Genetic basis of atrial fibrillation

por Campuzano, Oscar, Perez-Serra, Alexandra, Iglesias, Anna, Brugada, Ramon
Publicado 2016

Determining the Pathogenicity of Genetic Variants Associated with Cardiac Channelopathies

por Campuzano, Oscar, Allegue, Catarina, Fernandez, Anna, Iglesias, Anna, Brugada, Ramon
Publicado 2015

Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene

por Toro, Rocio, Pérez-Serra, Alexandra, Campuzano, Oscar, Moncayo-Arlandi, Javier, Allegue, Catarina, Iglesias, Anna, Mangas, Alipio, Brugada, Ramon
Publicado 2016

Short QT and atrial fibrillation: A KCNQ1 mutation–specific disease. Late follow-up in three unrelated children

por Sarquella-Brugada, Georgia, Campuzano, Oscar, Iglesias, Anna, Grueso, Josefina, Bradley, David J., Kerst, Gunter, Shmorhun, Daniel, Brugada, Josep, Brugada, Ramon
Publicado 2015

Sudden Death without a Clear Cause after Comprehensive Investigation: An Example of Forensic Approach to Atypical/Uncertain Findings

por Grassi, Simone, Vidal, Mònica Coll, Campuzano, Oscar, Arena, Vincenzo, Alfonsetti, Alessandro, Rossi, Sabina Strano, Scarnicci, Francesca, Iglesias, Anna, Brugada, Ramon, Oliva, Antonio
Publicado 2021

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

por Allegue, Catarina, Coll, Mònica, Mates, Jesus, Campuzano, Oscar, Iglesias, Anna, Sobrino, Beatriz, Brion, Maria, Amigo, Jorge, Carracedo, Angel, Brugada, Pedro, Brugada, Josep, Brugada, Ramon
Publicado 2015

Stop-Gain Mutations in PKP2 Are Associated with a Later Age of Onset of Arrhythmogenic Right Ventricular Cardiomyopathy

por Alcalde, Mireia, Campuzano, Oscar, Berne, Paola, García-Pavía, Pablo, Doltra, Ada, Arbelo, Elena, Sarquella-Brugada, Georgia, Iglesias, Anna, Alonso-Pulpon, Luis, Brugada, Josep, Brugada, Ramon
Publicado 2014

Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology

por Campuzano, Oscar, Sarquella-Brugada, Georgia, Mademont-Soler, Irene, Allegue, Catarina, Cesar, Sergi, Ferrer-Costa, Carles, Coll, Monica, Mates, Jesus, Iglesias, Anna, Brugada, Josep, Brugada, Ramon
Publicado 2014

Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death

por Campuzano, Oscar, Sanchez-Molero, Olallo, Mademont-Soler, Irene, Riuró, Helena, Allegue, Catarina, Coll, Monica, Pérez-Serra, Alexandra, Mates, Jesus, Picó, Ferran, Iglesias, Anna, Brugada, Ramon
Publicado 2015

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

por 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
Publicado 2017

Eosinophilic Infiltration of the Sino-Atrial Node in Sudden Cardiac Death Caused by Long QT Syndrome

por Grassi, Simone, Campuzano, Oscar, Coll, Mònica, Cazzato, Francesca, Iglesias, Anna, Ausania, Francesco, Scarnicci, Francesca, Sarquella-Brugada, Georgia, Brugada, Josep, Arena, Vincenzo, Oliva, Antonio, Brugada, Ramon
Publicado 2022

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

por 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
Publicado 2017

Electrocardiographic Assessment and Genetic Analysis in Neonates: A Current Topic of Discussion

por Sarquella-Brugada, Georgia, Cesar, Sergi, Zambrano, Maria Dolores, Fernandez-Falgueras, Anna, Fiol, Victoria, Iglesias, Anna, Torres, Francesc, Garcia-Algar, Oscar, Arbelo, Elena, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar
Publicado 2019

A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

por Tarradas, Anna, Selga, Elisabet, Beltran-Alvarez, Pedro, Pérez-Serra, Alexandra, Riuró, Helena, Picó, Ferran, Iglesias, Anna, Campuzano, Oscar, Castro-Urda, Víctor, Fernández-Lozano, Ignacio, Pérez, Guillermo J., Scornik, Fabiana S., Brugada, Ramon
Publicado 2013

Role of genetic and electrolyte abnormalities in prolonged QTc interval and sudden cardiac death in end-stage renal disease patients

por Coll, Monica, Ferrer-Costa, Carles, Pich, Sara, Allegue, Catarina, Rodrigo, Emilio, Fernández-Fresnedo, Gema, Barreda, Paloma, Mates, Jesus, Martinez de Francisco, Angel Luis, Ortega, Israel, Iglesias, Anna, Campuzano, Oscar, Salas, Eduardo, Arias, Manuel, Brugada, Ramon
Publicado 2018

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

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

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

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

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples

por 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
Publicado 2022

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

por 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
Publicado 2019

Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants

por Pinsach-Abuin, Mel·lina, del Olmo, Bernat, Pérez-Agustin, Adrian, Mates, Jesus, Allegue, Catarina, Iglesias, Anna, Ma, Qi, Merkurjev, Daria, Konovalov, Sergiy, Zhang, Jing, Sheikh, Farah, Telenti, Amalio, Brugada, Josep, Brugada, Ramon, Gymrek, Melissa, di Iulio, Julia, Garcia-Bassets, Ivan, Pagans, Sara
Publicado 2021