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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

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作者: Walsh, Roddy [1] ; Lahrouchi, Najim [2] ; Tadros, Rafik [3] ; Kyndt, Florence [4] ; Glinge, Charlotte [5] ; Postema, Pieter G. [6] ; Amin, Ahmad S. [7] ; Nannenberg, Eline A. [8] ; Ware, James S. [9] ; Whiffin, Nicola [10] ; Mazzarotto, Francesco [11] ; Skoric-Milosavljevic, Doris [12] ; Krijger, Christian [13] ; Arbelo, Elena [14] ; Babuty, Dominique [15] ; Barajas-Martinez, Hector [16] ; Beckmann, Britt M. [17] ; Bezieau, Stephane [18] ; Bos, J. Martijn [19] ; Breckpot, Jeroen [20] ; Campuzano, Oscar [21] ; Castelletti, Silvia [22] ; Celen, Candan [23] ; Clauss, Sebastian [24] ; Corveleyn, Anniek [25] ; Crotti, Lia [26] ; Dagradi, Federica [27] ; de Asmundis, Carlo [28] ; Denjoy, Isabelle [29] ; Dittmann, Sven [30] ; Ellinor, Patrick T. [31] ; Ortuno, Cristina Gil [32] ; Giustetto, Carla [33] ; Gourraud, Jean-Baptiste [34] ; Hazeki, Daisuke [35] ; Horie, Minoru [36] ; Ishikawa, Taisuke [37] ; Itoh, Hideki [38] ; Kaneko, Yoshiaki [39] ; Kanters, Jorgen K. [40] ; Kimoto, Hiroki [41] ; Kotta, Maria-Christina [42] ; Krapels, Ingrid P. C. [43] ; Kurabayashi, Masahiko [44] ; Lazarte, Julieta [45] ; Leenhardt, Antoine [46] ; Loeys, Bart L. [47] ; Lundin, Catarina [48] ; Makiyama, Takeru [49] ; Mansourati, Jacques [50] ; Martins, Raphael P. [51] ; Mazzanti, Andrea [52] ; Morner, Stellan ; Napolitano, Carlo ; Ohkubo, Kimie ; Papadakis, Michael ; Rudic, Boris ; Molina, Maria Sabater ; Sacher, Frederic ; Sahin, Hatice ; Sarquella-Brugada, Georgia ; Sebastiano, Regina ; Sharma, Sanjay ; Sheppard, Mary N. ; Shimamoto, Keiko ; Shoemaker, M. Benjamin ; Stallmeyer, Birgit ; Steinfurt, Johannes ; Tanaka, Yuji ; Tester, David J. ; Usuda, Keisuke ; van der Zwaag, Paul A. ; Van Dooren, Sonia ; Van Laer, Lut ; Winbo, Annika ; Winkel, Bo G. ; Yamagata, Kenichiro ; Zumhagen, Sven ; Volders, Paul G. A. ; Lubitz, Steven A. ; Antzelevitch, Charles ; Platonov, Pyotr G. ; Odening, Katja E. ; Roden, Dan M. ; Roberts, Jason D. ; Skinner, Jonathan R. ; Tfelt-Hansen, Jacob ; van den Berg, Maarten P. ; Olesen, Morten S. ; Lambiase, Pier D. ; Borggrefe, Martin ; Hayashi, Kenshi ; Rydberg, Annika ; Nakajima, Tadashi ; Yoshinaga, Masao ; Saenen, Johan B. ; Kaeaeb, Stefan ; Brugada, Pedro ; Robyns, Tomas ; Giachino, Daniela F. ; Ackerman, Michael J. ; Brugada, Ramon ; Brugada, Josep ; Gimeno, Juan R. ; Hasdemir, Can ; Guicheney, Pascale ; Priori, Silvia G. ; Schulze-Bahr, Eric ; Makita, Naomasa ; Schwartz, Peter J. ; Shimizu, Wataru ; Aiba, Takeshi ; Schott, Jean-Jacques ; Redon, Richard ; Ohno, Seiko ; Probst, Vincent ; Behr, Elijah R. ; Barc, Julien ; Bezzina, Connie R.
作者单位: Univ Rennes, CHU Rennes, INSERM, Rennes, France [1] Univ Montreal, Montreal Heart Inst, Dept Med, Cardiovasc Genet Ctr, Montreal, PQ, Canada [2] Brussel Vrije Univ Brussel, Postgrad Program Cardiac Electrophysiol, Heart Rhythm Management Ctr [3] Univ Freiburg, Med Fac, Dept Cardiol & Angiol 1, Heart Ctr, Freiburg, Germany [4] Kanazawa Univ, Dept Cardiovasc Med, Grad Sch Med Sci, Kanazawa, Ishikawa, Japan [5] Univ Med Ctr Mannheim, Dept Med, Mannheim, Germany [6] Mayo Clin, Dept Cardiovasc Med, Div Heart Rhythm Serv, Rochester, MN USA [7] Univ Bordeaux, LIRYC Inst, Hop Cardiol Haut Leveque, Bordeaux, France [8] Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN USA [9] Lund Univ, Dept Clin Genet & Pathol, Lund, Sweden [10] Natl Cerebral & Cardiovasc Ctr, Dept Cardiovasc Med, Suita, Osaka, Japan [11] Sorbonne Univ, Inst Cardiometab & Nutr ICAN, INSERM, UMRS 1166, Paris, France [12] Lankenau Inst Med Res, Wynnewood, PA USA [13] Nihon Univ, Dept Cardiovasc Med, Tokyo, Japan [14] Gunma Univ, Dept Cardiovasc Med, Grad Sch Med, Maebashi, Gunma, Japan [15] Univ Barcelona, Hosp Clin, Arrhythmia Sect, Cardiol Dept, Barcelona, Spain [16] Natl Cerebral & Cardiovasc Ctr, Om Res Ctr, Suita, Osaka, Japan [17] Univ Groningen, Univ Med Ctr Groningen, Dept Cardiol, Groningen, Netherlands [18] Imperial Coll London, Natl Heart & Lung Inst, London, England [19] Univ Auckland, Dept Physiol, Auckland, New Zealand [20] Shiga Univ Med Sci, Ctr Epidemiol Res Asia, Otsu, Shiga, Japan [21] Western Univ, Dept Med, Schulich Sch Med & Dent, London, ON, Canada [22] CHU Brest, Serv Cardiol, Brest, France [23] Kagoshima City Hosp, Dept Pediat, Kagoshima, Japan [24] Maastricht Univ, Dept Clin Genet, Med Ctr, Maastricht, Netherlands [25] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands [26] Nippon Med Sch, Dept Cardiovasc Med, Tokyo, Japan [27] Univ Copenhagen, Dept Biomed Sci, Copenhagen, Denmark [28] Western Univ, Div Cardiol, Dept Med, Sect Cardiac Electrophysiol, London, ON, Canada [29] Lund Univ, Clin Sci, Dept Cardiol, Lund, Sweden [30] Ctr Cardiac Arrhythmias Genet Origin, Ist Auxol Italiano, IRCCS, Milan, Italy [31] Starship Childrens Hosp, Cardiac Inherited Dis Grp, Auckland, New Zealand [32] Univ Antwerp, Antwerp Univ Hosp, Dept Cardiol, Antwerp, Belgium [33] Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, Suita, Osaka, Japan [34] CHU Tours, Serv Cardiol, Tours, France [35] San Luigi Univ Hosp, Med Genet, Orbassano, TO, Italy [36] European Reference Network Rare Low Prevalence &, Amsterdam, Netherlands [37] Kyoto Univ, Dept Cardiovasc Med, Grad Sch Med, Kyoto, Japan [38] Univ Torino, Citta Salute & Sci Hosp, Dept Med Sci, Div Cardiol, Turin, Italy [39] Ctr Invest Biomed Red Enfermedades Cardiovasc CIB, Madrid, Spain [40] Univ Antwerp, Ctr Med Genet, Fac Med & Hlth Sci, Antwerp, Belgium [41] Massachusetts Gen Hosp, Cardiac Arrhythmia Serv, Boston, MA 02114 USA [42] Hiroshima Univ Hosp, Div Patient Safety, Minami Ku, Hiroshima, Japan [43] Univ Girona, Hosp Trueta, CiberCV, IDIBGI, Girona, Spain [44] Univ Copenhagen, Dept Biomed Sci, Lab Expt Cardiol, Copenhagen, Denmark [45] Nagasaki Univ, Dept Mol Physiol, Grad Sch Biomed Sci, Nagasaki, Japan [46] Univ Amsterdam, Amsterdam UMC, Amsterdam Cardiovasc Sci, Dept Clin & Expt Cardiol,Heart Ctr [47] Klinikum Ludwig Maximilians Univ Munchen, Dept Internal Med 1, LMU Klinikum, Munich, Germany [48] Maastricht Univ, Dept Cardiol, Med Ctr, CARIM, Maastricht, Netherlands [49] Natl Hosp Org Kagoshima Med Ctr, Dept Pediat, Kagoshima, Japan [50] Ege Univ, Dept Cardiol, Sch Med, Izmir, Turkey [51] Univ Barcelona, Cardiovasc Inst, Hosp Clin, Barcelona, Spain [52]
发布时间 2021-11-26
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