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| Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel. Orphanet journal of rare diseases 2022 10 17 (1): 394. Chen Jia, Li Hong, Guo Sicheng, Yang Zhe, Sun Shaoping, Zeng JunJie, Gou Hongjuan, Chen Yechang, Wang Feng, Lin Yanping, Huang Kun, Yue Hong, Ma Yuting, Lin Yu |
Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.
Circulation. Genomic and precision medicine 2021 Jul . Choi Seung Hoan, Jurgens Sean J, Haggerty Christopher M, Hall Amelia W, Halford Jennifer L, Morrill Valerie N, Weng Lu-Chen, Lagerman Braxton, Mirshahi Tooraj, Pettinger Mary, Guo Xiuqing, Lin Henry J, Alonso Alvaro, Soliman Elsayed Z, Kornej Jelena, Lin Honghuang, Moscati Arden, Nadkarni Girish N, Brody Jennifer A, Wiggins Kerri L, Cade Brian E, Lee Jiwon, Austin-Tse Christina, Blackwell Tom, Chaffin Mark D, Lee Christina J-Y, Rehm Heidi L, Roselli Carolina, , Redline Susan, Mitchell Braxton D, Sotoodehnia Nona, Psaty Bruce M, Heckbert Susan R, Loos Ruth J F, Vasan Ramachandran S, Benjamin Emelia J, Correa Adolfo, Boerwinkle Eric, Arking Dan E, Rotter Jerome I, Rich Stephen S, Whitsel Eric A, Perez Marco, Kooperberg Charles, Fornwalt Brandon K, Lunetta Kathryn L, Ellinor Patrick T, Lubitz Steven A, |
| Functional hyperactivity in long QT syndrome type 1 pluripotent stem cell-derived sympathetic neurons. American journal of physiology. Heart and circulatory physiology 2021 6 321 (1): H217-H227. Winbo Annika, Ramanan Suganeya, Eugster Emily, Rydberg Annika, Jovinge Stefan, Skinner Jonathan R, Montgomery Johanna |
| Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes. PeerJ 2021 2 9 e10711. Guelly Christian, Abilova Zhannur, Nuralinov Omirbek, Panzitt Katrin, Akhmetova Ainur, Rakhimova Saule, Kozhamkulov Ulan, Kairov Ulykbek, Molkenov Askhat, Seisenova Ainur, Trajanoski Slave, Abildinova Rashbayeva Gulzhaina, Kaussova Galina, Windpassinger Christian, Lee Joseph H, Zhumadilov Zhaxybay, Bekbossynova Makhabbat, Akilzhanova Ain |
| 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 2020 9 23 (1): 47-58. Walsh Roddy, Lahrouchi Najim, Tadros Rafik, Kyndt Florence, Glinge Charlotte, Postema Pieter G, Amin Ahmad S, Nannenberg Eline A, Ware James S, Whiffin Nicola, Mazzarotto Francesco, Škori?-Milosavljevi? Doris, Krijger Christian, Arbelo Elena, Babuty Dominique, Barajas-Martinez Hector, Beckmann Britt M, Bézieau Stéphane, Bos J Martijn, Breckpot Jeroen, Campuzano Oscar, Castelletti Silvia, Celen Candan, Clauss Sebastian, Corveleyn Anniek, Crotti Lia, Dagradi Federica, de Asmundis Carlo, Denjoy Isabelle, Dittmann Sven, Ellinor Patrick T, Ortuño Cristina Gil, Giustetto Carla, Gourraud Jean-Baptiste, Hazeki Daisuke, Horie Minoru, Ishikawa Taisuke, Itoh Hideki, Kaneko Yoshiaki, Kanters Jørgen K, Kimoto Hiroki, Kotta Maria-Christina, Krapels Ingrid P C, Kurabayashi Masahiko, Lazarte Julieta, Leenhardt Antoine, Loeys Bart L, Lundin Catarina, Makiyama Takeru, Mansourati Jacques, Martins Raphaël P, Mazzanti Andrea, Mörner Stellan, Napolitano Carlo, Ohkubo Kimie, Papadakis Michael, Rudic Boris, Molina Maria Sabater, Sacher Frédéric, Sahin Hatice, Sarquella-Brugada Georgia, Sebastiano Regina, Sharma Sanjay, Sheppard Mary N, Shimamoto Keiko, Shoemaker M Benjamin, Stallmeyer Birgit, Steinfurt Johannes, Tanaka Yuji, Tester David J, Usuda Keisuke, van der Zwaag Paul A, Van Dooren Sonia, Van Laer Lut, Winbo Annika, Winkel Bo G, Yamagata Kenichiro, Zumhagen Sven, Volders Paul G A, Lubitz Steven A, Antzelevitch Charles, Platonov Pyotr G, Odening Katja E, Roden Dan M, Roberts Jason D, Skinner Jonathan R, Tfelt-Hansen Jacob, van den Berg Maarten P, Olesen Morten S, Lambiase Pier D, Borggrefe Martin, Hayashi Kenshi, Rydberg Annika, Nakajima Tadashi, Yoshinaga Masao, Saenen Johan B, Kääb Stefan, Brugada Pedro, Robyns Tomas, Giachino Daniela F, Ackerman Michael J, Brugada Ramon, Brugada Josep, Gimeno Juan R, Hasdemir Can, Guicheney Pascale, Priori Silvia G, Schulze-Bahr Eric, Makita Naomasa, Schwartz Peter J, Shimizu Wataru, Aiba Takeshi, Schott Jean-Jacques, Redon Richard, Ohno Seiko, Probst Vincent, , Behr Elijah R, Barc Julien, Bezzina Connie |
| NOS1AP polymorphisms reduce NOS1 activity and interact with prolonged repolarization in arrhythmogenesis. Cardiovascular research 2020 2 117 (2): 472-483. Ronchi Carlotta, Bernardi Joyce, Mura Manuela, Stefanello Manuela, Badone Beatrice, Rocchetti Marcella, Crotti Lia, Brink Paul, Schwartz Peter J, Gnecchi Massimiliano, Zaza Anton |
| Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population. Cardiology 2019 Nov 1-8. Wang Feng, Liu Yang, Liao Hongtao, Xue Yumei, Zhan Xianzhang, Fang Xianhong, Liang Yuanhong, Wei Wei, Rao Fang, Zhang Qianhuan, Deng Hai, Lin Yubi, Liu Fangzhou, Lin Weidong, Zhang Bin, Wu Shul |
| Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing. Annals of human genetics 2019 Nov . Li Xin, Liu Nian, Bai Ro |
| Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy. BMC cardiovascular disorders 2019 Jul 19 (1): 174. Raju Hariharan, Ware James S, Skinner Jonathan R, Hedley Paula L, Arno Gavin, Love Donald R, van der Werf Christian, Tfelt-Hansen Jacob, Winkel Bo Gregers, Cohen Marta C, Li Xinzhong, John Shibu, Sharma Sanjay, Jeffery Steve, Wilde Arthur A M, Christiansen Michael, Sheppard Mary N, Behr Elijah |
| Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use. Scientific reports 2018 May 8 (1): 8443. Nagasawa Sayaka, Saitoh Hisako, Kasahara Shiori, Chiba Fumiko, Torimitsu Suguru, Abe Hiroko, Yajima Daisuke, Iwase Hirota |
| Genotype and clinical characteristics of congenital long QT syndrome in Thailand. Indian pacing and electrophysiology journal 2018 7 18 (5): 165-171. Saprungruang Ankavipar, Khongphatthanayothin Apichai, Mauleekoonphairoj John, Wandee Pharawee, Kanjanauthai Supaluck, Bhuiyan Zahurul A, Wilde Arthur A M, Poovorawan Yo |
| Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia. Molecular genetics & genomic medicine 2017 9 5 (5): 592-601. Bdier Amnah Y, Al-Ghamdi Saleh, Verma Prashant K, Dagriri Khalid, Alshehri Bandar, Jiman Omamah A, Ahmed Sherif E, Wilde Arthur A M, Bhuiyan Zahurul A, Al-Aama Jumana |
| Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families. Journal of electrocardiology 2017 10 50 (6): 912-918. Zafari Zahra, Dalili Mohammad, Zeinali Sirus, Saber Siamak, Fazeli Far Amir Farjam, Akbari Mohammad Tag |
| Does Sudden Unexplained Nocturnal Death Syndrome Remain the Autopsy-Negative Disorder: A Gross, Microscopic, and Molecular Autopsy Investigation in Southern China. Mayo Clinic proceedings 2016 Oct . Zhang Liyong, Tester David J, Lang Di, Chen Yili, Zheng Jinxiang, Gao Rui, Corliss Robert F, Tang Shuangbo, Kyle John W, Liu Chao, Ackerman Michael J, Makielski Jonathan C, Cheng Jiandi |
| Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1? Circulation. Cardiovascular genetics 2016 Aug 9 (4): 330-9. Crotti Lia, Lahtinen Annukka M, Spazzolini Carla, Mastantuono Elisa, Monti Maria Cristina, Morassutto Caterina, Parati Gianfranco, Heradien Marshall, Goosen Althea, Lichtner Peter, Meitinger Thomas, Brink Paul A, Kontula Kimmo, Swan Heikki, Schwartz Peter |
| The role of known variants of KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP in water-related deaths. International journal of legal medicine 2016 Jul . Tzimas Iliana, Zingraf Jana-Christin, Bajanowski Thomas, Poetsch Micae |
| TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians. Cardiovascular research 2016 Jan . Ma Ji-Fang, Yang Fan, Mahida Saagar N, Zhao Ling, Chen Xiaomin, Zhang Michael L, Sun Zhijun, Yao Yan, Zhang Yi-Xin, Zheng Gu-Yan, Dong Jie, Feng Ming-Jun, Zhang Rui, Sun Jian, Li Shuo, Wang Qun-Shan, Cao Huiqing, Benjamin Emelia J, Ellinor Patrick T, Li Yi-Gang, Tian Xiao- |
| Third trimester fetal heart rate predicts phenotype and mutation burden in the type 1 long QT syndrome. Circulation. Arrhythmia and electrophysiology 2015 Aug 8 (4): 806-14. Winbo Annika, Fosdal Inger, Lindh Maria, Diamant Ulla-Britt, Persson Johan, Wettrell Göran, Rydberg Anni |
| Genetic variants of potassium voltage-gated channel genes (KCNQ1, KCNH2, and KCNE1) affected the risk of atrial fibrillation in elderly patients. Genetic testing and molecular biomarkers 2015 Jul 19 (7): 359-65. Li Li, Shen Chao, Yao Zhaohui, Liang Jinjun, Huang Congx |
| Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1. Journal of the American College of Cardiology 2015 Feb 65 (4): 367-74. Porta Alberto, Girardengo Giulia, Bari Vlasta, George Alfred L, Brink Paul A, Goosen Althea, Crotti Lia, Schwartz Peter |
| AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. Circulation. Cardiovascular genetics 2014 Oct 7 (5): 599-606. de Villiers Carin P, van der Merwe Lize, Crotti Lia, Goosen Althea, George Alfred L, Schwartz Peter J, Brink Paul A, Moolman-Smook Johanna C, Corfield Valerie |
| Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. Journal of the American College of Cardiology 2014 Apr 63 (14): 1430-7. Weeke Peter, Mosley Jonathan D, Hanna David, Delaney Jessica T, Shaffer Christian, Wells Quinn S, Van Driest Sara, Karnes Jason H, Ingram Christie, Guo Yan, Shyr Yu, Norris Kris, Kannankeril Prince J, Ramirez Andrea H, Smith Joshua D, Mardis Elaine R, Nickerson Deborah, George Alfred L, Roden Dan |
| Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart rhythm : the official journal of the Heart Rhythm Society 2014 Feb 11 (2): 246-51. Olesen Morten S, Andreasen Laura, Jabbari Javad, Refsgaard Lena, Haunsø Stig, Olesen Søren-Peter, Nielsen Jonas B, Schmitt Nicole, Svendsen Jesper |
| Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome. Heart rhythm : the official journal of the Heart Rhythm Society 2014 Jan 11 (1): 76-82. Earle Nikki, Yeo Han Dug, Pilbrow Anna, Crawford Jackie, Smith Warren, Shelling Andrew N, Cameron Vicky, Love Donald R, Skinner Jonathan |
| Single nucleotide polymorphisms in proximity to K-channel genes are associated with decreased longitudinal QTc variance. Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2014 Jan 19 (1): 63-9. Mints Yuliya, Zipunnikov Vadim, Khurram Irfan, Calkins Hugh, Nazarian Sam |
| Impact of ancestry and common genetic variants on QT interval in African Americans.
Circulation. Cardiovascular genetics 2012 Dec 5 (6): 647-55. Smith J Gustav, Avery Christy L, Evans Daniel S, Nalls Michael A, Meng Yan A, Smith Erin N, Palmer Cameron, Tanaka Toshiko, Mehra Reena, Butler Anne M, Young Taylor, Buxbaum Sarah G, Kerr Kathleen F, Berenson Gerald S, Schnabel Renate B, Li Guo, Ellinor Patrick T, Magnani Jared W, Chen Wei, Bis Joshua C, Curb J David, Hsueh Wen-Chi, Rotter Jerome I, Liu Yongmei, Newman Anne B, Limacher Marian C, North Kari E, Reiner Alexander P, Quibrera P Miguel, Schork Nicholas J, Singleton Andrew B, Psaty Bruce M, Soliman Elsayed Z, Solomon Allen J, Srinivasan Sathanur R, Alonso Alvaro, Wallace Robert, Redline Susan, Zhang Zhu-Ming, Post Wendy S, Zonderman Alan B, Taylor Herman A, Murray Sarah S, Ferrucci Luigi, Arking Dan E, Evans Michele K, Fox Ervin R, Sotoodehnia Nona, Heckbert Susan R, Whitsel Eric A, Newton-Cheh Christopher, |
| Torsades de pointes during complete atrioventricular block: Genetic factors and electrocardiogram correlates. The Canadian journal of cardiology 2010 Apr 26 (4): 208-12. Subbiah Rajesh N, Gollob Michael H, Gula Lorne J, Davies Robert W, Leong-Sit Peter, Skanes Allan C, Yee Raymond, Klein George J, Krahn Andrew |
| Cardiac ion channel gene mutations in Greek long QT syndrome patients. Journal of applied genetics 2010 51 (4): 515-8. Kotta C-M, Anastasakis A, Gatzoulis K, Papagiannis J, Geleris P, Stefanadis |
| Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance. Journal of the American College of Cardiology 2010 12 57 (1): 40-7. Barc Julien, Briec François, Schmitt Sébastien, Kyndt Florence, Le Cunff Martine, Baron Estelle, Vieyres Claude, Sacher Frédéric, Redon Richard, Le Caignec Cédric, Le Marec Hervé, Probst Vincent, Schott Jean-Jacqu |
| D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. Journal of the American College of Cardiology 2009 Aug 54 (9): 812-9. Nishio Yukiko, Makiyama Takeru, Itoh Hideki, Sakaguchi Tomoko, Ohno Seiko, Gong Yin-Zhi, Yamamoto Satoshi, Ozawa Tomoya, Ding Wei-Guang, Toyoda Futoshi, Kawamura Mihoko, Akao Masaharu, Matsuura Hiroshi, Kimura Takeshi, Kita Toru, Horie Mino |
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- Page last updated:Mar 31, 2023
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