日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

评估CPVT和短QT综合征在猝死中的基因有效性

Walsh, Roddy; Adler, Arnon; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Bikker, Hennie; Amenta, Simona; Feilotter, Harriet; Nannenberg, Eline A; Mazzarotto, Francesco; Trevisan, Valentina; Garcia, John; Hershberger, Ray E; Perez, Marco V; Sturm, Amy C; Ware, James S; Zareba, Wojciech; Novelli, Valeria; Wilde, Arthur A M; Gollob, Michael H

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

通过对联盟疾病队列和人群对照进行定量分析,增强对遗传性心律失常中罕见变异的解读。

Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; Campuzano, Oscar; Castelletti, Silvia; Celen, Candan; Clauss, Sebastian; Corveleyn, Anniek; Crotti, Lia; Dagradi, Federica; de Asmundis, Carlo; Denjoy, Isabelle; Dittmann, Sven; Ellinor, Patrick T; Ortuño, Cristina Gil; Giustetto, Carla; Gourraud, Jean-Baptiste; Hazeki, Daisuke; Horie, Minoru; Ishikawa, Taisuke; Itoh, Hideki; Kaneko, Yoshiaki; Kanters, Jørgen K; Kimoto, Hiroki; Kotta, Maria-Christina; Krapels, Ingrid P C; Kurabayashi, Masahiko; Lazarte, Julieta; Leenhardt, Antoine; Loeys, Bart L; Lundin, Catarina; Makiyama, Takeru; Mansourati, Jacques; Martins, Raphaël P; Mazzanti, Andrea; Mörner, Stellan; Napolitano, Carlo; Ohkubo, Kimie; Papadakis, Michael; Rudic, Boris; Molina, Maria Sabater; Sacher, Frédéric; 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; Kääb, 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

Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case

儿童期发病的奈西林扩张型心肌病:一例杂合子病例和一例纯合子病例

Bruyndonckx, Luc; Vogelzang, Judith L; Bugiani, Marianna; Straver, Bart; Kuipers, Irene M; Onland, Wes; Nannenberg, Eline A; Clur, Sally-Ann; van der Crabben, Saskia N

An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome

一项国际多中心循证医学研究对已报道导致先天性长QT综合征的基因进行了重新评估

Adler, Arnon; Novelli, Valeria; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Nannenberg, Eline A; Feilotter, Harriet; Amenta, Simona; Mazza, Daniela; Bikker, Hennie; Sturm, Amy C; Garcia, John; Ackerman, Michael J; Hershberger, Raymond E; Perez, Marco V; Zareba, Wojciech; Ware, James S; Wilde, Arthur A M; Gollob, Michael H

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

跨种族全基因组关联研究揭示长QT综合征的遗传结构和遗传性

Lahrouchi, Najim; Tadros, Rafik; Crotti, Lia; Mizusawa, Yuka; Postema, Pieter G; Beekman, Leander; Walsh, Roddy; Hasegawa, Kanae; Barc, Julien; Ernsting, Marko; Turkowski, Kari L; Mazzanti, Andrea; Beckmann, Britt M; Shimamoto, Keiko; Diamant, Ulla-Britt; Wijeyeratne, Yanushi D; Kucho, Yu; Robyns, Tomas; Ishikawa, Taisuke; Arbelo, Elena; Christiansen, Michael; Winbo, Annika; Jabbari, Reza; Lubitz, Steven A; Steinfurt, Johannes; Rudic, Boris; Loeys, Bart; Shoemaker, M Ben; Weeke, Peter E; Pfeiffer, Ryan; Davies, Brianna; Andorin, Antoine; Hofman, Nynke; Dagradi, Federica; Pedrazzini, Matteo; Tester, David J; Bos, J Martijn; Sarquella-Brugada, Georgia; Campuzano, Óscar; Platonov, Pyotr G; Stallmeyer, Birgit; Zumhagen, Sven; Nannenberg, Eline A; Veldink, Jan H; van den Berg, Leonard H; Al-Chalabi, Ammar; Shaw, Christopher E; Shaw, Pamela J; Morrison, Karen E; Andersen, Peter M; Müller-Nurasyid, Martina; Cusi, Daniele; Barlassina, Cristina; Galan, Pilar; Lathrop, Mark; Munter, Markus; Werge, Thomas; Ribasés, Marta; Aung, Tin; Khor, Chiea C; Ozaki, Mineo; Lichtner, Peter; Meitinger, Thomas; van Tintelen, J Peter; Hoedemaekers, Yvonne; Denjoy, Isabelle; Leenhardt, Antoine; Napolitano, Carlo; Shimizu, Wataru; Schott, Jean-Jacques; Gourraud, Jean-Baptiste; Makiyama, Takeru; Ohno, Seiko; Itoh, Hideki; Krahn, Andrew D; Antzelevitch, Charles; Roden, Dan M; Saenen, Johan; Borggrefe, Martin; Odening, Katja E; Ellinor, Patrick T; Tfelt-Hansen, Jacob; Skinner, Jonathan R; van den Berg, Maarten P; Olesen, Morten Salling; Brugada, Josep; Brugada, Ramón; Makita, Naomasa; Breckpot, Jeroen; Yoshinaga, Masao; Behr, Elijah R; Rydberg, Annika; Aiba, Takeshi; Kääb, Stefan; Priori, Silvia G; Guicheney, Pascale; Tan, Hanno L; Newton-Cheh, Christopher; Ackerman, Michael J; Schwartz, Peter J; Schulze-Bahr, Eric; Probst, Vincent; Horie, Minoru; Wilde, Arthur A; Tanck, Michael W T; Bezzina, Connie R

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

SCN5A 突变类型和遗传风险评分与 SCN5A 家族中的布鲁加达综合征表型存在不同程度的关联

Wijeyeratne, Yanushi D; Tanck, Michael W; Mizusawa, Yuka; Batchvarov, Velislav; Barc, Julien; Crotti, Lia; Bos, J Martijn; Tester, David J; Muir, Alison; Veltmann, Christian; Ohno, Seiko; Page, Stephen P; Galvin, Joseph; Tadros, Rafik; Muggenthaler, Martina; Raju, Hariharan; Denjoy, Isabelle; Schott, Jean-Jacques; Gourraud, Jean-Baptiste; Skoric-Milosavljevic, Doris; Nannenberg, Eline A; Redon, Richard; Papadakis, Michael; Kyndt, Florence; Dagradi, Federica; Castelletti, Silvia; Torchio, Margherita; Meitinger, Thomas; Lichtner, Peter; Ishikawa, Taisuke; Wilde, Arthur A M; Takahashi, Kazuhiro; Sharma, Sanjay; Roden, Dan M; Borggrefe, Martin M; McKeown, Pascal P; Shimizu, Wataru; Horie, Minoru; Makita, Naomasa; Aiba, Takeshi; Ackerman, Michael J; Schwartz, Peter J; Probst, Vincent; Bezzina, Connie R; Behr, Elijah R

Cardiogenetics, 25 years a growing subspecialism

心脏遗传学,25年来不断发展的亚专科

Wilde, A A M; Nannenberg, E; van der Werf, C

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

GNB5基因突变导致常染色体隐性遗传的多系统综合征,伴有窦性心动过缓和认知障碍

Lodder, Elisabeth M; De Nittis, Pasquelena; Koopman, Charlotte D; Wiszniewski, Wojciech; Moura de Souza, Carolina Fischinger; Lahrouchi, Najim; Guex, Nicolas; Napolioni, Valerio; Tessadori, Federico; Beekman, Leander; Nannenberg, Eline A; Boualla, Lamiae; Blom, Nico A; de Graaff, Wim; Kamermans, Maarten; Cocciadiferro, Dario; Malerba, Natascia; Mandriani, Barbara; Coban Akdemir, Zeynep Hande; Fish, Richard J; Eldomery, Mohammad K; Ratbi, Ilham; Wilde, Arthur A M; de Boer, Teun; Simonds, William F; Neerman-Arbez, Marguerite; Sutton, V Reid; Kok, Fernando; Lupski, James R; Reymond, Alexandre; Bezzina, Connie R; Bakkers, Jeroen; Merla, Giuseppe

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

GNB5 突变导致常染色体隐性多系统综合征,伴有窦性心动过缓和认知障碍

Elisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, Wojciech Wiszniewski, Carolina Fischinger Moura de Souza, Najim Lahrouchi, Nicolas Guex, Valerio Napolioni, Federico Tessadori, Leander Beekman, Eline A Nannenberg, Lamiae Boualla, Nico A Blom, Wim de Graaff, Maarten Kamermans, Dario Coc

Palpitations in a 19-year old man and a slow heart rate at rest

一名19岁男性出现心悸,且静息心率缓慢。

van der Zwaag, P A; van Rijsingen, I A W; de Ruiter, R; Nannenberg, E A; Groeneweg, J A; Post, J G; Hauer, R N W; van Gelder, I C; van den Berg, M P; van der Harst, P; Wilde, A A M; van Tintelen, J P; Wilde, A A M; Wilde, A A M