Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 298 Records) |
Query Trace: Long Qt Syndrome 3[original query] |
---|
Prevalence and Phenotypic Burden of Monogenic Arrhythmias Using Integration of Electronic Health Records With Genetics. Circulation. Genomic and precision medicine 2022 9 15 (5): e003675. Nafissi Navid A, Abdulrahim Jawan W, Kwee Lydia Coulter, Coniglio Amanda C, Kraus William E, Piccini Jonathan P, Daubert James P, Sun Albert Y, Shah Svati |
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nature communications 2022 8 13 (1): 5106. Halford Jennifer L, Morrill Valerie N, Choi Seung Hoan, Jurgens Sean J, Melloni Giorgio, Marston Nicholas A, Weng Lu-Chen, Nauffal Victor, Hall Amelia W, Gunn Sophia, Austin-Tse Christina A, Pirruccello James P, Khurshid Shaan, Rehm Heidi L, Benjamin Emelia J, Boerwinkle Eric, Brody Jennifer A, Correa Adolfo, Fornwalt Brandon K, Gupta Namrata, Haggerty Christopher M, Harris Stephanie, Heckbert Susan R, Hong Charles C, Kooperberg Charles, Lin Henry J, Loos Ruth J F, Mitchell Braxton D, Morrison Alanna C, Post Wendy, Psaty Bruce M, Redline Susan, Rice Kenneth M, Rich Stephen S, Rotter Jerome I, Schnatz Peter F, Soliman Elsayed Z, Sotoodehnia Nona, Wong Eugene K, , Sabatine Marc S, Ruff Christian T, Lunetta Kathryn L, Ellinor Patrick T, Lubitz Steven |
Genotype-Specific ECG-Based Risk Stratification Approaches in Patients With Long-QT Syndrome. Frontiers in cardiovascular medicine 2022 8 9 916036. Rieder Marina, Kreifels Paul, Stuplich Judith, Ziupa David, Servatius Helge, Nicolai Luisa, Castiglione Alessandro, Zweier Christiane, Asatryan Babken, Odening Katja |
Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents. Journal of pediatric hematology/oncology 2022 5 . Wagener Rabea, Walter Carolin, Surowy Harald M, Brandes Danielle, Soura Stavrieta, Alzoubi Deya, Yasin Layal, Fischer Ute, Dugas Martin, Borkhardt Arndt, Brozou Triantafyll |
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 |
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome. Circulation. Genomic and precision medicine 2022 Feb 15 (1): e003391. Gray Belinda, Baruteau Alban-Elouen, Antolin Albert A, Pittman Alan, Sarganas Giselle, Molokhia Mariam, Blom Marieke T, Bastiaenen Rachel, Bardai Abdenasser, Priori Silvia G, Napolitano Carlo, Weeke Peter E, Shakir Saad A, Haverkamp Wilhelm, Mestres Jordi, Winkel Bo, Witney Adam A, Chis-Ster Irina, Sangaralingam Ajanthah, Camm A John, Tfelt-Hansen Jacob, Roden Dan M, Tan Hanno L, Garbe Edeltraut, Sturkenboom Miriam, Behr Elijah |
Use of hiPSC-Derived Cardiomyocytes to Rule Out Proarrhythmic Effects of Drugs: The Case of Hydroxychloroquine in COVID-19. Frontiers in physiology 2022 2 12 730127. Sala Luca, Leonov Vladislav, Mura Manuela, Giannetti Federica, Khudiakov Aleksandr, Moretti Alessandra, Crotti Lia, Gnecchi Massimiliano, Schwartz Peter |
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 |
Targeted deep sequencing analyses of long QT syndrome in a Japanese population. PloS one 2022 12 17 (12): e0277242. Nagata Yuki, Watanabe Ryo, Eichhorn Christian, Ohno Seiko, Aiba Takeshi, Ishikawa Taisuke, Nakano Yukiko, Aizawa Yoshiyasu, Hayashi Kenshi, Murakoshi Nobuyuki, Nakajima Tadashi, Yagihara Nobue, Mishima Hiroyuki, Sudo Takeaki, Higuchi Chihiro, Takahashi Atsushi, Sekine Akihiro, Makiyama Takeru, Tanaka Yoshihiro, Watanabe Atsuyuki, Tachibana Motomi, Morita Hiroshi, Yoshiura Koh-Ichiro, Tsunoda Tatsuhiko, Watanabe Hiroshi, Kurabayashi Masahiko, Nogami Akihiko, Kihara Yasuki, Horie Minoru, Shimizu Wataru, Makita Naomasa, Tanaka Toshihi |
Genetic Biomarkers of Antipsychotic-Induced Prolongation of the QT Interval in Patients with Schizophrenia. International journal of molecular sciences 2022 12 23 (24): . Vaiman Elena E, Shnayder Natalia A, Zhuravlev Nikita M, Petrova Marina M, Asadullin Azat R, Al-Zamil Mustafa, Garganeeva Natalia P, Shipulin German A, Cumming Paul, Nasyrova Regina |
Role of genetic testing in young patients with idiopathic atrioventricular conduction disease. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2022 11 25 (2): 643-650. Auricchio Angelo, Demarchi Andrea, Özkartal Tardu, Campanale Daniela, Caputo Maria Luce, di Valentino Marcello, Menafoglio Andrea, Regoli Francois, Facchini Marco, Del Bufalo Alessandro, Foglia Pietro, Ferrari Nicola, Bomio Fulvio, Medeiros-Domingo Argelia, Moccetti Tiziano, Pedrazzini Giovanni B, Klersy Catherine, Conte Giul |
Genetic variants in Colombian patients with inherited cardiac conditions. Molecular genetics & genomic medicine 2022 10 10 (11): e2046. Rucinski Cynthia, Yunis Luz Karime, Rosas Fernando, Santacruz David, Camargo Juan Manuel, Yunis Juan Jo |
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 |
Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias. Circulation 2022 1 145 (4): 299-308. Wada Yuko, Yang Tao, Shaffer Christian M, Daniel Laura L, Glazer Andrew M, Davogustto Giovanni E, Lowery Brandon D, Farber-Eger Eric H, Wells Quinn S, Roden Dan |
The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2. Frontiers in physiology 2022 1 12 755642. van den Brink Lettine, Brandão Karina O, Yiangou Loukia, Blanch-Asensio Albert, Mol Mervyn P H, Mummery Christine L, Verkerk Arie O, Davis Richard |
Left cardiac sympathetic denervation in children with Jervell Lange-Nielsen syndrome and drug refractory torsades - A case series. Pacing and clinical electrophysiology : PACE 2023 9 . Deepanjan Bhattacharya, Narayanan Namboodiri, Madhusoodanan Pillai Sreelekshmi, Mukund A Prabhu, Abhilash Sreevilasam Pushpangadhan, Sabarinath Menon, Baiju S Dharan, Ajitkumar Valaparamb |
Clinical and Genetic Features of Korean Inherited Arrhythmia Probands. Korean circulation journal 2023 9 . Joo Hee Jeong, Suk-Kyu Oh, Yun Gi Kim, Yun Young Choi, Hyoung Seok Lee, Jaemin Shim, Yae Min Park, Jun-Hyung Kim, Yong-Seog Oh, Nam-Ho Kim, Hui-Nam Pak, Young Keun On, Hyung Wook Park, Gyo-Seung Hwang, Dae-Kyeong Kim, Young-Ah Park, Hyoung-Seob Park, Yongkeun Cho, Seil Oh, Jong-Il Choi, Young-Hoon K |
Genetic variant annotation scores in congenital long QT syndrome. Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2023 8 e13080. Arwa Younis, Christopher Bodurian, Dan E Arking, Nicola Luigi Bragazzi, Chadi Tabaja, Wojciech Zareba, Scott McNitt, Mehmet K Aktas, Bronislava Polonsky, Coeli M Lopes, Nona Sotoodehnia, Peter J Kudenchuk, Ilan Goldenbe |
The role of genetic testing in the prevention, diagnosis, and prognosis of sudden cardiac arrest in children. Journal of arrhythmia 2023 8 39 (4): 607-612. Miry Blich, Hodaya Oron, Wisam Darawsha, Mahmoud Suleiman, Lior Gepstein, Monther Boulos, Avraham Lorber, Asaad Kchou |
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland. Journal of the American Heart Association 2023 7 12 (14): e029845. Gardar Sveinbjornsson, Bara D Benediktsdottir, Gunnlaugur Sigfusson, Kristjan Norland, Olafur B Davidsson, Rosa B Thorolfsdottir, Vinicius Tragante, Gudny A Arnadottir, Brynjar O Jensson, Hildigunnur Katrinardottir, Run Fridriksdottir, Hallbera Gudmundsdottir, Hildur M Aegisdottir, Brynjar Fridriksson, Gudmundur Thorgeirsson, Vidar Magnusson, Asmundur Oddsson, Patrick Sulem, Daniel F Gudbjartsson, Hilma Holm, David O Arnar, Kari Stefanss |
Association Between Syncope Trigger Type and Risk of Subsequent Life-Threatening Events in Patients With Long QT Syndrome. JAMA cardiology 2023 7 . Arwa Younis, J Martijn Bos, Wojciech Zareba, Mehmet K Aktas, Arthur A M Wilde, Chadi Tabaja, Christopher Bodurian, Kathryn E Tobert, Scott McNitt, Bronislava Polonsky, Wataru Shimizu, Michael J Ackerman, Ilan Goldenbe |
Circumstance-dependent functional variants in the major long QT syndrome genes in patients with recurrent polymorphic ventricular arrhythmias: A case series. HeartRhythm case reports 2023 6 9 (5): 324-327. Bram M A van Bakel, Thijs P Kerstens, Ieva Arts, Reinder Evertz, Rypko Beukema, Mohamed Boulaks |
Individualized QT interval (QTi) is a powerful diagnostic tool in long QT syndrome: results from a large validation study. Frontiers in cardiovascular medicine 2023 5 10 1097468. Tomas Robyns, Dieter Nuyens, Bert Vandenberk, Peter Haemers, Jeroen Breckpot, Christophe Garweg, Joris Ector, Rik Wille |
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome. medRxiv : the preprint server for health sciences 2023 5 . Megan C Lancaster, Hung-Hsin Chen, M Benjamin Shoemaker, Matthew R Fleming, James T Baker, Hannah G Polikowsky, David C Samuels, Chad D Huff, Dan M Roden, Jennifer E Bel |
Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene. Circulation. Genomic and precision medicine 2023 4 16 (2): e003726. Wei Zhou, Dan Ye, David J Tester, Sahej Bains, John R Giudicessi, Carla M Haglund-Turnquist, Kate M Orland, Craig T January, Lee L Eckhardt, Kathleen R Maginot, Michael J Ackerm |
Standing genetic variation affects phenotypic heterogeneity in an SCN5A-mutation founder population with excess sudden cardiac death. Heart rhythm 2023 2 . Isaacs Aaron, Barysenka Andrei, Ter Bekke Rachel M A, Helderman-van den Enden Apollonia T J M, van den Wijngaard Arthur, Volders Paul G A, Stoll Moni |
Whole exome sequencing with a focus on cardiac disease-associated genes in families of sudden unexplained deaths in Yunnan, southwest of China. BMC genomics 2023 2 24 (1): 57. Wei Si-Jie, Du Jin-Liang, Wang Yue-Bing, Qu Peng-Fei, Ma Lin, Sun Zhong-Chun, Tang Xue, Liu Kai, Xi Yan-Mei, Nie Sheng-Jie, Jia Peng-Lin, Long Wu, Qu Yong-Qiang, Li Yu-Hua, Lei Pu-Pi |
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome. Research square 2023 10 . Jennifer Below, Megan Lancaster, Hung-Hsin Chen, M Benjamin Shoemaker, Matthew Fleming, James Baker, Grahame Evans, Hannah Polikowsky, David Samuels, Chad Huff, Dan Rod |
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families. Molecular syndromology 2023 10 14 (5): 363-374. Elcin Bora, Ayca Y?ld?z Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan, Ebru Ozpelit, Ayfer Ulgenalp, Ahmet Okay Caglay |
KCNQ1 p.D446E Variant as a Risk Allele for Arrhythmogenic Phenotypes: Electrophysiological Characterization Reveals a Complex Phenotype Affecting the Slow Delayed Rectifier Potassium Current (IKs) Voltage Dependence by Causing a Hyperpolarizing Shift and a Lack of Response to Protein Kinase A Activation. International journal of molecular sciences 2024 1 25 (2): . Antonia González-Garrido, Omar López-Ramírez, Abel Cerda-Mireles, Thania Navarrete-Miranda, Aranza Iztanami Flores-Arenas, Arturo Rojo-Domínguez, Leticia Arregui, Pedro Iturralde, Erika Antúnez-Argüelles, Mayra Domínguez-Pérez, Leonor Jacobo-Albavera, Alessandra Carnevale, Teresa Villarreal-Moli |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
- Content source: