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: 1389C>G

PubMed Link: 37324772

Variant Present in the following documents:

• Main text

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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: 1389C>G; Phe463Leu

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4

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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: F463L

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.

Medicine

Du, Fengli F; Wang, Guangxin G; Wang, Dawei D; Su, Guoying G; Yao, Guixiang G; Zhang, Wei W; Su, Guohai G

Publication Date: 2020-04

Variant appearance in text: HERG: F463L

PubMed Link: 32311972

Variant Present in the following documents:

• medi-99-e19749.pdf

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Experimentally Validated Pharmacoinformatics Approach to Predict hERG Inhibition Potential of New Chemical Entities.

Frontiers In Pharmacology

Munawar, Saba S; Windley, Monique J MJ; Tse, Edwin G EG; Todd, Matthew H MH; Hill, Adam P AP; Vandenberg, Jamie I JI; Jabeen, Ishrat I

Publication Date: 2018

Variant appearance in text: HERG: F463L

PubMed Link: 30333745

Variant Present in the following documents:

• fphar-09-01035.pdf

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Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy.

Molecular Medicine Reports

Li, Guoliang G; Shi, Rui R; Wu, Jine J; Han, Wenqi W; Zhang, Aifeng A; Cheng, Gong G; Xue, Xiaolin X; Sun, Chaofeng C

Publication Date: 2016-03

Variant appearance in text: LQT2: F463L

PubMed Link: 26847485

Variant Present in the following documents:

• Main text
• mmr-13-03-2467.pdf

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Functional interactions of voltage sensor charges with an S2 hydrophobic plug in hERG channels.

The Journal Of General Physiology

Cheng, Yen May YM; Hull, Christina M CM; Niven, Christine M CM; Qi, Ji J; Allard, Charlene R CR; Claydon, Tom W TW

Publication Date: 2013-09

Variant appearance in text: Kv11.1: F463L

PubMed Link: 23980197

Variant Present in the following documents:

• Main text

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Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes.

European Heart Journal

Matsa, Elena E; Dixon, James E JE; Medway, Christopher C; Georgiou, Orestis O; Patel, Minal J MJ; Morgan, Kevin K; Kemp, Paul J PJ; Staniforth, Andrew A; Mellor, Ian I; Denning, Chris C

Publication Date: 2014-04

Variant appearance in text: HERG: F463L

PubMed Link: 23470493

Variant Present in the following documents:

• eht067.pdf

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Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation.

European Heart Journal

Matsa, Elena E; Rajamohan, Divya D; Dick, Emily E; Young, Lorraine L; Mellor, Ian I; Staniforth, Andrew A; Denning, Chris C

Publication Date: 2011-04

Variant appearance in text: HERG: F463L

PubMed Link: 21367833

Variant Present in the following documents:

• ehr073.pdf

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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: F463L

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

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