Connie R. Bezzina - Publications, H-index & Citations

Connie R. Bezzina

mayo clinic

76H指数

413论文数

2.2W被引数

收录论文 175

发表时间

Empirically determined baseline masking strategies and other considerations for gene-level burden tests 经验确定的基线掩蔽策略和基因水平负荷测试的其他考虑因素

Nature Genetics

IF29

2026-05-08

OAAI

Trang Nguyen; Ryan Koesterer; Poeya Haydarlou; Peter Dornbos; Satoshi Yoshiji; Alex Llamas; Dongkeun Jang; Patrick Smadbeck; Annie Moriondo; Quy Hoang; Oliver Ruebenacker; Connie R. Bezzina; Patrick Ellinor; Sean J. Jurgens; Noël P. Burtt; Jason Flannick

Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries 多基因风险评分在多种族人群中改善心房颤动的基因组预测

Nature Communications

IF15.7

2026-05-05

OAAI

Poeya Haydarlou; Daria R. Kramarenko; Nobuyuki Enzan; Marie Klevjer; Oliver B. Vad; Marre E. Corver; Dominic S. Zimmerman; Koichi Matsuda; Søren Z. Diederichsen; Anja Bye; Jesper H. Svendsen; Kaoru Ito; Patrick T. Ellinor; Connie R. Bezzina; Sean J. Jurgens

Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement 当代J波综合征的观点：专家共识声明

Journal of Arrhythmia

IF1.7

2026-02-01

OAAI

Nademanee, Koonlawee; Wilde, Arthur A.; Ackerman, Michael J.; R. Behr, Elijah; Bezzina, Connie R.; Chen, Peng-Sheng; Chung, Fa Po; Coronel, Ruben; Haissaguerre, Michel; Jiang, Chenyang; Juang, Jyh-Ming Jimmy; Khongphatthanayothin, Apichai; Makita, Naomasa; Morita, Hiroshi; Nakagawa, Hiroshi; Ngarmukos, Tachapong; Nogami, Akihiko; Pappone, Carlo; Priori, Silvia G.; Rosso, Raphael; Shimizu, Wataru; Veerakul, Gumpanart; Viskin, Sami

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects NOTCH1基因变异的DNA甲基化分析揭示了非综合征性先天性心脏病的第一种表观遗传标志物

Genome Medicine

IF11.2

2026-01-07

OAAI

Gregor Dombrowsky; Liselot van der Laan; Ananília Silva; Jeroen Breckpot; Enrique Audain; Anna Wilsdon; Michael A. Levy; Niels Vos; Marcel Mannens; Jiao Wang; Anjali Jain; Robert Lesurf; David Winlaw; Connie R. Bezzina; Mary Ann Thomas; Almuth Caliebe; Sabine Klaassen; Felix Berger; Sven Dittrich; Brigitte Stiller; Hashim Abdul-Khaliq; Ingo Dähnert; Frances Bu’Lock; Siobhan Loughna; J. David Brook; Seema Mital; Robert B. Russell; Thomas Pickardt; Ulrike Bauer; Hans-Heiner Kramer; Anselm Uebing; Peter Henneman; Bekim Sadikovic; Alex Postma; Marc-Phillip Hitz

Author's reply to New-onset atrial fibrillation and history of ischemia-induced ventricular fibrillation indicate arrhythmic vulnerability during ST-elevation myocardial infarction 作者回复：新发心房颤动和缺血性室性颤动病史表明ST段抬高型心肌梗死期间存在心律失常易损性

Heart Rhythm

IF5.7

2025-11-19

PREAI

Peder Emil Warming; Charlotte Glinge; Veronica Dusi; Reza Jabbari; Niels Kjær Stampe; Hanno L. Tan; Connie R. Bezzina; Lia Crotti; Gaetano Maria De Ferrari; Thomas Engstrøm; Peter J. Schwartz; Arthur A.M. Wilde; Jacob Tfelt-Hansen

Rare and common variant drivers of ischemic cardiomyopathy

European Heart Journal

IF35.6

2025-11-05

OAAI

K Supriami; A Zheng; K J Biddinger; S J Jurgens; L Wijdeveld; J T Ramo; P Natarajan; C R Bezzina; J E Huffman; P T Ellinor; A C Fahed; K G Aragam

Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome 自动化膜片钳数据改善了SCN5A-Brugada综合征的变异分类和表现度分层。

EUROPEAN HEART JOURNAL

IF35.6

2025-11-01

PREAI

O'neill, Matthew J.; Ma, Joanne G.; Aldridge, Jessa L.; Solus, Joseph F.; Harvey, Genevieve R.; Roberson, Paige H.; Barc, Julien; Bezzina, Connie R.; Roden, Dan M.; Walsh, Roddy; Vandenberg, Jamie, I; Glazer, Andrew M.; Ng, Chai-Ann

Genetic modifiers and ascertainment drive variable expressivity of complex disorders 遗传修饰因子和病例发现方式驱动复杂疾病的表型可变性

Cell

IF42.5

2025-10-07

OAAI

Matthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan

Genetic analyses across cardiovascular traits: leveraging genetic correlations to empower locus discovery and prediction in common cardiovascular diseases 心血管性状的遗传分析：利用遗传相关性增强常见心血管疾病的基因位点发现和预测

npj Genomic Medicine

IF4.8

2025-09-29

OAAI

Paloma Jordà; Yiwei Lai; Amélie Jeuken; Louis-Philippe Lemieux Perreault; Elisabeth Goulet; Najim Lahrouchi; Anna Nozza; Michael W. Tanck; Peter Guerra; Julia Cadrin-Tourigny; Simon de Denus; Connie R. Bezzina; Guillaume Lettre; David Busseuil; Marie-Pierre Dubé; Jean-Claude Tardif; Rafik Tadros

Risk factors associated with ventricular fibrillation during first ST-elevation myocardial infarction: Individual participant data analysis of 3 prospective case-control studies 与首次ST段抬高型心肌梗死期间室性颤动相关的危险因素：3项前瞻性病例对照研究的个体参与者数据分析

Heart Rhythm

IF5.7

2025-08-08

PREAI

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy POPDC2基因的杂合变异导致一种常染色体隐性综合征，其表现为心脏传导缺陷和肥厚型心肌病。

american journal of human genetics

IF0

2025-05-22

OAAI

Michele Nicastro; Alexa M.C. Vermeer; Pieter G. Postema; Rafik Tadros; Forrest Z. Bowling; Hildur M. Aegisdottir; Vinicius Tragante; Lukas Mach; Alex V. Postma; Elisabeth M. Lodder; Karel van Duijvenboden; Rob Zwart; Leander Beekman; Lingshuang Wu; Sean J. Jurgens; Paul A. van der Zwaag; Mariëlle Alders; Mona Allouba; Yasmine Aguib; J. Luis Santome; David de Una; Lorenzo Monserrat; Antonio M.A. Miranda; Kazumasa Kanemaru; James Cranley; Ingeborg E. van Zeggeren; Eleonora M.A. Aronica; Michela Ripolone; Simona Zanotti; Gardar Sveinbjornsson; Erna V. Ivarsdottir; Hilma Hólm; Daníel F. Guðbjartsson; Ástrós Th. Skúladóttir; Kári Stefánsson; Lincoln Nadauld; Kirk U. Knowlton; Sisse Rye Ostrowski; Erik Sørensen; Ole Birger Vesterager Pedersen; Jonas Ghouse; Søren A. Rand; Henning Bundgaard; Henrik Ullum; Christian Erikstrup; Bitten Aagaard; Mie Topholm Bruun; Mette Christiansen; Henrik K. Jensen; Deanna Alexis Carere; Christopher T. Cummings; Kristen Fishler; Pernille Mathiesen Tørring; Klaus Brusgaard; Trine Maxel Juul; Lotte Saaby; Bo Gregers Winkel; Jens Mogensen; Francesco Fortunato; Giacomo Pietro Comi; Dario Ronchi; J. Peter van Tintelen; Michela Noseda; Michael V. Airola; Imke Christiaans; Arthur A.M. Wilde; Ronald Wilders; Sally-Ann Clur; Arie O. Verkerk; Connie R. Bezzina; Najim Lahrouchi

Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future 扩张型心肌病中的多基因风险评分：展望未来

CURRENT CARDIOLOGY REPORTS

IF3.3

2025-05-14

OAAI

Kramarenko, Daria R.; Jurgens, Sean J.; Pinto, Yigal M.; Bezzina, Connie R.; Amin, Ahmad S.

Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience (NOV, 10.1038/s41588-024-01975-5, 2024)全基因组关联研究揭示扩张型心肌病和心肌弹性的机制 (NOV，10.1038/s41588-024-01975-5，2024)

NATURE GENETICS

IF31.8

2024-12-04

OAAI

Jurgens, Sean J.; Raemoe, Joel T.; Kramarenko, Daria R.; Wijdeveld, Leonoor F. J. M.; Haas, Jan; Chaffin, Mark D.; Garnier, Sophie; Gaziano, Liam; Weng, Lu-Chen; Lipov, Alex; Zheng, Sean L.; Henry, Albert; Huffman, Jennifer E.; Challa, Saketh; Ruehle, Frank; Verdugo, Carmen Diaz; Juarez, Christian Krijger; Kany, Shinwan; van Orsouw, Constance A.; Biddinger, Kiran; Poel, Edwin; Elliott, Amanda L.; Wang, Xin; Francis, Catherine; Ruan, Richard; Koyama, Satoshi; Beekman, Leander; Zimmerman, Dominic S.; Deleuze, Jean-Francois; Villard, Eric; Tregouet, David-Alexandre; Isnard, Richard; Boomsma, Dorret I.; de Geus, Eco J. C.; Tadros, Rafik; Pinto, Yigal M.; Wilde, Arthur A. M.; Hottenga, Jouke-Jan; Sinisalo, Juha; Niiranen, Teemu; Walsh, Roddy; Schmidt, Amand F.; Choi, Seung Hoan; Chang, Kyong-Mi; Tsao, Philip S.; Matthews, Paul M.; Ware, James S.; Lumbers, R. Thomas; van der Crabben, Saskia; Laukkanen, Jari; Palotie, Aarno; Amin, Ahmad S.; Charron, Philippe; Meder, Benjamin; Ellinor, Patrick T.; Daly, Mark; Aragam, Krishna G.; Bezzina, Connie R.

Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience 全基因组关联研究揭示扩张型心肌病和心肌弹性的机制

NATURE GENETICS

IF31.8

2024-11-21

OAAI

Jurgens, Sean J.; Raemoe, Joel T.; Kramarenko, Daria R.; Wijdeveld, Leonoor F. J. M.; Haas, Jan; Chaffin, Mark D.; Garnier, Sophie; Gaziano, Liam; Weng, Lu-Chen; Lipov, Alex; Zheng, Sean L.; Henry, Albert; Huffman, Jennifer E.; Challa, Saketh; Ruehle, Frank; Verdugo, Carmen Diaz; Krijger Juarez, Christian; Kany, Shinwan; van Orsouw, Constance A.; Biddinger, Kiran; Poel, Edwin; Elliott, Amanda L.; Wang, Xin; Francis, Catherine; Ruan, Richard; Koyama, Satoshi; Beekman, Leander; Zimmerman, Dominic S.; Deleuze, Jean-Francois; Villard, Eric; Tregouet, David-Alexandre; Isnard, Richard; Boomsma, Dorret I.; de Geus, Eco J. C.; Tadros, Rafik; Pinto, Yigal M.; Wilde, Arthur A. M.; Hottenga, Jouke-Jan; Sinisalo, Juha; Niiranen, Teemu; Walsh, Roddy; Schmidt, Amand F.; Choi, Seung Hoan; Chang, Kyong-Mi; Tsao, Philip S.; Matthews, Paul M.; Ware, James S.; Lumbers, R. Thomas; van der Crabben, Saskia; Laukkanen, Jari; Palotie, Aarno; Amin, Ahmad S.; Charron, Philippe; Meder, Benjamin; Ellinor, Patrick T.; Daly, Mark; Aragam, Krishna G.; Bezzina, Connie R.

Associations of schizophrenia with arrhythmic disorders and electrocardiogram traits: genetic exploration of population samples

BRITISH JOURNAL OF PSYCHIATRY

IF7.6

2024-11-08

OAAI

Treur, Jorien L.; Thijssen, Anais B.; Smit, Dirk J. A.; Tadros, Rafik; Veeneman, Rada R.; Denys, Damiaan; Vermeulen, Jentien M.; Barc, Julien; Bergstedt, Jacob; Pasman, Joelle A.; Bezzina, Connie R.; Verweij, Karin J. H.

Genome-Wide Association Study of Accessory Atrioventricular Pathways 副房室通路的全基因组关联研究

JAMA CARDIOLOGY

IF14.1

2024-11-01

PREAI

Aegisdottir, Hildur M.; Andreasen, Laura; Thorolfsdottir, Rosa B.; Sveinbjornsson, Gardar; Jonsdottir, Andrea B.; Stefansdottir, Lilja; Thorleifsson, Gudmar; Sigurdsson, Asgeir; Halldorsson, Gisli H.; Barc, Julien; Simonet, Floriane; Tragante, Vinicius; Oddsson, Asmundur; Ferkingstad, Egil; Svendsen, Jesper Hastrup; Ghouse, Jonas; Ahlberg, Gustav; Paludan-Mueller, Christian; Hadji-Turdeghal, Katra; Bustamante, Mariana; Ulfarsson, Magnus O.; Helgadottir, Anna; Gretarsdottir, Solveig; Saevarsdottir, Saedis; Jonsdottir, Ingileif; Erikstrup, Christian; Ullum, Henrik; Sorensen, Erik; Brunak, Soren; Jons, Christian; Zheng, Chaoqun; Bezzina, Connie R.; Knowlton, Kirk U.; Nadauld, Lincoln D.; Sulem, Patrick; Ostrowski, Sisse R.; Pedersen, Ole B.; Arnar, David O.; Gudbjartsson, Daniel F.; Olesen, Morten S.; Bundgaard, Henning; Holm, Hilma; Stefansson, Kari

Investigating the role of WT1 in Brugada syndrome pathophysiology

EUROPEAN HEART JOURNAL

IF35.6

2024-10-28

PREAI

Marsman, E. M. J.; Bosada, F. M.; Offerhaus, J. A.; Beekman, L.; Wilde, L. M.; Casini, S.; Verkerk, A. O.; Wilde, A. A. M.; Boukens, B. J.; Remme, C. A.; Bezzina, C. R.

Utility of polygenic risk score for prediction of dilated cardiomyopathy and modulation of severity of LV dysfunction among cases 多基因风险评分对扩张型心肌病的预测和LV功能障碍严重程度的调节作用

EUROPEAN HEART JOURNAL

IF35.6

2024-10-28

PREAI

Kramarenko, D. R.; Jurgens, S. J.; Ramo, J. T.; Van Orsouw, C. A.; Hottenga, J. J.; Charron, P.; Meder, B.; Palotie, A.; Daly, M.; Ellinor, P. T.; Pinto, Y. M.; Aragam, K. G.; Van Der Crabben, S. N.; Amin, A. S.; Bezzina, C. R.

HEART RHYTHM

IF5.7

2024-09-01

OAAI

Bezzina, Connie; Lipov, Alex; Walsh, Roddy

Rare coding variant analysis for human diseases across biobanks and ancestries

NATURE GENETICS

IF31.8

2024-08-29

PREAI

Jurgens, Sean J.; Wang, Xin; Choi, Seung Hoan; Weng, Lu-Chen; Koyama, Satoshi; Pirruccello, James P.; Nguyen, Trang; Smadbeck, Patrick; Jang, Dongkeun; Chaffin, Mark; Walsh, Roddy; Roselli, Carolina; Elliott, Amanda L.; Wijdeveld, Leonoor F. J. M.; Biddinger, Kiran J.; Kany, Shinwan; Ramo, Joel T.; Natarajan, Pradeep; Aragam, Krishna G.; Flannick, Jason; Burtt, Noel P.; Bezzina, Connie R.; Lubitz, Steven A.; Lunetta, Kathryn L.; Ellinor, Patrick T.

研究方向