Publications:

Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.

Journal Of Personalized Medicine

Martínez-Barrios, Estefanía E; Sarquella-Brugada, Georgia G; Pérez-Serra, Alexandra A; Fernández-Falgueras, Anna A; Cesar, Sergi S; Coll, Mónica M; Puigmulé, Marta M; Iglesias, Anna A; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Picó, Ferran F; López, Laura L; Fiol, Victoria V; Cruzalegui, José J; Hernández, Clara C; Arbelo, Elena E; Grassi, Simone S; Oliva, Antonio A; Toro, Rocío R; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2022-02-08

Variant appearance in text: TTN: 62185A>G

PubMed Link: 35207729

Variant Present in the following documents:

• jpm-12-00241.pdf

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Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.

European Journal Of Human Genetics : Ejhg

Mates, Jesus J; Mademont-Soler, Irene I; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Coll, Monica M; Pérez-Serra, Alexandra A; Picó, Ferran F; Allegue, Catarina C; Fernandez-Falgueras, Anna A; Álvarez, Patricia P; Yotti, Raquel R; Espinosa, Maria Angeles MA; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Carro, Ester E; Brugada, Josep J; Arbelo, Elena E; Garcia-Pavia, Pablo P; Borregan, Mar M; Tizzano, Eduardo E; López-Granados, Amador A; Mazuelos, Francisco F; Díaz de Bustamante, Aranzazu A; Darnaude, Maria Teresa MT; González-Hevia, José Ignacio JI; Díaz-Flores, Felícitas F; Trujillo, Francisco F; Iglesias, Anna A; Fernandez-Aviles, Francisco F; Campuzano, Oscar O; Brugada, Ramon R

Publication Date: 2018-07

Variant appearance in text: TTN: 62185A>G

PubMed Link: 29511324

Variant Present in the following documents:

• Main text

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

Plos One

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Mademont-Soler, Irene I; Allegue, Catarina C; Cesar, Sergi S; Ferrer-Costa, Carles C; Coll, Monica M; Mates, Jesus J; Iglesias, Anna A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2014

Variant appearance in text: TTN: 62185A>G

PubMed Link: 25494010

Variant Present in the following documents:

• Main text

View BVdb publication page