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

Autor: Pérez-Serra, Alexandra^1,2 (AUTHOR) aperez@idibgi.org, Toro, Rocío^3,4 (AUTHOR) rocio.toro@uca.es, Martinez-Barrios, Estefanía^5,6,7 (AUTHOR) estefania.martinez@sjd.es, Iglesias, Anna^1,2 (AUTHOR) annai@brugada.org, Fernandez-Falgueras, Anna^1,2,8 (AUTHOR) annafernandez.girona.ics@gencat.cat, Alcalde, Mireia^1,2 (AUTHOR) malcalde@gencardio.com, Coll, Mónica^1,2 (AUTHOR) monicacoll.girona.ics@gencat.cat, Puigmulé, Marta^1,2 (AUTHOR) mpuigmule.girona.ics@gencat.cat, del Olmo, Bernat^1,2 (AUTHOR) bdelolmo@gencardio.com, Picó, Ferran^1,2 (AUTHOR) ferran.pico@gencardio.com, Lopez, Laura^1,2 (AUTHOR) llopez@gencardio.com, Arbelo, Elena^2,5,9 (AUTHOR) sergi.cesar@gmail.com, Cesar, Sergi^5,6,7 (AUTHOR) georgia@brugada.org, Llano, Coloma Tiron de⁸ (AUTHOR), Mangas, Alipio^3,4,10 (AUTHOR) alipio.mangas@uca.es, Brugada, Josep^2,5,9 (AUTHOR), Sarquella-Brugada, Georgia^5,6,7,11 (AUTHOR), Brugada, Ramon^1,2,8,11 (AUTHOR) ramon@brugada.org, Campuzano, Oscar^1,2,11 (AUTHOR) ramon@brugada.org

Publikováno v: International Journal of Molecular Sciences. Apr2024, Vol. 25 Issue 7, p3807. 15p.

Rare variants in genes encoding structural myocyte contribute to a thickened ventricular septum in sudden death population without ventricular alterations

Autor: 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

Publikováno v: In Forensic Science International: Genetics May 2022 58

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?

Autor: 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 ^*

Publikováno v: In Forensic Science International: Genetics July 2020 47

A microRNA Signature for the Diagnosis of Statins Intolerance.

Autor: Mangas, Alipio^1,2,3 (AUTHOR) jsrguezroca@gmail.com, Pérez-Serra, Alexandra^4,5 (AUTHOR) aperez@idibgi.org, Bonet, Fernando^1,2 (AUTHOR) elena.alonso@gm.uca.es, Muñiz, Ovidio⁶ (AUTHOR) ovidiomuniz@gmail.com, Fuentes, Francisco^7,8 (AUTHOR) ffuentes@uco.es, Gonzalez-Estrada, Aurora⁶ (AUTHOR) aglezestrada@gmail.com, Campuzano, Oscar^4,5,8,9 (AUTHOR) ocampuzano@idibgi.org, Rodriguez Roca, Juan Sebastian³ (AUTHOR), Alonso-Villa, Elena^1,2 (AUTHOR), Toro, Rocio^1,2 (AUTHOR) fbonetmartinez@gmail.com

Publikováno v: International Journal of Molecular Sciences. Aug2022, Vol. 23 Issue 15, p8146-8146. 18p.

Transcriptional regulation of the sodium channel gene (SCN5A) by GATA4 in human heart

Autor: Tarradas, Anna, Pinsach-Abuin, Mel·lina, Mackintosh, Carlos, Llorà-Batlle, Oriol, Pérez-Serra, Alexandra, Batlle, Montserrat, Pérez-Villa, Félix, Zimmer, Thomas, Garcia-Bassets, Ivan, Brugada, Ramon, Beltran-Alvarez, Pedro, Pagans, Sara

Publikováno v: In Journal of Molecular and Cellular Cardiology January 2017 102:74-82