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: 1918T>G; rs199473529

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

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COVID-19 vaccination in patients with long QT syndrome.

Heart Rhythm O2

Wu, Cheng-I CI; Schwartz, Peter J PJ; Ackerman, Michael J MJ; Wilde, Arthur A M AAM

Publication Date: 2022-08-03

Variant appearance in text: LQT2: F640V

PubMed Link: 35937046

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Towards Mutation-Specific Precision Medicine in Atypical Clinical Phenotypes of Inherited Arrhythmia Syndromes.

International Journal Of Molecular Sciences

Nakajima, Tadashi T; Tamura, Shuntaro S; Kurabayashi, Masahiko M; Kaneko, Yoshiaki Y

Publication Date: 2021-04-10

Variant appearance in text: KCNH2: F640V

PubMed Link: 33920294

Variant Present in the following documents:

• Main text

View BVdb publication page

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: F640V

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNH2: F640V

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT2: F640V

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNH2: F640V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNH2: 1918T>G

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy

Harkcom, William T WT; Abbott, Geoffrey W GW

Publication Date: 2010-08

Variant appearance in text: LQT2: F640V

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fever-triggered ventricular arrhythmias in Brugada syndrome and type 2 long-QT syndrome.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

Amin, A S AS; Klemens, C A CA; Verkerk, A O AO; Meregalli, P G PG; Asghari-Roodsari, A A; de Bakker, J M T JM; January, C T CT; Wilde, A A M AA; Tan, H L HL

Publication Date: 2010-03

Variant appearance in text: HERG: F640V

PubMed Link: 20390067

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome.

The Journal Of Clinical Investigation

Amin, Ahmad S AS; Herfst, Lucas J LJ; Delisle, Brian P BP; Klemens, Christine A CA; Rook, Martin B MB; Bezzina, Connie R CR; Underkofler, Heather A S HA; Holzem, Katherine M KM; Ruijter, Jan M JM; Tan, Hanno L HL; January, Craig T CT; Wilde, Arthur A M AA

Publication Date: 2008-07

Variant appearance in text: HERG: F640V

PubMed Link: 18551196

Variant Present in the following documents:

• Main text

View BVdb publication page

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