegui, José;
    • Hernández, Clara;
    • Arbelo, Elena;
    • Grassi, Simone;
    • Oliva, Antonio
    Publication type:
    Article

  • Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.

    Published in:
    Journal of Personalized Medicine, 2021, v. 11, n. 3, p. 162, doi. 10.3390/jpm11030162
    By:
    • Vallverdú-Prats, Marta;
    • Alcalde, Mireia;
    • Sarquella-Brugada, Georgia;
    • Cesar, Sergi;
    • Arbelo, Elena;
    • Fernandez-Falgueras, Anna;
    • Coll, Mónica;
    • Pérez-Serra, Alexandra;
    • Puigmulé, Marta;
    • Iglesias, Anna;
    • Fiol, Victoria;
    • Ferrer-Costa, Carles;
    • del Olmo, Bernat;
    • Picó, Ferran;
    • Lopez, Laura;
    • Jordà, Paloma;
    • García-Álvarez, Ana;
    • Tirón de Llano, Coloma;
    • Toro, Rocío;
    • Grassi, Simone
    Publication type:
    Article