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: R744*; rs189014161

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 2230C>T; Arg744Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genetic Biomarkers of Antipsychotic-Induced Prolongation of the QT Interval in Patients with Schizophrenia.

International Journal Of Molecular Sciences

Vaiman, Elena E EE; Shnayder, Natalia A NA; Zhuravlev, Nikita M NM; Petrova, Marina M MM; Asadullin, Azat R AR; Al-Zamil, Mustafa M; Garganeeva, Natalia P NP; Shipulin, German A GA; Cumming, Paul P; Nasyrova, Regina F RF

Publication Date: 2022-12-13

Variant appearance in text: rs189014161

PubMed Link: 36555428

Variant Present in the following documents:

• Main text
• ijms-23-15786.pdf

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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine

Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W

Publication Date: 2022

Variant appearance in text: LQT2: R744X

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

Human Genetics

Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Cesar, Sergi S; Arbelo, Elena E; Coll, Mónica M; Perez-Serra, Alexandra A; Puigmulé, Marta M; Iglesias, Anna A; Alcalde, Mireia M; Vallverdú-Prats, Marta M; Fiol, Victoria V; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Picó, Ferran F; Lopez, Laura L; García-Alvarez, Ana A; Jordà, Paloma P; Tiron de Llano, Coloma C; Toro, Rocío R; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2022-10

Variant appearance in text: KCNH2: 2230C>T; Arg744Ter; rs189014161

PubMed Link: 34546463

Variant Present in the following documents:

• Main text
• 439_2021_Article_2370.pdf

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Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death.

Frontiers In Pediatrics

Sarquella-Brugada, Georgia G; García-Algar, Oscar O; Zambrano, María Dolores MD; Fernández-Falgueres, Anna A; Sailer, Sebastian S; Cesar, Sergi S; Sebastiani, Giorgia G; Martí-Almor, Julio J; Aurensanz, Esther E; Cruzalegui, Jose Carlos JC; Merchan, Erika Fernanda EF; Coll, Mónica M; Pérez-Serra, Alexandra A; Del Olmo, Bernat B; Fiol, Victoria V; Iglesias, Anna A; Ferrer-Costa, Carles C; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Arbelo, Elena E; Jordà, Paloma P; Brugada, Josep J; Brugada, Ramon R; Campuzano, Oscar O

Publication Date: 2021

Variant appearance in text: KCNH2: 2230C>T; Arg744ter; rs189014161

PubMed Link: 34395343

Variant Present in the following documents:

• Main text
• fped-09-704580.pdf

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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.

Circulation. Genomic And Precision Medicine

Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haggerty, Christopher M CM; Hall, Amelia W AW; Halford, Jennifer L JL; Morrill, Valerie N VN; Weng, Lu-Chen LC; Lagerman, Braxton B; Mirshahi, Tooraj T; Pettinger, Mary M; Guo, Xiuqing X; Lin, Henry J HJ; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Kornej, Jelena J; Lin, Honghuang H; Moscati, Arden A; Nadkarni, Girish N GN; Brody, Jennifer A JA; Wiggins, Kerri L KL; Cade, Brian E BE; Lee, Jiwon J; Austin-Tse, Christina C; Blackwell, Tom T; Chaffin, Mark D MD; Lee, Christina J-Y CJ; Rehm, Heidi L HL; Roselli, Carolina C; , ; Redline, Susan S; Mitchell, Braxton D BD; Sotoodehnia, Nona N; Psaty, Bruce M BM; Heckbert, Susan R SR; Loos, Ruth J F RJF; Vasan, Ramachandran S RS; Benjamin, Emelia J EJ; Correa, Adolfo A; Boerwinkle, Eric E; Arking, Dan E DE; Rotter, Jerome I JI; Rich, Stephen S SS; Whitsel, Eric A EA; Perez, Marco M; Kooperberg, Charles C; Fornwalt, Brandon K BK; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA; ,

Publication Date: 2021-08

Variant appearance in text: KCNH2: 2230C>T

PubMed Link: 34319147

Variant Present in the following documents:

• hcg-14-e003300-s001.pdf

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Loss-of-function variants in Kv 11.1 cardiac channels as a biomarker for SUDEP.

Annals Of Clinical And Translational Neurology

Soh, Ming S MS; Bagnall, Richard D RD; Bennett, Mark F MF; Bleakley, Lauren E LE; Mohamed Syazwan, Erlina S ES; Phillips, A Marie AM; Chiam, Mathew D F MDF; McKenzie, Chaseley E CE; Hildebrand, Michael M; Crompton, Douglas D; Bahlo, Melanie M; Semsarian, Christopher C; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Reid, Christopher A CA

Publication Date: 2021-07

Variant appearance in text: KCNH2: R744X

PubMed Link: 34002542

Variant Present in the following documents:

• Main text
• ACN3-8-1422.pdf

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First episode of ventricular fibrillation in an 84-year-old man with long-QT type 2 syndrome: A case report.

Journal Of Cardiology Cases

Miki, Tomonori T; Senoo, Keitaro K; Okura, Takashi T; Shiraishi, Hirokazu H; Shirayama, Takeshi T; Aiba, Takeshi T; Matoba, Satoaki S

Publication Date: 2020-12

Variant appearance in text: KCNH2: 2230C>T

PubMed Link: 33304416

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2230C>T; Arg744*

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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PHARMIP: An insilico method to predict genetics that underpin adverse drug reactions.

Methodsx

Zidan, Ahmad M AM; Saad, Eman A EA; Ibrahim, Nasser E NE; Mahmoud, Amal A; Hashem, Medhat H MH; Hemeida, Alaa A AA

Publication Date: 2020

Variant appearance in text: rs189014161

PubMed Link: 32123669

Variant Present in the following documents:

• Main text
• main.pdf

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Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.

Journal Of The American Heart Association

Chahal, C Anwar A CAA; Salloum, Mohammad N MN; Alahdab, Fares F; Gottwald, Joseph A JA; Tester, David J DJ; Anwer, Lucman A LA; So, Elson L EL; Murad, Mohammad Hassan MH; St Louis, Erik K EK; Ackerman, Michael J MJ; Somers, Virend K VK

Publication Date: 2020-01-07

Variant appearance in text: KCNH2: Arg744*

PubMed Link: 31865891

Variant Present in the following documents:

• JAH3-9-e012264.pdf
• JAH3-9-e012264-s001.pdf

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Rare Genetic Variants Associated With Sudden Cardiac Death in Adults.

Journal Of The American College Of Cardiology

Khera, Amit V AV; Mason-Suares, Heather H; Brockman, Deanna D; Wang, Minxian M; VanDenburgh, Martin J MJ; Senol-Cosar, Ozlem O; Patterson, Candace C; Newton-Cheh, Christopher C; Zekavat, Seyedeh M SM; Pester, Julie J; Chasman, Daniel I DI; Kabrhel, Christopher C; Jensen, Majken K MK; Manson, JoAnn E JE; Gaziano, J Michael JM; Taylor, Kent D KD; Sotoodehnia, Nona N; Post, Wendy S WS; Rich, Stephen S SS; Rotter, Jerome I JI; Lander, Eric S ES; Rehm, Heidi L HL; Ng, Kenney K; Philippakis, Anthony A; Lebo, Matthew M; Albert, Christine M CM; Kathiresan, Sekar S

Publication Date: 2019-11-26

Variant appearance in text: KCNH2: Arg744Ter

PubMed Link: 31727422

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNH2: 2230C>T; Arg744Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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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: R744X

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R744X

PubMed Link: 22338672

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of the congenital long-QT syndrome.

Circulation

Schwartz, Peter J PJ; Stramba-Badiale, Marco M; Crotti, Lia L; Pedrazzini, Matteo M; Besana, Alessandra A; Bosi, Giuliano G; Gabbarini, Fulvio F; Goulene, Karine K; Insolia, Roberto R; Mannarino, Savina S; Mosca, Fabio F; Nespoli, Luigi L; Rimini, Alessandro A; Rosati, Enrico E; Salice, Patrizia P; Spazzolini, Carla C

Publication Date: 2009-11-03

Variant appearance in text: KCNH2: R744X

PubMed Link: 19841298

Variant Present in the following documents:

• Main text

View BVdb publication page

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