Publications:

Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: 2639G>T

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: KCNH2: 2639G>T; Gly880Val

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

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Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

European Journal Of Human Genetics : Ejhg

Riuró, Helena H; Campuzano, Oscar O; Berne, Paola P; Arbelo, Elena E; Iglesias, Anna A; Pérez-Serra, Alexandra A; Coll-Vidal, Mònica M; Partemi, Sara S; Mademont-Soler, Irene I; Picó, Ferran F; Allegue, Catarina C; Oliva, Antonio A; Gerstenfeld, Edward E; Sarquella-Brugada, Georgia G; Castro-Urda, Víctor V; Fernández-Lozano, Ignacio I; Mont, Lluís L; Brugada, Josep J; Scornik, Fabiana S FS; Brugada, Ramon R

Publication Date: 2015-01

Variant appearance in text: KCNH2: Gly880Val

PubMed Link: 24667783

Variant Present in the following documents:

• Main text

View BVdb publication page