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: 3347C>T; rs199473032

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine

Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: KCNH2: A1116V

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: KCNH2: 3347C>T; Ala1116Val

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNH2: 3347C>T; Ala1116Val

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica

Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX

Publication Date: 2014-12

Variant appearance in text: KCNH2: A1116V

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

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Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.

Embo Molecular Medicine

Friedrich, Corinna C; Rinné, Susanne S; Zumhagen, Sven S; Kiper, Aytug K AK; Silbernagel, Nicole N; Netter, Michael F MF; Stallmeyer, Birgit B; Schulze-Bahr, Eric E; Decher, Niels N

Publication Date: 2014-07

Variant appearance in text: KCNH2: Ala1116Val

PubMed Link: 24972929

Variant Present in the following documents:

• Main text
• emmm0006-0937.pdf

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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics

Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H

Publication Date: 2013-10

Variant appearance in text: KCNH2: 3347C>T; Ala1116Val

PubMed Link: 23820649

Variant Present in the following documents:

• Main text

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Long QT syndrome: beyond the causal mutation.

The Journal Of Physiology

Amin, Ahmad S AS; Pinto, Yigal M YM; Wilde, Arthur A M AA

Publication Date: 2013-09-01

Variant appearance in text: KCNH2: A1116V

PubMed Link: 23753525

Variant Present in the following documents:

• Main text

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Sequence and structure-specific elements of HERG mRNA determine channel synthesis and trafficking efficiency.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Sroubek, Jakub J; Krishnan, Yamini Y; McDonald, Thomas V TV

Publication Date: 2013-08

Variant appearance in text: HERG: A1116V

PubMed Link: 23608144

Variant Present in the following documents:

• Main text

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An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.

Circulation Research

Jou, Chuanchau J CJ; Barnett, Spencer M SM; Bian, Jian-Tao JT; Weng, H Cindy HC; Sheng, Xiaoming X; Tristani-Firouzi, Martin M

Publication Date: 2013-03-01

Variant appearance in text: KCNH2: A1116V

PubMed Link: 23303164

Variant Present in the following documents:

• Main text

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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology

Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ

Publication Date: 2012-12-18

Variant appearance in text: KCNH2: A1116V

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

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Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.

Translational Research : The Journal Of Laboratory And Clinical Medicine

Giudicessi, John R JR; Ackerman, Michael J MJ

Publication Date: 2013-01

Variant appearance in text: KCNH2: A1116V

PubMed Link: 22995932

Variant Present in the following documents:

• Main text

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Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Bmc Pharmacology & Toxicology

Polak, Sebastian S; Wiśniowska, Barbara B; Glinka, Anna A; Polak, Miłosz M

Publication Date: 2012-08-13

Variant appearance in text: KCNH2: A1116V

PubMed Link: 22947121

Variant Present in the following documents:

• Main text
• 2050-6511-13-6.pdf

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Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant.

Heart Rhythm

Crotti, Lia L; Hu, Dan D; Barajas-Martinez, Hector H; De Ferrari, Gaetano M GM; Oliva, Antonio A; Insolia, Roberto R; Pollevick, Guido D GD; Dagradi, Federica F; Guerchicoff, Alejandra A; Greco, Federica F; Schwartz, Peter J PJ; Viskin, Sami S; Antzelevitch, Charles C

Publication Date: 2012-07

Variant appearance in text: KCNH2: A1116V

PubMed Link: 22338672

Variant Present in the following documents:

• Main text

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Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Journal Of Cardiovascular Translational Research

Tan, Boon Yew BY; Jain, Rahul R; den Haan, A Dénise AD; Chen, Yan Y; Dalal, Darshan D; Tandri, Harikrishna H; Amat-Alarcon, Nuria N; Daly, Amy A; Tichnell, Crystal C; James, Cynthia C; Calkins, Hugh H; Judge, Daniel P DP

Publication Date: 2010-12

Variant appearance in text: KCNH2: A1116V

PubMed Link: 20857253

Variant Present in the following documents:

• Main text

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Importance of Knowing the Genotype and the Specific Mutation When Managing Patients with Long QT Syndrome.

Circulation. Arrhythmia And Electrophysiology

Moss, Arthur J AJ; Goldenberg, Ilan I

Publication Date: 2008-08

Variant appearance in text: KCNH2: A1116V

PubMed Link: 19701491

Variant Present in the following documents:

• Main text

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Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.

British Journal Of Pharmacology

Männikkö, Roope R; Overend, G G; Perrey, C C; Gavaghan, C L CL; Valentin, J-P JP; Morten, J J; Armstrong, M M; Pollard, C E CE

Publication Date: 2010-01

Variant appearance in text: KCNH2: A1116V

PubMed Link: 19673885

Variant Present in the following documents:

• Main text

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Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

Bmc Medical Genetics

Zhang, Xianqin X; Chen, Shenghan S; Zhang, Li L; Liu, Mugen M; Redfearn, Sharon S; Bryant, Randall M RM; Oberti, Carlos C; Vincent, G Michael GM; Wang, Qing K QK

Publication Date: 2008-09-23

Variant appearance in text: KCNH2: A1116V

PubMed Link: 18808722

Variant Present in the following documents:

• Main text
• 1471-2350-9-87.pdf

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Congenital long QT syndrome.

Orphanet Journal Of Rare Diseases

Crotti, Lia L; Celano, Giuseppe G; Dagradi, Federica F; Schwartz, Peter J PJ

Publication Date: 2008-07-07

Variant appearance in text: LQT2: A1116V

PubMed Link: 18606002

Variant Present in the following documents:

• Main text

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