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

by Monica Coll, Alexandra Pérez-Serra, Jesus Mates, Bernat del Olmo, Marta Puigmulé, Anna Fernandez-Falgueras, Anna Iglesias, Ferran Picó, Laura Lopez, Ramon Brugada, Oscar Campuzano
Published 2017-12-01

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

by Oscar Campuzano, Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Mónica Coll, Anna Iglesias, Carles Ferrer-Costa, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Rocío Toro, Coloma Tiron de Llano, Simone Grassi, Antonio Oliva, Josep Brugada, Ramon Brugada
Published 2020-04-01

Malignant Arrhythmogenic Role Associated with <i>RBM20</i>: A Comprehensive Interpretation Focused on a Personalized Approach

by Paloma Jordà, Rocío Toro, Carles Diez, Joel Salazar-Mendiguchía, Anna Fernandez-Falgueras, Alexandra Perez-Serra, Monica Coll, Marta Puigmulé, Elena Arbelo, Ana García-Álvarez, Georgia Sarquella-Brugada, Sergi Cesar, Coloma Tiron, Anna Iglesias, Josep Brugada, Ramon Brugada, Oscar Campuzano
Published 2021-02-01

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

by Oscar Campuzano, Anna Fernandez-Falgueras, Ximena Lemus, Georgia Sarquella-Brugada, Sergi Cesar, Monica Coll, Jesus Mates, Elena Arbelo, Paloma Jordà, Alexandra Perez-Serra, Bernat del Olmo, Carles Ferrer-Costa, Anna Iglesias, Victoria Fiol, Marta Puigmulé, Laura Lopez, Ferran Pico, Josep Brugada, Ramon Brugada
Published 2019-07-01

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

by Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, Sergi Cesar, Elena Arbelo, Elena Arbelo, Paloma Jordà, Paloma Jordà, Ana García-Álvarez, Ana García-Álvarez, Jose Carlos Cruzalegui, Erika Fernanda Merchan, Victoria Fiol, Josep Brugada, Josep Brugada, Josep Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano
Published 2021-02-01

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later

by Marta Vallverdú-Prats, Mireia Alcalde, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Anna Fernandez-Falgueras, Mónica Coll, Alexandra Pérez-Serra, Marta Puigmulé, Anna Iglesias, Victoria Fiol, Carles Ferrer-Costa, Bernat del Olmo, Ferran Picó, Laura Lopez, Paloma Jordà, Ana García-Álvarez, Coloma Tirón de Llano, Rocío Toro, Simone Grassi, Antonio Oliva, Josep Brugada, Ramon Brugada, Oscar Campuzano
Published 2021-02-01

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

by Olallo Sanchez, Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Irene Mademont, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Ferran Pico, Anna Iglesias, Coloma Tirón, Catarina Allegue, Esther Carro, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Narcís Bardalet, Juan Carlos Borondo, Albert Vingut, Elena Arbelo, Josep Brugada, Josep Castellà, Jordi Medallo, Ramon Brugada
Published 2016-01-01

Correction: Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

by Olallo Sanchez, Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Irene Mademont, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Ferran Pico, Anna Iglesias, Coloma Tirón, Catarina Allegue, Esther Carro, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Narcís Bardalet, Juan Carlos Borondo, Albert Vingut, Elena Arbelo, Josep Brugada, Josep Castellà, Jordi Medallo, Ramon Brugada
Published 2017-01-01

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies

by Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Monica Coll, Victoria Fiol, Anna Iglesias, Anna Iglesias, Alexandra Perez-Serra, Alexandra Perez-Serra, Jesus Mates, Bernat del Olmo, Carles Ferrer, Mireia Alcalde, Mireia Alcalde, Marta Puigmulé, Irene Mademont-Soler, Ferran Pico, Laura Lopez, Coloma Tiron, Josep Brugada, Josep Brugada, Josep Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada
Published 2019-05-01