Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 296 Records) |
| Query Trace: Sudden death[original query] |
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| Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China. Molecular genetics & genomic medicine 2021 9 9 (10): e1800. Li Jinjie, Yang Liu, Diao Yanjun, Zhou Lei, Xin Yijuan, Jiang Liqing, Li Rui, Wang Juan, Duan Weixun, Liu Jiay |
| Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome. Circulation. Genomic and precision medicine 2021 12 15 (1): e003589. Ormerod Julian O M, Ormondroyd Elizabeth, Li Yanhui, Taylor John, Wei Jinhong, Guo Wenting, Wang Ruiwu, Sarton Caroline N S, McGuire Karen, Dreau Helene M P, Taylor Jenny C, Ginks Matthew R, Rajappan Kim, Chen S R Wayne, Watkins Hu |
| De novo mutations in childhood cases of sudden unexplained death that disrupt intracellular Ca regulation. Proceedings of the National Academy of Sciences of the United States of America 2021 12 118 (52): . Halvorsen Matthew, Gould Laura, Wang Xiaohan, Grant Gariel, Moya Raquel, Rabin Rachel, Ackerman Michael J, Tester David J, Lin Peter T, Pappas John G, Maurano Matthew T, Goldstein David B, Tsien Richard W, Devinsky Orr |
Deep learning enables genetic analysis of the human thoracic aorta.
Nature genetics 2021 11 54 (1): 40-51. Pirruccello James P, Chaffin Mark D, Chou Elizabeth L, Fleming Stephen J, Lin Honghuang, Nekoui Mahan, Khurshid Shaan, Friedman Samuel F, Bick Alexander G, Arduini Alessandro, Weng Lu-Chen, Choi Seung Hoan, Akkad Amer-Denis, Batra Puneet, Tucker Nathan R, Hall Amelia W, Roselli Carolina, Benjamin Emelia J, Vellarikkal Shamsudheen K, Gupta Rajat M, Stegmann Christian M, Juric Dejan, Stone James R, Vasan Ramachandran S, Ho Jennifer E, Hoffmann Udo, Lubitz Steven A, Philippakis Anthony A, Lindsay Mark E, Ellinor Patrick |
| Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes. Journal of the American Heart Association 2022 Sep e025257. Yang Qixin, Berkman Amy M, Ezekian Jordan E, Rosamilia Michael, Rosenfeld Jill A, Liu Pengfei, Landstrom Andrew |
| Polygenic Risk Score Predicts Sudden Death in Patients With Coronary Disease and Preserved Systolic Function. Journal of the American College of Cardiology 2022 8 80 (9): 873-883. Sandhu Roopinder K, Dron Jacqueline S, Liu Yunxian, Moorthy M Vinayaga, Chatterjee Neal A, Ellinor Patrick T, Chasman Daniel I, Cook Nancy R, Khera Amit V, Albert Christine |
| Post-mortem toxicology analysis in a young sudden cardiac death cohort. Forensic science international. Genetics 2022 5 59 102723. Coll Mònica, Fernàndez-Falgueras Anna, Tiron Coloma, Iglesias Anna, Buxó Maria, Simón Adrià, Nogué-Navarro Laia, Moral Sergio, Pérez-Serra Alexandra, Puigmulé Marta, Del Olmo Bernat, Campuzano Oscar, Castellà Josep, Picó Ferran, Lopez Laura, Neto Nuria, Corona Mònica, Alcalde Mireia, Brugada Ram |
| Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy. Journal of personalized medicine 2022 Apr 12 (5): . Kurzlechner Leonie M, Jones Edward G, Berkman Amy M, Tadros Hanna J, Rosenfeld Jill A, Yang Yaping, Tunuguntla Hari, Allen Hugh D, Kim Jeffrey J, Landstrom Andrew |
| Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death. PloS one 2022 4 17 (4): e0267751. Ueda Atsushi, Osawa Motoki, Naito Haruaki, Ochiai Eriko, Kakimoto |
| 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 |
| Searching for genetic modulators of the phenotypic heterogeneity in Brugada syndrome. PloS one 2022 3 17 (3): e0263469. Martínez-Campelo Laura, Cruz Raquel, Blanco-Verea Alejandro, Moscoso Isabel, Ramos-Luis Eva, Lage Ricardo, Álvarez-Barredo María, Sabater-Molina María, Peñafiel-Verdú Pablo, Jiménez-Jáimez Juan, Rodríguez-Mañero Moisés, Brion Mar |
| PROS1 variant in sudden death case of pulmonary embolism caused by calcification in the inferior vena cava: The importance of postmortem genetic analysis. Legal medicine (Tokyo, Japan) 2022 2 55 102029. Miura Aya, Funayama Kazuhisa, Nyuzuki Hiromi, Takahashi Naoya, Yamamoto Takuma, Koyama Akihide, Ikeuchi Takeshi, Takatsuka Hisakazu, Nishio Haji |
| Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Nature genetics 2022 Feb . Barc Julien, Tadros Rafik, Glinge Charlotte, Chiang David Y, Jouni Mariam, Simonet Floriane, Jurgens Sean J, Baudic Manon, Nicastro Michele, Potet Franck, Offerhaus Joost A, Walsh Roddy, Choi Seung Hoan, Verkerk Arie O, Mizusawa Yuka, Anys Soraya, Minois Damien, Arnaud Marine, Duchateau Josselin, Wijeyeratne Yanushi D, Muir Alison, Papadakis Michael, Castelletti Silvia, Torchio Margherita, Ortuño Cristina Gil, Lacunza Javier, Giachino Daniela F, Cerrato Natascia, Martins Raphaël P, Campuzano Oscar, Van Dooren Sonia, Thollet Aurélie, Kyndt Florence, Mazzanti Andrea, Clémenty Nicolas, Bisson Arnaud, Corveleyn Anniek, Stallmeyer Birgit, Dittmann Sven, Saenen Johan, Noël Antoine, Honarbakhsh Shohreh, Rudic Boris, Marzak Halim, Rowe Matthew K, Federspiel Claire, Le Page Sophie, Placide Leslie, Milhem Antoine, Barajas-Martinez Hector, Beckmann Britt-Maria, Krapels Ingrid P, Steinfurt Johannes, Winkel Bo Gregers, Jabbari Reza, Shoemaker Moore B, Boukens Bas J, Škori?-Milosavljevi? Doris, Bikker Hennie, Manevy Federico, Lichtner Peter, Ribasés Marta, Meitinger Thomas, Müller-Nurasyid Martina, , Veldink Jan H, van den Berg Leonard H, Van Damme Philip, Cusi Daniele, Lanzani Chiara, Rigade Sidwell, Charpentier Eric, Baron Estelle, Bonnaud Stéphanie, Lecointe Simon, Donnart Audrey, Le Marec Hervé, Chatel Stéphanie, Karakachoff Matilde, Bézieau Stéphane, London Barry, Tfelt-Hansen Jacob, Roden Dan, Odening Katja E, Cerrone Marina, Chinitz Larry A, Volders Paul G, van de Berg Maarten P, Laurent Gabriel, Faivre Laurence, Antzelevitch Charles, Kääb Stefan, Arnaout Alain Al, Dupuis Jean-Marc, Pasquie Jean-Luc, Billon Olivier, Roberts Jason D, Jesel Laurence, Borggrefe Martin, Lambiase Pier D, Mansourati Jacques, Loeys Bart, Leenhardt Antoine, Guicheney Pascale, Maury Philippe, Schulze-Bahr Eric, Robyns Tomas, Breckpot Jeroen, Babuty Dominique, Priori Silvia G, Napolitano Carlo, , de Asmundis Carlo, Brugada Pedro, Brugada Ramon, Arbelo Elena, Brugada Josep, Mabo Philippe, Behar Nathalie, Giustetto Carla, Molina Maria Sabater, Gimeno Juan R, Hasdemir Can, Schwartz Peter J, Crotti Lia, McKeown Pascal P, Sharma Sanjay, Behr Elijah R, Haissaguerre Michel, Sacher Frédéric, Rooryck Caroline, Tan Hanno L, Remme Carol A, Postema Pieter G, Delmar Mario, Ellinor Patrick T, Lubitz Steven A, Gourraud Jean-Baptiste, Tanck Michael W, George Alfred L, MacRae Calum A, Burridge Paul W, Dina Christian, Probst Vincent, Wilde Arthur A, Schott Jean-Jacques, Redon Richard, Bezzina Connie |
| Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7. Genes 2022 Feb 13 (2): . Antoniutti Guido, Caimi-Martinez Fiama Giuliana, Álvarez-Rubio Jorge, Morlanes-Gracia Paula, Pons-Llinares Jaume, Rodríguez-Picón Blanca, Fortuny-Frau Elena, Torres-Juan Laura, Heine-Suner Damian, Ripoll-Vera Tom |
| 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 |
| Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China. Frontiers in genetics 2022 12 13 1062715. Chang Siyu, Yang Yi, Xu Feng, Ji Wenjun, Zhan Xia, Gao Xiaolan, Chen Ting, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Lu Deyun, Zhang Kaichuang, Gu Xuefan, Han Lians |
| 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 |
| Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program. Journal of community genetics 2022 10 13 (6): 629-639. Siskind Tamar, Williams Nori, Sebastin Monisha, Marion Robert, McDonald Thomas V, Walsh Christine, Sampson Barbara, Tang Yingying, Clark Bradley |
| Spontaneous coronary artery dissection is infrequent in individuals with heritable thoracic aortic disease despite partially shared genetic susceptibility. American journal of medical genetics. Part A 2022 Jan . Murad Andrea M, Hill Hannah L, Wang Yu, Ghannam Michael, Yang Min-Lee, Pugh Norma L, Asch Federico M, Hornsby Whitney, Driscoll Anisa, McNamara Jennifer, Willer Cristen J, Regalado Ellen S, , , Milewicz Dianna M, Eagle Kim A, Ganesh Santhi |
| Genetic Determinants of Sudden Unexpected Death in Pediatrics. Genetics in medicine : official journal of the American College of Medical Genetics 2022 1 24 (4): 839-850. Koh Hyun Yong, Haghighi Alireza, Keywan Christine, Alexandrescu Sanda, Plews-Ogan Erin, Haas Elisabeth A, Brownstein Catherine A, Vargas Sara O, Haynes Robin L, Berry Gerard T, Holm Ingrid A, Poduri Annapurna H, Goldstein Richard |
| The Association of Novel Single-Nucleotide Variants in the Collagen Matrix-Encoding Gene PRDM5 with Aortic Aneurysmal Disease. Life (Basel, Switzerland) 2023 8 13 (8): . Peyton Moore, Adam Wolf, Mohanakrishnan Sathyamoort |
| Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study. International journal of legal medicine 2023 8 . Shouyu Wang, Yongsheng Chen, Jianghua Du, Zhimin Wang, Zijie Lin, Guanghui Hong, Dong Qu, Yiwen Shen, Liliang |
| Recommendations for the Management of Cardiomyopathy Mutation Carriers: Evidence, Doubts, and Intentions. Journal of clinical medicine 2023 7 12 (14): . José F Couto, Elisabete Marti |
| The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain. Genes 2023 7 14 (7): . Ainhoa Robles-Mezcua, Amalio Ruíz-Salas, Carmen Medina-Palomo, María Robles-Mezcua, Arancha Díaz-Expósito, María Victoria Ortega-Jiménez, Juan Ramón Gimeno-Blanes, Manuel F Jiménez-Navarro, José Manuel García-Pinil |
| An ABCC9 Missense Variant Is Associated with Sudden Cardiac Death and Dilated Cardiomyopathy in Juvenile Dogs. Genes 2023 5 14 (5): . Eva Furrow, Nicole Tate, Katie Minor, Shannon Martinson, Shannon Larrabee, Marjukka Anttila, Meg Sleeper, Paula Hentho |
| Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain. Genes 2023 4 14 (4): . Natalia Fernández Suárez, María Teresa Viadero Ubierna, Jesús Garde Basas, María Esther Onecha de la Fuente, María Teresa Amigo Lanza, Gonzalo Martin Gorria, Adrián Rivas Pérez, Luis Ruiz Guerrero, Domingo González-Lamu |
| The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. medRxiv : the preprint server for health sciences 2023 4 . Puckelwartz Megan J, Pesce Lorenzo L, Hernandez Edgar J, Webster Gregory, Dellefave-Castillo Lisa M, Russell Mark W, Geisler Sarah S, Kearns Samuel D, Etheridge Felix K, Etheridge Susan P, Monroe Tanner O, Pottinger Tess D, Kannankeril Prince J, Shoemaker M Benjamin, Fountain Darlene, Roden Dan M, MacLeod Heather, Burns Kristin M, Yandell Mark, Tristani-Firouzi Martin, George Alfred L, McNally Elizabeth |
| End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series. Internal medicine (Tokyo, Japan) 2023 3 . Naito Susumu, Higo Shuichiro, Kameda Satoshi, Ogawa Shou, Tabata Tomoka, Akazawa Yasuhiro, Nakamura Daisuke, Nakamoto Kei, Sera Fusako, Kuramoto Yuki, Aasano Yoshihiro, Hikoso Shungo, Miyagawa Shigeru, Sakata Yasus |
| 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 |
| Polygenic Risk Score Associates With Atherosclerotic Plaque Characteristics at Autopsy. Arteriosclerosis, thrombosis, and vascular biology 2023 11 . Anne Cornelissen, Neel V Gadhoke, Kathleen Ryan, Chani J Hodonsky, Rebecca Mitchell, Nathan Bihlmeyer, ThuyVy Duong, Zhifen Chen, Armelle Dikongue, Atsushi Sakamoto, Yu Sato, Rika Kawakami, Masayuki Mori, Kenji Kawai, Raquel Fernandez, Saikat Kumar B Ghosh, Ryan Braumann, Biniyam Abebe, Robert Kutys, Matthew Kutyna, Maria E Romero, Frank D Kolodgie, Clint L Miller, Charles C Hong, Megan L Grove, Jennifer A Brody, Nona Sotoodehnia, Dan E Arking, Heribert Schunkert, Braxton D Mitchell, Liang Guo, Renu Virmani, Aloke V Fi |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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