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| 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 |
| 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 |
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 |
| 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 |
| 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 |
| 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 |
| Genomic Autopsy of Sudden Deaths in Young Individuals. JAMA cardiology 2021 Aug . Webster Gregory, Puckelwartz Megan J, Pesce Lorenzo L, Dellefave-Castillo Lisa M, Vanoye Carlos G, Potet Franck, Page Patrick, Kearns Samuel D, Pottinger Tess, White Steven, Arunkumar Ponni, Olson Rachael, Kofman Amber, Ibrahim Nora, Ing Alexander, Brew Casey, Yap Kai Lee, Kadri Sabah, George Alfred L, McNally Elizabeth |
| Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome. European heart journal 2021 Jul . Ishikawa Taisuke, Kimoto Hiroki, Mishima Hiroyuki, Yamagata Kenichiro, Ogata Soshiro, Aizawa Yoshiyasu, Hayashi Kenshi, Morita Hiroshi, Nakajima Tadashi, Nakano Yukiko, Nagase Satoshi, Murakoshi Nobuyuki, Kowase Shinya, Ohkubo Kimie, Aiba Takeshi, Morimoto Shimpei, Ohno Seiko, Kamakura Shiro, Nogami Akihiko, Takagi Masahiko, Karakachoff Matilde, Dina Christian, Schott Jean-Jacques, Yoshiura Koh-Ichiro, Horie Minoru, Shimizu Wataru, Nishimura Kunihiro, Kusano Kengo, Makita Naoma |
| Protective role of TIRAP functional variant against development of coronary artery disease. Saudi journal of biological sciences 2021 Jun 28 (6): 3548-3552. Noreen Mamoona, Imran Muhammad, Safi Sher Zaman, Bashir Muhammad Amjad, Gul Sana, Alkhuriji Afrah Fahad, Aloma Suliman Yousef, Alharbi Hanan Mualla, Arshad Muhamm |
| Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases. International journal of legal medicine 2021 Apr . Neubauer Jacqueline, Wang Shouyu, Russo Giancarlo, Haas Cordu |
| Aquaporin-1 and aquaporin-9 gene variations in sudden infant death syndrome. International journal of legal medicine 2021 Jan . Opdal Siri Hauge, Ferrante Linda, Rognum Torleiv Ole, Stray-Pedersen Ar |
| Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.
Nature genetics 2021 Jan . Tadros Rafik, Francis Catherine, Xu Xiao, Vermeer Alexa M C, Harper Andrew R, Huurman Roy, Kelu Bisabu Ken, Walsh Roddy, Hoorntje Edgar T, Te Rijdt Wouter P, Buchan Rachel J, van Velzen Hannah G, van Slegtenhorst Marjon A, Vermeulen Jentien M, Offerhaus Joost Allard, Bai Wenjia, de Marvao Antonio, Lahrouchi Najim, Beekman Leander, Karper Jacco C, Veldink Jan H, Kayvanpour Elham, Pantazis Antonis, Baksi A John, Whiffin Nicola, Mazzarotto Francesco, Sloane Geraldine, Suzuki Hideaki, Schneider-Luftman Deborah, Elliott Paul, Richard Pascale, Ader Flavie, Villard Eric, Lichtner Peter, Meitinger Thomas, Tanck Michael W T, van Tintelen J Peter, Thain Andrew, McCarty David, Hegele Robert A, Roberts Jason D, Amyot Julie, Dubé Marie-Pierre, Cadrin-Tourigny Julia, Giraldeau Geneviève, L'Allier Philippe L, Garceau Patrick, Tardif Jean-Claude, Boekholdt S Matthijs, Lumbers R Thomas, Asselbergs Folkert W, Barton Paul J R, Cook Stuart A, Prasad Sanjay K, O'Regan Declan P, van der Velden Jolanda, Verweij Karin J H, Talajic Mario, Lettre Guillaume, Pinto Yigal M, Meder Benjamin, Charron Philippe, de Boer Rudolf A, Christiaans Imke, Michels Michelle, Wilde Arthur A M, Watkins Hugh, Matthews Paul M, Ware James S, Bezzina Connie |
| Association of Sickle Cell Trait With Incidence of Coronary Heart Disease Among African American Individuals. JAMA network open 2021 1 4 (1): e2030435. Hyacinth Hyacinth I, Franceschini Nora, Seals Samantha R, Irvin Marguerite R, Chaudhary Ninad, Naik Rakhi P, Alonso Alvaro, Carty Cara L, Burke Gregory L, Zakai Neil A, Winkler Cheryl A, David Victor A, Kopp Jeffrey B, Judd Suzanne E, Adams Robert J, Gee Beatrice E, Longstreth W T, Egede Leonard, Lackland Daniel T, Greenberg Charles S, Taylor Herman, Manson JoAnn E, Key Nigel S, Derebail Vimal K, Kshirsagar Abhijit V, Folsom Aaron R, Konety Suma H, Howard Virginia, Allison Matthew, Wilson James G, Correa Adolfo, Zhi Degui, Arnett Donna K, Howard George, Reiner Alexander P, Cushman Mary, Safford Monika |
| 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 |
| FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy. International heart journal 2021 1 62 (1): 127-134. Qin Xianyu, Li Ping, Qu Hui-Qi, Liu Yichuan, Xia Yu, Chen Shaoxian, Yang Yongchao, Huang Shufang, Wen Pengju, Zhou Xianwu, Li Xiaofeng, Wang Yonghua, Tian Lifeng, Hakonarson Hakon, Wu Yueheng, Zhuang Ji |
| Targeting the population for gene therapy with MYBPC3. Journal of molecular and cellular cardiology 2020 Oct . Carrier Luc |
| Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report. Molecular medicine reports 2020 Apr . Fan Peng, Zhang Di, Yang Kun-Qi, Tian Tao, Luo Fang, Liu Ya-Xin, Wang Lin-Ping, Zhou Xian-Lia |
| TBX5-encoded T-box transcription factor 5 variant T223M is associated with long QT syndrome and pediatric sudden cardiac death. American journal of medical genetics. Part A 2020 12 185 (3): 923-929. Markunas Alexandra M, Manivannan Perathu K R, Ezekian Jordan E, Agarwal Agnim, Eisner William, Alsina Katherina, Allen Hugh D, Wray Gregory A, Kim Jeffrey J, Wehrens Xander H T, Landstrom Andrew |
| Systematic Meta-Analysis of the Association Between a Common NOS1AP Genetic Polymorphism, the QTc Interval, and Sudden Death. International heart journal 2019 Aug . Zang Xiaobiao, Li Sisi, Zhao Yonghui, Chen Ke, Wang Xianqing, Song Weifeng, Ma Jifang, Tu Xin, Xia Yunlong, Zhang Shulong, Gao Chuan |
| A common indel polymorphism of the Desmoglein-2 (DSG2) is associated with sudden cardiac death in Chinese populations. Forensic science international 2019 Jun 301 382-387. Zou Yan, Zhang Qing, Zhang Jianhua, Chen Xuekun, Zhou Wei, Yang Zhenzhen, Yang Qi, Yu Huan, Li Lijuan, He Yan, Li Chengtao, Zhang Suhua, Zhu Shaohua, Luo Bin, Gao Yuzh |
| Usefulness of Single Nucleotide Polymorphisms as Predictors of Sudden Cardiac Death. The American journal of cardiology 2019 Mar . Tamariz Leonardo, Balda Javier, Pareja Dennise, Palacio Ana, Myerburg Robert J, Conway Douglas, Davis Lea, Goldberger Jeffrey |
| Predictive value of exercise testing in athletes with ventricular ectopy evaluated by cardiac magnetic resonance. Heart rhythm 2019 Feb 16 (2): 239-248. Cipriani Alberto, Zorzi Alessandro, Sarto Patrizio, Donini Martino, Rigato Ilaria, Bariani Riccardo, De Lazzari Manuel, Pilichou Kalliopi, Thiene Gaetano, Iliceto Sabino, Basso Cristina, Corrado Domenico, Perazzolo Marra Martina, Bauce Barba |
| GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations.
PloS one 2019 14 (6): e0217796. Swenson Brenton R, Louie Tin, Lin Henry J, Méndez-Giráldez Raúl, Below Jennifer E, Laurie Cathy C, Kerr Kathleen F, Highland Heather, Thornton Timothy A, Ryckman Kelli K, Kooperberg Charles, Soliman Elsayed Z, Seyerle Amanda A, Guo Xiuqing, Taylor Kent D, Yao Jie, Heckbert Susan R, Darbar Dawood, Petty Lauren E, McKnight Barbara, Cheng Susan, Bello Natalie A, Whitsel Eric A, Hanis Craig L, Nalls Mike A, Evans Daniel S, Rotter Jerome I, Sofer Tamar, Avery Christy L, Sotoodehnia No |
| Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation. Diabetes & metabolism 2018 Oct . Kwapich M, Lacroix D, Espiard S, Ninni S, Brigadeau F, Kouakam C, Degroote P, Laurent J M, Tiffreau V, Jannin A, Humbert L, Ben Hamou A, Tard C, Ben Yaou R, Lamblin N, Klug D, Richard P, Vigouroux C, Bonne G, Vantyghem M C, |
| Prognostic predictive value of TLR4 polymorphisms in Han Chinese population with hypertrophic cardiomyopathy. The Kaohsiung journal of medical sciences 2018 Oct 34 (10): 569-575. Han Ke, Li Yan-Pi |
| Noncardiac genetic predisposition in sudden infant death syndrome. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug . Gray Belinda, Tester David J, Wong Leonie Ch, Chanana Pritha, Jaye Amie, Evans Jared M, Baruteau Alban-Elouen, Evans Margaret, Fleming Peter, Jeffrey Iona, Cohen Marta, Tfelt-Hansen Jacob, Simpson Michael A, Ackerman Michael J, Behr Elijah |
| 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 |
| Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series. Circulation 2018 Jun 137 (25): 2705-2715. Shanks Garrett W, Tester David J, Ackerman Jaeger P, Simpson Michael A, Behr Elijah R, White Steven M, Ackerman Michael |
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