Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Long Qt Syndrome 6[original query] |
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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 |
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 |
Detection of distant relatedness in biobanks to identify undiagnosed cases of Mendelian disease as applied to Long QT syndrome. Nature communications 2024 8 15 (1): 7507. Megan C Lancaster, Hung-Hsin Chen, M Benjamin Shoemaker, Matthew R Fleming, Teresa L Strickland, James T Baker, Grahame F Evans, Hannah G Polikowsky, David C Samuels, Chad D Huff, Dan M Roden, Jennifer E Bel |
Multimodal fusion learning for long QT syndrome pathogenic genotypes in a racially diverse population. NPJ digital medicine 2024 8 7 (1): 226. Joy Jiang, Ha My Thi Vy, Alexander Charney, Patricia Kovatch, Vivek Reddy, Pushkala Jayaraman, Ron Do, Rohan Khera, Sumeet Chugh, Deepak L Bhatt, Akhil Vaid, Joshua Lampert, Girish Nitin Nadkar |
Systematic analysis of SCN5A variants associated with inherited cardiac diseases. Heart rhythm 2024 8 . Alexis Hermida, Guillaume Jedraszak, Flavie Ader, Isabelle Denjoy, Véronique Fressart, Phillipe Maury, Christophe Beyls, Adrien Bloch, Gaël Clerici, Elise Daire, Pascal Defaye, Delphine Dupin-Deguine, Loic Garçon, Didier Klug, Emmanuelle Ginglinger, Jean-Sylvain Hermida, Laurence Jesel, Diala Khraiche, Maciej Kubala, Jérôme Lacotte, Mikael Laredo, Antoine Leenhardt, Xavier Le Guillou, Francois Lesaffre, Alice Maltret, Isabelle Magnin-Poull, Eloi Marijon, Sophie Nambot, Nathalie Neyroud, Sandro Ninni, Aurélien Palmyre, Jean Luc Pasquie, Julie Proukhnitzky, Patricia Reant, Pascale Richard, Anne Rollin, Caroline Rooryck, Frédéric Sacher, Elise Schaefer, Agathe Vernier, Pierre-François Winum, Karim Wahbi, Xavier Waintraub, Victor Waldmann, Sacha Weber, Amir Zouaghi, Philippe Charron, Fabrice Extramiana, Estelle Gandjbakh |
Clinical presentation and genetic characterization of early-onset atrial fibrillation in patients affected by long QT syndrome: A single-center experience. Journal of cardiovascular electrophysiology 2024 7 . Berardo Sarubbi, Giovanni Domenico Ciriello, Ferdinando Barretta, Davide Sorice, Antonio Orlando, Anna Correra, Diego Colonna, Fabiana Uomo, Cristina Mazzaccara, Valeria D'Argenio, Emanuele Romeo, Giulia Fris |
High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features. Circulation. Genomic and precision medicine 2024 7 e004554. Abdulkarim Abdulrahman, Brianna Davies, Habib Khan, Shubhayan Sanatani, Rafik Tadros, Mario Talajic, Julia Cadrin-Tourigny, Joseph Atallah, David Lee, Martin Gardner, Christian Steinberg, Simon Hansom, Martin Green, Anne Fournier, Laura Arbour, Richard Leather, Shane Kimber, Jason Roberts, Jeffrey Healey, Paul Angaran, Christopher Simpson, Colette Seifer, Erkan Ilhan, Jacqueline Joza, Andrew Krahn, Zachary Laksm |
Vigorous Exercise in Patients With Congenital Long-QT Syndrome: Results of the Prospective, Observational, Multinational LIVE-LQTS Study. Circulation 2024 7 . Rachel Lampert, Sharlene Day, Barbara Ainsworth, Matthew Burg, Bradley S Marino, Lisa Salberg, Maria Teresa Tome Esteban, Dominic J Abrams, Peter F Aziz, Cheryl Barth, Elijah R Behr, Cheyanne Bell, Charles I Berul, Johan M Bos, David Bradley, David S Cannom, Bryan C Cannon, Maryann Anandi Concannon, Marina Cerrone, Richard J Czosek, Anne M Dubin, James Dziura, Christopher C Erickson, N A Mark Estes, Susan P Etheridge, Ilan Goldenberg, Belinda Gray, Carla Haglund-Turnquist, Kimberly Harmon, Cynthia A James, Christopher Johnsrude, Prince Kannankeril, Alice Lara, Ian H Law, Fangyong Li, Mark S Link, Silvana M Molossi, Brian Olshansky, Peter A Noseworthy, Elizabeth V Saarel, Shubhayan Sanatani, Maully Shah, Laura Simone, Jonathan Skinner, Gordon F Tomaselli, James Simon Ware, Gregory Webster, Wojciech Zareba, Douglas P Zipes, Michael J Ackerm |
Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India. Indian heart journal 2024 7 . Priya Chockalingam, Thenral S Geetha, Sandhya Nair, Nivedita Rajakumar, Deep Chandh Raja, Yash Lokhandwala, Vivek Chaturvedi, Raja J Selvaraj, Sakthivel Ramasamy, Sheetal Sharda, C Sundar, R Anantharam |
Requirement of ? subunit for the reduced voltage-gated Na current of a Brugada syndrome patient having novel double missense mutation (p.A385T/R504T) of SCN5A. The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology 2024 6 28 (4): 313-322. Na Kyeong Park, Seong Woo Choi, Soon-Jung Park, JooHan Woo, Hyun Jong Kim, Woo Kyung Kim, Sung-Hwan Moon, Hun-Jun Park, Sung Joon K |
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing. Journal of human genetics 2024 6 . Vigneshwar Senthivel, Bani Jolly, Arvinden Vr, Anjali Bajaj, Rahul Bhoyar, Mohamed Imran, Harie Vignesh, Mohit Kumar Divakar, Gautam Sharma, Nitin Rai, Kapil Kumar, Jayakrishnan Mp, Maniram Krishna, Jeyaprakash Shenthar, Muzaffar Ali, Shaad Abqari, Gulnaz Nadri, Vinod Scaria, Nitish Naik, Sridhar Sivasub |
Wearable electrocardiogram devices in patients with congenital long QT syndrome: The SMART-QT study. Archives of cardiovascular diseases 2024 5 . Antoine Delinière, Francis Bessière, Leslie Placide, Jean-Luc Pasquié, Christelle Haddad, Solenn Tirel, Hajira Mokhtar, Elodie Morel, Kevin Gardey, Arnaud Dulac, Geoffroy Ditac, Frédéric Sacher, Isabelle Denjoy, Philippe Chevali |
Frequency and Genotype-Dependence of intrinsic chronotropic insufficiency among patients with congenital long QT syndrome. Journal of cardiovascular electrophysiology 2024 10 . Veda K Kulkarni, Alexa M Pinsky, J Martijn Bos, Raquel Neves, Sahej Bains, John R Giudicessi, Thomas G Allison, Michael J Ackerm |
Clinical Features, Long-Term Prognosis, and Clinical Management of Genotype-Negative Long QT Syndrome Patients. JACC. Clinical electrophysiology 2024 10 . Keiko Shimamoto, Federica Dagradi, Seiko Ohno, Carla Spazzolini, Lia Crotti, Fulvio L F Giovenzana, Giulia Musu, Matteo Pedrazzini, Kengo Kusano, Misa Takegami, Kunihiro Nishimura, Minoru Horie, Takeshi Aiba, Peter J Schwar |
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
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