Connie R Bezzina (Connie Bezzina, C R Bezzina)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 24

Top Topics

Hypertrophic Cardiomyopathy

Genome Wide Association

Top Venues

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

Nature genetics

Nature cardiovascular research

Circulation. Genomic and precision medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew Oetjens, Hermela Shimelis, Cora M Taylor, Vijay Kumar Pounraja, Hyebin Song, Laura Rohan, Emily Huber, L Allach El Khattabi, Ingrid M B H van de Laar, Rafik Tadros, Connie R Bezzina, Marjon van Slegtenhorst, Janneke A E Kammeraad, Paolo Prontera, Jean-Hubert Caberg, Harry Fraser, Siddhartha 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 Currò, Alessandra Renieri, Boris Keren, Perrine Charles, Silvestre Cuinat, Mathilde Nizon, Olivier Pichon, Claire Beneteau, Radka Stoeva, Dominique Martin-Coignard, Sophia Blesson, Cedric Le Caignec, Sandra Mercier, Marie Vincent, Christa Lese Martin, Katrin Mannik, Alexandre Reymond, Laurence Olivier-Faivre, Erik A Sistermans, R Frank Kooy, David J Amor, Corrado Romano, Joris Andrieux, Santhosh D Girirajan
Genetic modifiers and ascertainment drive variable expressivity of complex disorders. medRxiv : the preprint server for health sciences (2024)
Bastiaan J Boukens, Arie O Verkerk, Connie R Bezzina
Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome. Nature cardiovascular research 3 (1) (2024)
Gerard A Marchal, Mathilde R Rivaud, Rianne Wolswinkel, Cristina Basso, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 26 (6) (2024)
Gerard A Marchal, Mathilde R Rivaud, Rianne Wolswinkel, Cristina Basso, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology (2024)
Gerard A Marchal, Mathilde R Rivaud, Rianne Wolswinkel, Cristina Basso, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 26 (6) (2024)
Sean Joseph Jurgens, Xin Wang, Seung Hoan Choi, Lu-Chen Wang, Satoshi Koyama, James Paul Pirruccello, Trang T Nguyen, Patrick Smadbeck, Dongkeun Jang, Mark D Chaffin, Roddy Walsh, Carolina Roselli, Amanda L Elliott, Leonoor F J M Wijdeveld, Kiran J Biddinger, Shinwan Kany, Joel T Rämö, Pradeep Natarajan, Krishna G Aragam, Jason Flannick, Noël P Burtt, Connie R Bezzina, Steven A Lubitz, Kathryn L Lunetta, Patrick T Ellinor
Rare coding variant analysis for human diseases across biobanks and ancestries. Nature genetics (2024)
Bastiaan J Boukens, Arie O Verkerk, Connie R Bezzina
Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome. Nature cardiovascular research 3 (1) (2024)
Gerard A Marchal, Mathilde R Rivaud, Rianne Wolswinkel, Cristina Basso, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Genetic background determines the severity of age-dependent cardiac structural abnormalities and arrhythmia susceptibility in Scn5a-1798insD mice. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 26 (6) (2024)
Lara Curran, Antonio de Marvao, Paolo Inglese, Kathryn Anne McGurk, Pierre-Raphaël Schiratti, Adam Clement, Sean L Zheng, Surui Li, Chee Jian Pua, Mit Shah, Mina Jafari, Pantazis I Theotokis, Rachel J Buchan, Sean Joseph Jurgens, Claire E Raphael, Arun John Baksi, Antonis Pantazis, Brian P Halliday, Dudley John Pennell, Wenjia Bai, Calvin Woon-Loong Chin, Rafik Tadros, Connie R Bezzina, Hugh C Watkins, Stuart Alexander Cook, Sanjay K Prasad, James Simon Ware, Declan P O'Regan
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy. Circulation. Genomic and precision medicine (2023)
R R Veeneman, Jentien M Vermeulen, M Bialas, A K Bhamidipati, Abdel Abdellaoui, Marcus R Munafo, Damiaan A J P Denys, Connie R Bezzina, Karin J H Verweij, Rafik Tadros, Jorien L Treur
Mental illness and cardiovascular health: observational and polygenic score analyses in a population-based cohort study. Psychological medicine (2023)
Alex Lipov, Sean Joseph Jurgens, Francesco Mazzarotto, Mona Allouba, James Paul Pirruccello, Yasmine Aguib, Massimo Gennarelli, Magdi H Yacoub, Patrick T Ellinor, Connie R Bezzina, Roddy Walsh
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies. Nature cardiovascular research 2 (11) (2023)
Alex Lipov, Sean Joseph Jurgens, Francesco Mazzarotto, Mona Allouba, James Paul Pirruccello, Yasmine Aguib, Massimo Gennarelli, Magdi H Yacoub, Patrick T Ellinor, Connie R Bezzina, Roddy Walsh
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies. Nature cardiovascular research 2 (11) (2023)
David Y Chiang, Arjan C Houweling, Rachelle Victorio, Boris I Shneyer, Babet van der Vaart, Mariam Jouni, Nakul Narendran, Ashmita Kc, James R Sampognaro, Franki Vetrano-Olsen, John S Oh, Eva Buys, Berend de Jonge, Disheet A Shah, Tuomas O Kiviniemi, Maged M Costantine, Connie R Bezzina, Anna Akhmanova, Calum A MacRae
The Role of MAPRE2 and Microtubules in Maintaining Normal Ventricular Conduction. Circulation research (2023)
Caroline Pham, Karolina Andrzejczyk, Sean Joseph Jurgens, Ronald H Lekanne Deprez, Kaylin C A Palm, Alexa M C Vermeer, Janneke Nijman, Imke Christiaans, Pascal F H M van Dessel, Leander Beekman, Seung Hoan Choi, Steven A Lubitz, Doris Skoric-Milosavljevic, Lisa M van den Bersselaar, Philip R Jansen, Jaël S Copier, Patrick T Ellinor, Arthur A M Wilde, Connie R Bezzina, Elisabeth M Lodder
Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias. Circulation. Genomic and precision medicine (2023)
Elena Arbelo, Alexandros Protonotarios, Juan Ramon Gimeno-Blanes, Arbustini Eloisa, Roberto Barriales Villa, Cristina Basso, Connie R Bezzina, Elena Biagini, Nico A Blom, Rudolf A de Boer, Tim De Winter, Perry Mark Elliott, Marcus D Flather, Pablo García-Pavía, Kristina Hermann Haugaa, Jodie Ingles, Ruxandra Oana Jurcut, Sabine Klaassen, Giuseppe Limongelli, Bart L Loeys, Jens Mogensen, Iacopo Olivotto, Antonis Pantazis, Sanjay Sharma, van J Peter Tintelen, James Simon Ware, Juan Pablo Pablo Kaski, null null
2023 ESC Guidelines for the management of cardiomyopathies. European heart journal (2023)
Roddy Walsh, Connie R Bezzina, Arthur A M Wilde
First Steps of Population Genomic Medicine in the Arrhythmia World: Pros and Cons. Circulation 145 (12) (2022)
Giulia Campostrini, Georgios Kosmidis, Dorien Ward-van Oostwaard, Richard P Davis, Loukia Yiangou, Daniele Ottaviani, Christiaan C Veerman, Hailiang Mei, Valeria V Orlova, Arthur A M Wilde, Connie R Bezzina, Arjan C Houweling, Christine L Mummery, Milena Bellin
Maturation of hiPSC-derived cardiomyocytes promotes adult alternative splicing of SCN5A and reveals changes in sodium current associated with cardiac arrhythmia. Cardiovascular research (2022)
Julien Barc, Rafik Tadros, Charlotte Glinge, David Y Chiang, Mariam Jouni, Floriane Simonet, Sean Joseph Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A Offerhaus, Roddy Walsh, Seung Hoan Choi, Arjan C Houweling, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela Francesca Giachino, Natascia Cerrato, Raphaël P Martins, Òscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B Shoemaker, Bas J Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nuraysid, null null, Jan Herman Veldink, Leonard H van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stephane Bezieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E Odening, Marina Cerrone, Larry A Chinitz, Paul G Volders, Maarten P van den Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D Roberts, Laurence Jesel, Martin Borggrefe, Pier D Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G Priori, Carlo Napolitano, null null, Carlos De Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R Gimeno, Can Hasdemir, Peter J Schwartz, Lia Crotti, Pascal P McKeown, Sanjay Sharma, Elijah R Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L Tan, Carol A Remme, Pieter G Postema, Mario Delmar, Patrick T Ellinor, Steven A Lubitz, Jean-Baptiste Gourraud, Michael W T Tanck, Alfred L George, Calum A MacRae, Maged M Costantine, Christian Dina, Vincent Probst, Arthur A Wilde, Jean-Jacques Schott, Richard Redon, Connie R Bezzina
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility. Nature genetics 54 (3) (2022)
Andrew R Harper, Anuj Goel, Christopher Grace, Kate L Thomson, Steffen Erhard Petersen, Xiao Xu, Adam Waring, Elizabeth Ormondroyd, Christopher M Kramer, Carolyn Y Ho, Stefan Neubauer, null null, Rafik Tadros, James Simon Ware, Connie R Bezzina, Martin Farrall, Hugh C Watkins
Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity. Nature genetics 53 (2) (2021)
Doris Skoric-Milosavljevic, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik van Weerd, Odilia Ilse Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell, A J Agopian, Gillian M Blue, Daniela Qcm Barge-Schaapveld, Stephen Brown, Christoph Preuss, Elisabeth M Lodder, Phil Barnett, Aho Ilgun, Leander Beekman, Karel van Duijvenboden, Regina Bokenkamp, Martina Müller-Nuraysid, Hubert W Vliegen, Thelma C Konings, Joost P van Melle, Arie van Dijk, Roland Rj van Kimmenade, Jolien W Roos-Hesselink, Gertjan Sieswerda, Folkert Meijboom, Hashim Abdul-Khaliq, Felix Berger, Sven Dittrich, Marc-Phillip Hitz, Julia Moosmann, Frank-Thomas Riede, Stephan Schubert, Pilar Galan, G Mark Lathrop, Hans Markus Munter, Ammar Al Chalabi, Christopher E Shaw, Pamela J Shaw, Karen E Morrison, Jan Herman Veldink, Leonard H van den Berg, Sylvia M Evans, Marcelo Aguiar Nobrega, Ivy Aneas, Milena Radivojkov-Blagojevic, Thomas Meitinger, Erwin Oechslin, Tapas Mondal, M Lynn Bergin, John F Smythe, Luis Altamirano-Diaz, Jane Lougheed, Berto Jorrit Bouma, Marie-A Chaix, Jennie Kline, Anne Susan Bassett, Gregor U Andelfinger, Roel L F van der Palen, Patrice Bouvagnet, Sally-Ann B Clur, Jeroen Breckpot, Wilhelmina S Kerstjens-Frederikse, David S Winlaw, Ulrike Bauer, Seema Mital, Elizabeth Goldmuntz, Bernard D Keavney, Damien Bonnet, Barbara J Mulder, Michael W T Tanck, Jeroen Bakkers, Vincent M Christoffels, Cornelis J Boogerd, Alex V Postma, Connie R Bezzina
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries. Circulation research (2021)
Rafik Tadros, Catherine Francis, Xiao Xu, Alexa M C Vermeer, Andrew R Harper, Roy Huurman, Ken Kelu Bisabu, Roddy Walsh, Edgar T Hoorntje, Wouter P Te Rijdt, Rachel J Buchan, Hannah G van Velzen, Marjon A van Slegtenhorst, Jentien M Vermeulen, Joost Allard Offerhaus, Wenjia Bai, Antonio de Marvao, Najim Lahrouchi, Leander Beekman, Jacco C Karper, Jan Herman Veldink, Elham Kayvanpour, Antonis Pantazis, A John Baksi, Nicola Whiffin, Francesco Mazzarotto, Geraldine Sloane, Hideaki Suzuki, Deborah Schneider-Luftman, Paul Elliott, Pascale Richard, Flavie Ader, Eric Villard, Peter Lichtner, Thomas Meitinger, Michael W T Tanck, van J Peter Tintelen, Andrew Thain, David McCarty, Robert A Hegele, Jason D Roberts, Julie Amyot, Marie-Pierre Dubé, Julia Cadrin-Tourigny, Geneviève Giraldeau, Philippe L L'Allier, Patrick Garceau, Jean-Claude Tardif, S Matthijs Boekholdt, R Thomas Lumbers, Folkert W. Asselbergs, Paul J R Barton, Stuart A Cook, Sanjay K Prasad, Declan P O'Regan, Jolanda van der Velden, Karin J H Verweij, Mario Talajic, Guillaume Lettre, Yigal M Pinto, Benjamin Meder, Philippe Charron, Rudolf A de Boer, Imke Christiaans, Michelle Michels, Arthur A M Wilde, Hugh C Watkins, Paul M Matthews, James Simon Ware, Connie R Bezzina
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nature genetics 53 (2) (2021)
Roddy Walsh, Connie R Bezzina
ALPK3: a full spectrum cardiomyopathy gene? European heart journal 42 (32) (2021)
Markus Krane, Martina Dreßen, Gianluca Santamaria, Ilaria My, Christine M Schneider, Tatjana Dorn, Svenja Laue, Elisa Mastantuono, Riccardo Berutti, Hilansi Rawat, Ralf Gilsbach, Pedro Schneider, Harald Lahm, Sascha Schwarz, Stefanie A Doppler, Sharon L Paige, Nazan Puluca, Sophia Doll, Irina Neb, Thomas Brade, Zhong Zhang, Claudia Abou-Ajram, Bernd H Northoff, Lesca M Holdt, Stefanie Sudhop, Makoto Sahara, Alexander Goedel, Andreas Dendorfer, Fleur V Y Tjong, Maria E Rijlaarsdam, Julie Cleuziou, Nora Lang, Christian Kupatt, Connie R Bezzina, Rüdiger Lange, Neil E Bowles, Matthias Mann, Bruce D Gelb, Lia Crotti, Lutz Hein, Thomas Meitinger, Sean M Wu, Daniel Sinnecker, Peter J Gruber, Karl-Ludwig Laugwitz, Alessandra Moretti
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome. Circulation 144 (17) (2021)
Christiaan C Veerman, Isabella Mengarelli, Charlotte D Koopman, Ronald Wilders, Shirley C van Amersfoorth, Diane Bakker, Rianne Wolswinkel, Mariam Hababa, Teun P de Boer, Kaomei Guan, James Milnes, Elisabeth M Lodder, Jeroen Bakkers, Arie O Verkerk, Connie R Bezzina
Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (I K,ACh). Disease models & mechanisms 12 (7) (2019)