Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
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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Genetics in medicine
Genetics in medicine
47-58页
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