LMNA -related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation von 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, Exposito-Escudero, Jessica, Ortez, Carlos, Nascimento, Andrés, Brugada, Ramon, Sarquella-Brugada, Georgia, Campuzano, Oscar

Volltext

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

Volltext

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

Volltext

Clinical impact of rare variants associated with inherited channelopathies: a 5-year update von 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, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar

Volltext

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort von 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, Oliva, Antonio, Toro, Rocío, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar

Volltext

High-quality RNA improves sensitivity of SARS-CoV-2 detection by colorimetric RT-LAMP von Puigmulé, Marta, Coll, Mònica, Pérez-Serra, Alexandra, López, Laura, Picó, Ferran, Neto, Nuria, Corona, Mònica, Pinsach-Abuin, Mel·lina, Ferrer-Costa, Carles, Buxó, Maria, Queralt, Francesc-Xavier, Brugada, Ramon

Volltext

Unpredicted Aberrant Splicing Products Identified in Postmortem Sudden Cardiac Death Samples von 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

Volltext

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

Volltext

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis? von Mates, Jesus, Mademont-Soler, Irene, Fernandez-Falgueras, Anna, Sarquella-Brugada, Georgia, Cesar, Sergi, Arbelo, Elena, García-Álvarez, Ana, Jordà, Paloma, Toro, Rocío, Coll, Mónica, Fiol, Victoria, Iglesias, Anna, Perez-Serra, Alexandra, Olmo, Bernat del, Alcalde, Mireia, Puigmulé, Marta, Pico, Ferran, Lopez, Laura, Ferrer, Carles, Tiron, Coloma, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar

Volltext

Genetic characteristics involved in COVID‐19 severity. The CARGENCORS case‐control study and meta‐analysis von Camps‐Vilaró, Anna, Pinsach‐Abuin, Mel·lina, Degano, Irene R., Ramos, Rafel, Martí‐Lluch, Ruth, Elosua, Roberto, Subirana, Isaac, Solà‐Richarte, Clàudia, Puigmulé, Marta, Pérez, Alexandra, Vilaró, Ingrid, Cruz, Raquel, Diz‐de Almeida, Silvia, Nogues, Xavier, Masclans, Joan R., Güerri‐Fernández, Roberto, Marin, Judith, Tizon‐Marcos, Helena, Vaquerizo, Beatriz, Brugada, Ramon, Marrugat, Jaume

Volltext

Post-mortem toxicology analysis in a young sudden cardiac death cohort von Coll, Mònica, Fernàndez-Falgueras, Anna, Tiron, Coloma, Iglesias, Anna, Buxó, Maria, Simón, Adrià, Nogué-Navarro, Laia, Moral, Sergio, Pérez-Serra, Alexandra, Puigmulé, Marta, del Olmo, Bernat, Campuzano, Oscar, Castellà, Josep, Picó, Ferran, Lopez, Laura, Neto, Nuria, Corona, Mònica, Alcalde, Mireia, Brugada, Ramon

Volltext

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

Volltext

Rare variants in genes encoding structural myocyte contribute to a thickened ventricular septum in sudden death population without ventricular alterations von Alcalde, Mireia, Nogué-Navarro, Laia, Tiron, Coloma, Fernandez-Falgueras, Anna, Iglesias, Anna, Simon, Adria, Buxó, Maria, Pérez-Serra, Alexandra, Puigmulé, Marta, López, Laura, Picó, Ferran, del Olmo, Bernat, Corona, Monica, Campuzano, Oscar, Moral, Sergio, Castella, Josep, Coll, Mònica, Brugada, Ramon

Volltext

Molecular autopsy in a cohort of infants died suddenly at rest von Campuzano, Oscar, Beltramo, Pilar, Fernandez, Anna, Iglesias, Anna, García, Laura, Allegue, Catarina, Sarquella-Brugada, Georgia, Coll, Monica, Perez-Serra, Alexandra, Mademont-Soler, Irene, Mates, Jesus, del Olmo, Bernat, Rodríguez, Ángeles, Maciel, Natalia, Puigmulé, Marta, Pico, Ferran, Cesar, Sergi, Brugada, Josep, Cuesta, Alejandro, Gutierrez, Carmen, Brugada, Ramon

Volltext

Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies von 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, Brugada, Josep, Brugada, Ramon

Volltext

Epididymal maturation and ejaculation are key events for further in vitro capacitation of boar spermatozoa von Fàbrega, Anna, Puigmulé, Marta, Bonet, Sergi, Pinart, Elisabeth

Volltext

Impact of epididymal maturation, ejaculation and in vitro capacitation on tyrosine phosphorylation patterns exhibited of boar (Sus domesticus) spermatozoa von F brega, Anna, Puigmulé, Marta, Yeste, Marc, Casas, Isabel, Bonet, Sergi, Pinart, Elisabeth

Volltext

Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death von Sarquella-Brugada, Georgia, García-Algar, Oscar, Zambrano, María Dolores, Fernández-Falgueres, Anna, Sailer, Sebastian, Cesar, Sergi, Sebastiani, Giorgia, Martí-Almor, Julio, Aurensanz, Esther, Cruzalegui, Jose Carlos, Merchan, Erika Fernanda, Coll, Mónica, Pérez-Serra, Alexandra, Del Olmo, Bernat, Fiol, Victoria, Iglesias, Anna, Ferrer-Costa, Carles, Puigmulé, Marta, Lopez, Laura, Pico, Ferran, Arbelo, Elena, Jordà, Paloma, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar

Volltext

Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later von 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, Olmo, Bernat Del, Picó, Ferran, Lopez, Laura, Jordà, Paloma, García-Álvarez, Ana, Llano, Coloma Tirón de, Toro, Rocío, Grassi, Simone, Oliva, Antonio, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar

Volltext

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes von 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, Toro, Rocío, Brugada, Josep, Brugada, Ramon, Campuzano, Oscar

Volltext