HuGE Literature Finder
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Analysis of CACNA1C and KCNH2 Risk Variants on Cardiac Autonomic Function in Patients with Schizophrenia. Genes 2022 11 13 (11): . Refisch Alexander, Komatsuzaki Shoko, Ungelenk Martin, Schumann Andy, Chung Ha-Yeun, Schilling Susann S, Jantzen Wibke, Schröder Sabine, Nöthen Markus M, Mühleisen Thomas W, Hübner Christian A, Bär Karl-Jürg |
Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population. Journal of cardiovascular development and disease 2022 11 9 (11): . Wang Lin-Lin, Chen Yang-Hui, Sun Yang, Huang Man, Wei Hao-Ran, Liu Hao, Xu Ke, Song Xiu-Li, Chen Peng, Tan Lun, Huang Jin, Li Zong-Zhe, Li Rui, Yu Ting, Ma Fei, Ding Hu, Wang Yan, Wang Dao-Wen, Wang Hong, Zhao Chun-X |
Genome sequencing in a genetically elusive multigenerational long QT syndrome pedigree identifies a novel LQT2-causative deeply intronic KCNH2 variant. Heart rhythm 2022 2 19 (6): 998-1007. Tobert Kathryn E, Tester David J, Zhou Wei, Haglund-Turnquist Carla M, Giudicessi John R, Ackerman Michael |
KCNH2 p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort. Life (Basel, Switzerland) 2022 4 12 (4): . Lorca Rebeca, Junco-Vicente Alejandro, Pérez-Pérez Alicia, Pascual Isaac, Persia-Paulino Yvan Rafael, González-Urbistondo Francisco, Cuesta-Llavona Elías, Fernández-Barrio Bárbara C, Morís César, Rubín José Manuel, Coto Eliecer, Gómez Juan, Reguero José Julián Rodrígu |
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, |
Mutational spectrum of congenital long QT syndrome in Turkey; identification of 12 novel mutations across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, and CALM1. Journal of cardiovascular electrophysiology 2021 12 33 (2): 262-273. Akgun-Dogan Ozlem, A?ao?lu Nihat B, K Demirkol Yasemin, Do?anay Levent, Ergül Yakup, Karacan Mehm |
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death. Genetics in medicine : official journal of the American College of Medical Genetics 2020 9 23 (1): 86-93. Singer Emma S, Ross Samantha B, Skinner Jon R, Weintraub Robert G, Ingles Jodie, Semsarian Christopher, Bagnall Richard |
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 |
Corrected QT Interval Prolongation in Psychopharmacological Treatment and Its Modulation by Genetic Variation. Neuropsychobiology 2019 77 (2): 67-72. Corponi Filippo, Fabbri Chiara, Boriani Giuseppe, Diemberger Igor, Albani Diego, Forloni Gianluigi, Serretti Alessand |
Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study. American journal of obstetrics and gynecology 2019 9 222 (3): 263.e1-263.e11. Cuneo Bettina F, Kaizer Alexander M, Clur Sally Ann, Swan Heikki, Herberg Ulrike, Winbo Annika, Rydberg Annika, Haugaa Kristina, Etheridge Susan, Ackerman Michael J, Dagradi Federica, Killen Stacy A S, Wacker-Gussmann Annette, Benson D Woodrow, Wilde A A M, Pan Zhaoxing, Lam Aimee, Spazzolini Carla, Horigome Hitoshi, Schwartz Peter J, |
Quantitative T-wave morphology assessment from surface ECG is linked with cardiac events risk in genotype-positive KCNH2 mutation carriers with normal QTc values. Journal of cardiovascular electrophysiology 2019 10 30 (12): 2907-2913. Cortez Daniel, Zareba Wojciech, McNitt Scott, Polonsky Bronislava, Rosero Spencer Z, Platonov Pyotr |
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. Journal of clinical medicine 2019 7 8 (7): . Campuzano Oscar, Fernandez-Falgueras Anna, Lemus Ximena, Sarquella-Brugada Georgia, Cesar Sergi, Coll Monica, Mates Jesus, Arbelo Elena, Jordà Paloma, Perez-Serra Alexandra, Del Olmo Bernat, Ferrer-Costa Carles, Iglesias Anna, Fiol Victoria, Puigmulé Marta, Lopez Laura, Pico Ferran, Brugada Josep, Brugada Ram |
QT length during methadone maintenance treatment: gene × dose interaction. Fundamental & clinical pharmacology 2018 Aug . Zerdazi El-Hadi, Vorspan Florence, Marees Andries T, Naccache François, Lepine Jean-Pierre, Laplanche Jean-Louis, Prince Nathalie, Marie-Claire Cynthia, Bellivier Frank, Mouly Stéphane, Bloch Vanes |
Risk Stratification of Type 2 Long-QT Syndrome Mutation Carriers With Normal QTc Interval: The Value of Sex, T-Wave Morphology, and Mutation Type. Circulation. Arrhythmia and electrophysiology 2018 Jul 11 (7): e005918. Platonov Pyotr G, McNitt Scott, Polonsky Bronislava, Rosero Spencer Z, Kutyifa Valentina, Huang Allison, Moss Arthur J, Zareba Wojcie |
Postmortem Analysis of 4 Mutation Hotspots of KCNQ1, KCNH2, and SCN5A Genes in Sudden Unexplained Death in Southwest of China. The American journal of forensic medicine and pathology 2018 May . Jia Peng-Lin, Wang Yue-Bing, Fu Hua, Huang Wen-Li, Zhong Shu-Rong, Ma Lin, Li Yu-Hua, Dong Yi, Sun Zhong-Chun, Yang Lin, Qu Peng-Fei, Zhao Su, Qu Yong-Qiang, Xi Yan-Mei, Wang Shang-Wen, Tang Xue, Lei Pu-Pi |
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 |
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome. Journal of the American College of Cardiology 2018 Mar 71 (11): 1217-1227. Tester David J, Wong Leonie C H, Chanana Pritha, Jaye Amie, Evans Jared M, FitzPatrick David R, Evans Margaret J, Fleming Peter, Jeffrey Iona, Cohen Marta C, Tfelt-Hansen Jacob, Simpson Michael A, Behr Elijah R, Ackerman Michael |
Detection of Variants in Patients with Idiopathic Ventricular Fibrillation by Whole-exome Sequencing. Annals of clinical and laboratory science 2018 8 48 (4): 427-434. Chang Ya-Sian, Lee Chien-Chin, Huang Hsi-Yuan, Lin Kuo-Hung, Chen Jan-Yow, Chang Kuan-Cheng, Chang Jan-Gow |
Genetic variants in post myocardial infarction patients presenting with electrical storm of unstable ventricular tachycardia. Indian pacing and electrophysiology journal 2018 2 18 (3): 91-94. Rangaraju Advithi, Krishnan Shuba, Aparna G, Sankaran Satish, Mannan Ashraf U, Rao B Hygr |
Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families. Journal of applied genetics 2018 9 59 (4): 463-469. Szperl Ma?gorzata, Kozicka Urszula, Kosiec Agnieszka, Kukla Piotr, Roszczynko Marta, Biernacka El?bieta Katarzy |
Ethnic Differences in Genetic Ion Channelopathies Associated with Sudden Cardiac Death: A Systematic Review and Meta-Analysis. Annals of clinical and laboratory science 2017 Aug 47 (4): 481-490. Kong Tim, Feulefack Joseph, Ruether Kim, Shen Fan, Zheng Wang, Chen Xing-Zhen, Sergi Consola |
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 |
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 |
Post-mortem whole-exome sequencing (WES) with a focus on cardiac disease-associated genes in five young sudden unexplained death (SUD) cases. International journal of legal medicine 2016 Feb . Neubauer Jacqueline, Haas Cordula, Bartsch Christine, Domingo-Medeiros Argelia, Berger Wolfga |
[High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis]. Zhonghua xin xue guan bing za zhi 2015 Dec 43 (12): 1046-50. Zhou Hui, Li Zhang, Ali Raza Ghani, Zhu Wengen, Zhou Qiongqiong, Shen Yang, Xie Jinyan, Cao Qing, Wan Rong, Hu Jinzhu, Hong K |
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. Annals of neurology 2015 Dec . Bagnall Richard D, Crompton Douglas E, Petrovski Slavé, Lam Lien, Cutmore Carina, Garry Sarah I, Sadleir Lynette G, Dibbens Leanne M, Cairns Anita, Kivity Sara, Afawi Zaid, Regan Brigid M, Duflou Johan, Berkovic Samuel F, Scheffer Ingrid E, Semsarian Christoph |
Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases. European journal of human genetics : EJHG 2015 Sep . Hertz Christin Loeth, Christiansen Sofie Lindgren, Larsen Maiken Kudahl, Dahl Morten, Ferrero-Miliani Laura, Weeke Peter Ejvind, Pedersen Oluf, Hansen Torben, Grarup Niels, Ottesen Gyda Lolk, Frank-Hansen Rune, Banner Jytte, Morling Nie |
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. PloS one 2015 10 (7): e0133037. Allegue Catarina, Coll Mònica, Mates Jesus, Campuzano Oscar, Iglesias Anna, Sobrino Beatriz, Brion Maria, Amigo Jorge, Carracedo Angel, Brugada Pedro, Brugada Josep, Brugada Ram |
Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients. International heart journal 2015 56 (4): 450-3. Chang Ya-Sian, Yang Yi-Wen, Lin Yen-Nien, Lin Kuo-Hung, Chang Kuan-Cheng, Chang Jan-Gow |
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- Page last updated:Mar 22, 2023
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