Publications:

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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: 2779T>G

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: KCNH2: Trp927Gly

PubMed Link: 31315195

Variant Present in the following documents:

• Main text
• jcm-08-01035.pdf

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Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Forensic Sciences Research

Wu, Yeda Y; Ai, Mei M; Bardeesi, Adham Sameer A ASA; Xu, Lunwu L; Zheng, Jingjing J; Zheng, Da D; Yin, Kun K; Wu, Qiuping Q; Zhang, Liyong L; Huang, Lei L; Cheng, Jianding J

Publication Date: 2017

Variant appearance in text: KCNH2: W927G

PubMed Link: 30483629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: KCNH2: W927G

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.pdf

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Sudden cardiac arrest during marathon training in a young adult with short QT syndrome.

International Journal Of Cardiology. Heart & Vasculature

Wakatsuki, Daisuke D; Iso, Yoshitaka Y; Mase, Hiroshi H; Kurata, Masaaki M; Kyuno, Etsushi E; Shimojima, Hisa H; Asano, Taku T; Sambe, Takeyuki T; Suzuki, Hiroshi H

Publication Date: 2018-03

Variant appearance in text: KCNH2: W927G

PubMed Link: 29876509

Variant Present in the following documents:

• Main text
• main.pdf

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Genetics of Brugada syndrome.

Journal Of Arrhythmia

Juang, Jyh-Ming Jimmy JJ; Horie, Minoru M

Publication Date: 2016-10

Variant appearance in text: KCNH2: W927G

PubMed Link: 27761167

Variant Present in the following documents:

• Main text
• main.pdf

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: KCNH2: W927G

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s2.xlsx, sheet 7

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