International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
Circulation. Genomic And Precision Medicine
James, Cynthia A CA; Jongbloed, Jan D H JDH; Hershberger, Ray E RE; Morales, Ana A; Judge, Daniel P DP; Syrris, Petros P; Pilichou, Kalliopi K; Domingo, Argelia Medeiros AM; Murray, Brittney B; Cadrin-Tourigny, Julia J; Lekanne Deprez, Ronald R; Celeghin, Rudy R; Protonotarios, Alexandros A; Asatryan, Babken B; Brown, Emily E; Jordan, Elizabeth E; McGlaughon, Jennifer J; Thaxton, Courtney C; Kurtz, C Lisa CL; van Tintelen, J Peter JP
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR
Publication Date: 2021-01
Variant appearance in text: SCN5A: 1247A>G; Tyr416Cys
Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications.
Journal Of The American Heart Association
Orgeron, Gabriela M GM; James, Cynthia A CA; Te Riele, Anneline A; Tichnell, Crystal C; Murray, Brittney B; Bhonsale, Aditya A; Kamel, Ihab R IR; Zimmerman, Stephan L SL; Judge, Daniel P DP; Crosson, Jane J; Tandri, Harikrishna H; Calkins, Hugh H
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis.
Cardiovascular Research
Te Riele, Anneline S J M AS; Agullo-Pascual, Esperanza E; James, Cynthia A CA; Leo-Macias, Alejandra A; Cerrone, Marina M; Zhang, Mingliang M; Lin, Xianming X; Lin, Bin B; Sobreira, Nara L NL; Amat-Alarcon, Nuria N; Marsman, Roos F RF; Murray, Brittney B; Tichnell, Crystal C; van der Heijden, Jeroen F JF; Dooijes, Dennis D; van Veen, Toon A B TA; Tandri, Harikrishna H; Fowler, Steven J SJ; Hauer, Richard N W RN; Tomaselli, Gordon G; van den Berg, Maarten P MP; Taylor, Matthew R G MR; Brun, Francesca F; Sinagra, Gianfranco G; Wilde, Arthur A M AA; Mestroni, Luisa L; Bezzina, Connie R CR; Calkins, Hugh H; Peter van Tintelen, J J; Bu, Lei L; Delmar, Mario M; Judge, Daniel P DP