Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death

por Morlanes-Gracia, Paula, Antoniutti, Guido, Alvarez-Rubio, Jorge, Torres-Juan, Laura, Heine-Suñer, Damian, Ripoll-Vera, Tomás
Publicado 2021

NOTCH1 Gene as a Novel Cause of Thoracic Aortic Aneurysm in Patients with Tricuspid Aortic Valve: Two Cases Reported

por Torres-Juan, Laura, Rico, Yolanda, Fortuny, Elena, Pons, Jaume, Ramos, Rafael, Santos-Simarro, Fernando, Asensio, Víctor, Martinez, Iciar, Heine-Suñer, Damian
Publicado 2023

Diagnostic Yield of Genetic Testing in Sudden Cardiac Death with Autopsy Findings of Uncertain Significance

por Iglesias, Mercedes, Ripoll-Vera, Tomas, Perez-Luengo, Consuelo, García, Ana Belen, Moyano, Susana, Canos, Juan Carlos, Borondo, Juan Carlos, Alvarez, Jorge, Heine-Suñer, Damian, Barcelo, Bernardino
Publicado 2021

Genome-wide linkage analysis of congenital heart defects using MOD score analysis identifies two novel loci

por Flaquer, Antònia, Baumbach, Clemens, Piñero, Estefania, García Algas, Fernando, de la Fuente Sanchez, María Angeles, Rosell, Jordi, Toquero, Jorge, Alonso-Pulpon, Luis, Garcia-Pavia, Pablo, Strauch, Konstantin, Heine-Suñer, Damian
Publicado 2013

Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7

por Antoniutti, Guido, Caimi-Martinez, Fiama Giuliana, Álvarez-Rubio, Jorge, Morlanes-Gracia, Paula, Pons-Llinares, Jaume, Rodríguez-Picón, Blanca, Fortuny-Frau, Elena, Torres-Juan, Laura, Heine-Suner, Damian, Ripoll-Vera, Tomas
Publicado 2022

New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy

por Caimi-Martinez, Fiama, Antoniutti, Guido, Blanco, Rocio, García de la Villa, Bernardo, Alvarenga, Nelson, Govea-Callizo, Nancy, Torres-Juan, Laura, Heine-Suñer, Damián, Rosell-Andreo, Jordi, Luengos, David Crémer, Alvarez-Rubio, Jorge, Ripoll-Vera, Tomás
Publicado 2022

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

por Zhao, Yingjie, Wang, Yujue, Shi, Lijie, McDonald-McGinn, Donna M., Crowley, T. Blaine, McGinn, Daniel E., Tran, Oanh T., Miller, Daniella, Lin, Jhih-Rong, Zackai, Elaine, Johnston, H. Richard, Chow, Eva W. C., Vorstman, Jacob A. S., Vingerhoets, Claudia, van Amelsvoort, Therese, Gothelf, Doron, Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Eliez, Stephan, Schneider, Maude, van den Bree, Marianne B. M., Owen, Michael J., Kates, Wendy R., Repetto, Gabriela M., Shashi, Vandana, Schoch, Kelly, Bearden, Carrie E., Digilio, M. Cristina, Unolt, Marta, Putotto, Carolina, Marino, Bruno, Pontillo, Maria, Armando, Marco, Vicari, Stefano, Angkustsiri, Kathleen, Campbell, Linda, Busa, Tiffany, Heine-Suñer, Damian, Murphy, Kieran C., Murphy, Declan, García-Miñaúr, Sixto, Fernández, Luis, Zhang, Zhengdong D., Goldmuntz, Elizabeth, Gur, Raquel E., Emanuel, Beverly S., Zheng, Deyou, Marshall, Christian R., Bassett, Anne S., Wang, Tao, Morrow, Bernice E.
Publicado 2023