• Principal Investigator
  • Female

Prof. dr. C.R. Bezzina

Position: Professor
Main activities: Research
Specialisation: Genetics of cardiac disorders
foto C.R. Bezzina is one of the AMC Principal Investigators
Focus of research:

Our group conducts translational research aimed at identifiying genetic risk factors underlying cardiac disorders. Our research focuses on:

- Inherited disorders associated with increased risk of sudden cardiac death in young individuals. This includes the primary electrical disorders (e.g. the Long QT Syndrome, cardiac conduction disease and Brugada Syndrome) and the cardiomyopathies (e.g. hypertrophic cardiomyopathy).

- Risk of sudden cardiac death in the setting of acquired cardiac disease, namely ventricular fibrillation in the setting of acute myocardial ischemia or infarction.

- Congenital heart disease.

 

Besides efforts related to gene discovery, we also conduct functional studies in experimental model systems (e.g., transgenic mice, cardiomyocytes derived from induced pluripotent stem cells) on newly-identified genes or mutations. This allows us to gain insight into the involvement of the given gene or mutation into the pathophysiological mechanism underlying the diseases.

 

In our research we use amongst others the following tools:

Exome sequencing

Genomewide association studies

Expression QTL studies

Transgenesis

Electrophysiological studies (e.g. patch-clamp, optical mapping)
 

AMC themes: Cardiovascular Diseases
Departments: Cardiology
Adadi N, Lahrouchi N, Bouhouch R, Fellat I, Amri R, Alders M, Sefiani A, Bezzina C, Ratbi I, Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report. J MED CASE REPORTS 2017;11 (1):88 [PubMed]
Heinig M, Adriaens ME, Schafer S, van Deutekom HWM, Lodder EM, Ware JS, Schneider V, Felkin LE, Creemers EE, Meder B, Katus HA, Rühle F, Stoll M, Cambien F, Villard E, Charron P, Varro A, Bishopric NH, George AL Jr, Dos Remedios C, Moreno-Moral A, Pesce F, Bauerfeind A, Rüschendorf F, Rintisch C, Petretto E, Barton PJ, Cook SA, Pinto YM, Bezzina CR, Hubner N, Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy. GENOME BIOL 2017;18 (1):170 [PubMed]
Hoorntje ET, te Rijdt WP, James CA, Pilichou K, Basso C, Judge DP, Bezzina CR, van Tintelen JP, Arrhythmogenic cardiomyopathy: pathology, genetics, and concepts in pathogenesis. CARDIOVASC RES 2017;113 (12):1521-1531 [PubMed]
Jenewein T, Beckmann BM, Rose S, Osterhues HH, Schmidt U, Wolpert C, Miny P, Marschall C, Alders M, Bezzina CR, Wilde AAM, Kääb S, Kauferstein S, Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene. FORENSIC SCI INT 2017;275:187-194 [PubMed]
Lahrouchi N, Lodder EM, Mansouri M, Tadros R, Zniber L, Adadi N, Clur SAB, van Spaendonck-Zwarts KY, Postma AV, Sefiani A, Ratbi I, Bezzina CR, Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death. EUR J HUM GENET 2017;25 (6):783-787 [PubMed]
Lahrouchi N, Raju H, Lodder EM, Papatheodorou E, Ware JS, Papadakis M, Tadros R, Cole D, Skinner JR, Crawford J, Love DR, Pua CJ, Soh BY, Bhalshankar JD, Govind R, Tfelt-Hansen J, Winkel BG, van der Werf C, Wijeyeratne YD, Mellor G, Till J, Cohen MC, Tome-Esteban M, Sharma S, Wilde AAM, Cook SA, Bezzina CR, Sheppard MN, Behr ER, Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome. J AM COLL CARDIOL 2017;69 (17):2134-2145 [PubMed]
Lieve KV, Verkerk AO, Podliesna S, van der Werf C, Tanck MW, Hofman N, van Bergen PF, Beekman L, Bezzina CR, Wilde AAM, Lodder EM, Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation. INT J CARDIOL 2017;236:187-193 [PubMed]
Lodder EM, Verkerk AO, Bezzina CR, G-Protein beta Subunit Mutations in Sinus Node Dysfunction. CIRC RES 2017;120 (10):1524-1526 [PubMed]
Podliesna S, Bezzina CR, Lodder EM, Complex Genetics of Cardiovascular Traits in Mice: F2-Mapping of QTLs and Their Underlying Genes. METHODS MOL BIOL 2017;1488:431-454 [PubMed]
Portero V, Casini S, Hoekstra M , Verkerk AO, Mengarelli I, Belardinelli L, Rajamani S, Wilde AAM, Bezzina CR, Veldkamp MW, Remme CA, Anti-arrhythmic potential of the late sodium current inhibitor GS-458967 in murine Scn5a-1798insD(+/-) and human SCN5A-1795insD(+/-) iPSC-derived cardiomyocytes. CARDIOVASC RES 2017;113 (7):829-838 [PubMed]
Tadros R, Coronel R, Bezzina CR, Dissecting the Genetic Basis of the ECG as a Means of Understanding Mechanisms of Arrhythmia. CIRC-CARDIOVASC GENE 2017;10 (4):UNSP e001858 [PubMed]
te Riele ASJM, Agullo-Pascual E, James CA, Leo-Macias A, Cerrone M, Zhang M, Lin X, Lin B, Sobreira NL, Amat-Alarcon N, Marsman RF, Murray B, Tichnell C, van der Heijden JF, Dooijes D, van Veen TAB, Tandri H, Fowler SJ, Hauer RNW, Tomaselli G, van den Berg MP, Taylor MRG, Brun F, Sinagra G, Wilde AAM, Mestroni L, Bezzina CR, Calkins H, Peter van Tintelen J, Bu L, Delmar M, Judge DP, Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. CARDIOVASC RES 2017;113 (1):102-111 [PubMed]
Veerman CC. Inherited arrhythmia syndromes: From genotype to phenotype in hiPSC-derived cardiomyocytes. S.l.: s.n.; 2017. 244p. [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Bezzina CR, Wilde AAM; copromotor(s): Verkerk AO)
Veerman CC, Mengarelli I, Lodder EM, Kosmidis G, Bellin M, Zhang M, Dittmann S, Guan K, Wilde AAM, Schulze-Bahr E, Greber B, Bezzina CR, Verkerk AO, Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation. J AM HEART ASSOC 2017;6 (7):e005135 [PubMed]
Veerman CC, Podliesna S, Tadros R, Lodder EM, Mengarelli I, de Jonge B, Beekman L, Barc J, Wilders R, Wilde AAM, Boukens BJ, Coronel R, Verkerk AO, Remme CA, Bezzina CR, The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity. CIRC RES 2017;121 (5):537-548 [PubMed]
Veerman CC, Wilders R, Wilde AA, Coronel R, Remme CA, Verkerk AO, Bezzina CR, Response by Veerman et al to Letter Regarding Article, "The Brugada Syndrome Susceptibility Gene HEY2 Modulates Cardiac Transmural Ion Channel Patterning and Electrical Heterogeneity". CIRC RES 2017;121 (5):E21 [PubMed]
Verkerk AO, Veerman CC, Zegers JG, Mengarelli I, Bezzina CR, Wilders R, Patch-Clamp Recording from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Improving Action Potential Characteristics through Dynamic Clamp. INT J MOL SCI 2017;18 (9):1873 [PubMed]
Vermeer AM, Lodder EM, Christiaans I, van Langen IM, Wilde AA, Bezzina CR, Tadros R, Familial Disease Is Not Always Genetic: A Family With Atrioventricular Block and Mitral Regurgitation. CAN J CARDIOL 2017;33 (4):554.e9-554.e11 [PubMed]
Creemers EE, Bawazeer A, Ugalde AP, van Deutekom HWM, van der Made I, de Groot NE, Adriaens ME, Cook SA, Bezzina CR, Hubner N, van der Velden J, Elkon R, Agami R, Pinto YM, Genome-Wide Polyadenylation Maps Reveal Dynamic mRNA 3'-End Formation in the Failing Human Heart. CIRC RES 2016;118 (3):433-438 [PubMed]
Kosmidis G, Veerman CC, Casini S, Verkerk AO, van de Pas S, Bellin M, Wilde AAM, Mummery CL, Bezzina CR, Readthrough-Promoting Drugs Gentamicin and PTC124 Fail to Rescue Nav1.5 Function of Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes Carrying Nonsense Mutations in the Sodium Channel Gene SCN5A. CIRC-ARRHYTHMIA ELEC 2016;9 (11):e004227 [PubMed]
Lahrouchi N, Behr ER, Bezzina CR, Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases. FRONT CARDIOVASC MED 2016;3:13 [PubMed]
Lahrouchi N, Bezzina CR, Cardiac dyssynchrony and response to cardiac resynchronisation therapy in heart failure: can genetic predisposition play a role?. NETH HEART J 2016;24 (1):11-15 [PubMed]
Lodder EM, de Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M , Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G, GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. AM J HUM GENET 2016;99 (3):704-710 [PubMed]
Milano A, Blom MT, Lodder EM, van Hoeijen DA, Barc J, Koopmann TT, Bardai A, Beekman L, Lichtner P, van den Berg MP, Wilde AAM, Bezzina CR, Tan HL, Sudden Cardiac Arrest and Rare Genetic Variants in the Community. CIRC-CARDIOVASC GENE 2016;9 (2):147-153 [PubMed]
Mizusawa Y. Genetic and environmental factors in cardiac sodium channel disease. S.l.: s.n.; 2016. 280p. ISBN 978-94-6169-900-8 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wilde AAM, Bezzina CR; copromotor(s): Tan HL, Postema PG)
Nicod J, Davies RW, Cai N, Hassett C, Goodstadt L, Cosgrove C, Yee BK, Lionikaite V, McIntyre RE, Remme CA, Lodder EM, Gregory JS, Hough T, Joynson R, Phelps H, Nell B, Rowe C, Wood J, Walling A, Bopp N, Bhomra A, Hernandez-Pliego P, Callebert J, Aspden RM, Talbot NP, Robbins PA, Harrison M, Fray M, Launay JM, Pinto YM, Blizard DA, Bezzina CR, Adams DJ, Franken P, Weaver T, Wells S, Brown SDM, Potter PK, Klenerman P, Lionikas A, Mott R, Flint J, Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing. NAT GENET 2016;48 (8):912-918 [PubMed]
Postma AV, Bezzina CR, Christoffels VM, Genetics of congenital heart disease: the contribution of the noncoding regulatory genome. J HUM GENET 2016;61 (1):13-19 [PubMed]
van der Harst P, van Setten J, Verweij N, Vogler G, Franke L, Maurano MT, Wang X, Mateo Leach I, Eijgelsheim M, Sotoodehnia N, Hayward C, Sorice R, Meirelles O, Lyytikäinen LP, Polašek O, Tanaka T, Arking DE, Ulivi S, Trompet S, Müller-Nurasyid M, Smith AV, Dörr M, Kerr KF, Magnani JW, del Greco M F, Zhang W, Nolte IM, Silva CT, Padmanabhan S, Tragante V, Esko T, Abecasis GR, Adriaens ME, Andersen K, Barnett P, Bis JC, Bodmer R, Buckley BM, Campbell H, Cannon MV, Chakravarti A, Chen LY, Delitala A, Devereux RB, Doevendans PA, Dominiczak AF, Ferrucci L, Ford I, Gieger C, Harris TB, Haugen E, Heinig M, Hernandez DG, Hillege HL, Hirschhorn JN, Hofman A, Hubner N, Hwang SJ, Iorio A, Kähönen M, Kellis M, Kolcic I, Kooner IK, Kooner JS, Kors JA, Lakatta EG, Lage K, Launer LJ, Levy D, Lundby A, Macfarlane PW, May D, Meitinger T, Metspalu A, Nappo S, Naitza S, Neph S, Nord AS, Nutile T, Okin PM, Olsen JV, Oostra BA, Penninger JM, Pennacchio LA, Pers TH, Perz S, Peters A, Pinto YM, Pfeufer A, Pilia MG, Pramstaller PP, Prins BP, Raitakari OT, Raychaudhuri S, Rice KM, Rossin EJ, Rotter JI, Schafer S, Schlessinger D, Schmidt CO, Sehmi J, Silljé HHW, Sinagra G, Sinner MF, Slowikowski K, Soliman EZ, Spector TD, Spiering W, Stamatoyannopoulos JA, Stolk RP, Strauch K, Tan ST, Tarasov KV, Trinh B, Uitterlinden AG, van den Boogaard M, van Duijn CM, van Gilst WH, Viikari JS, Visscher PM, Vitart V, Völker U, Waldenberger M, Weichenberger CX, Westra HJ, Wijmenga C, Wolffenbuttel BH, Yang J, Bezzina CR, Munroe PB, Snieder H, Wright AF, Rudan I, Boyer LA, Asselbergs FW, van Veldhuisen DJ, Stricker BH, Psaty BM, Ciullo M, Sanna S, Lehtimäki T, Wilson JF, Bandinelli S, Alonso A, Gasparini P, Jukema JW, Kääb S, Gudnason V, Felix SB, Heckbert SR, de Boer RA, Newton-Cheh C, Hicks AA, Chambers JC, Jamshidi Y, Visel A, Christoffels VM, Isaacs A, Samani NJ, de Bakker PIW, 52 Genetic Loci Influencing Myocardial Mass. J AM COLL CARDIOL 2016;68 (13):1435-1448 [PubMed]
Veerman CC, Mengarelli I, Guan K, Stauske M, Barc J, Tan HL, Wilde AAM, Verkerk AO, Bezzina CR, hiPSC-derived cardiomyocytes from Brugada Syndrome patients without identified mutations do not exhibit clear cellular electrophysiological abnormalities. SCI REP-UK 2016;6:30967 [PubMed]
Vermeer AMC, Lodder EM, Thomas D, Duijkers FAM, Marcelis C, van Gorselen EOF, Fortner P, Buss SJ, Mereles D, Katus HA, Wilde AAM, Bezzina CR, Boekholdt SM, Schweizer PA, Christiaans I, Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations. J AM COLL CARDIOL 2016;67 (19):2313-2315 [PubMed]
Wilde AAM, Moss AJ, Kaufman ES, Shimizu W, Peterson DR, Benhorin J, Lopes C, Towbin JA, Spazzolini C, Crotti L, Zareba W, Goldenberg I, Kanters JK, Robinson JL, Qi M, Hofman N, Tester DJ, Bezzina CR, Alders M, Aiba T, Kamakura S, Miyamoto Y, Andrews ML, McNitt S, Polonsky B, Schwartz PJ, Ackerman MJ, Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study. CIRCULATION 2016;134 (12):872-882 [PubMed]
Yagihara N, Watanabe H, Barnett P, Duboscq-Bidot L, Thomas AC, Yang P, Ohno S, Hasegawa K, Kuwano R, Chatel S, Redon R, Schott JJ, Probst V, Koopmann TT, Bezzina CR, Wilde AAM, Nakano Y, Aiba T, Miyamoto Y, Kamakura S, Darbar D, Donahue BS, Shigemizu D, Tanaka T, Tsunoda T, Suda M, Sato A, Minamino T, Endo N, Shimizu W, Horie M, Roden DM, Makita N, Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes. J AM HEART ASSOC 2016;5 (9):e003644 [PubMed]
Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L, Jamshidi Y, Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study. CARDIOVASC RES 2015;106 (3):520-529 [PubMed]
Bezzina CR, Lahrouchi N, Priori SG, Genetics of sudden cardiac death. CIRC RES 2015;116 (12):1919-1936 [PubMed]
Kolder ICRM, Tanck MWT, Postema PG, Barc J, Sinner MF, Zumhagen S, Husemann A, Stallmeyer B, Koopmann TT, Hofman N, Pfeufer A, Lichtner P, Meitinger T, Beckmann BM, Myerburg RJ, Bishopric NH, Roden DM, Kääb S, Wilde AAM, Schott JJ, Schulze-Bahr E, Bezzina CR, Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2. CIRC-CARDIOVASC GENE 2015;8 (3):447-456 [PubMed]
Milano A. Understanding cardiac electrical phenotypes in the genomic era. S.l.: s.n.; 2015. 164p. ISBN 978-94-6295-104-4 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Bezzina CR; copromotor(s): Lodder EM)
Milano A, Lodder EM, Bezzina CR, TNNI3K in cardiovascular disease and prospects for therapy. J MOL CELL CARDIOL 2015;82:167-173 [PubMed]
Pazoki R. Subtle killers and sudden death: Genetic variants modulating ventricular fibrillation in the setting of myocardial infarction. S.l.: s.n.; 2015. 180p. ISBN 978-94-6169-631-1 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Bezzina CR, Wilde AAM; copromotor(s): Tanck MWT)
Scicluna BP, Remme CA, Rivaud M, Wilde AAM, Bezzina CR, Verkerk AO, Chemokine ligand 9 modulates cardiac repolarization via Cxcr3 receptor binding. INT J CARDIOL 2015;201:49-52 [PubMed]
Arking DE, Pulit SL, Crotti L, van der Harst P, Munroe PB, Koopmann TT, Sotoodehnia N, Rossin EJ, Morley M, Wang X, Johnson AD, Lundby A, Gudbjartsson DF, Noseworthy PA, Eijgelsheim M, Bradford Y, Tarasov KV, Dörr M, Müller-Nurasyid M, Lahtinen AM, Nolte IM, Smith AV, Bis JC, Isaacs A, Newhouse SJ, Evans DS, Post WS, Waggott D, Lyytikäinen LP, Hicks AA, Eisele L, Ellinghaus D, Hayward C, Navarro P, Ulivi S, Tanaka T, Tester DJ, Chatel S, Gustafsson S, Kumari M, Morris RW, Naluai ÅT, Padmanabhan S, Kluttig A, Strohmer B, Panayiotou AG, Torres M, Knoflach M, Hubacek JA, Slowikowski K, Raychaudhuri S, Kumar RD, Harris TB, Launer LJ, Shuldiner AR, Alonso A, Bader JS, Ehret G, Huang H, Kao WHL, Strait JB, Macfarlane PW, Brown M, Caulfield MJ, Samani NJ, Kronenberg F, Willeit J, Smith JG, Greiser KH, Meyer zu Schwabedissen H, Werdan K, Carella M, Zelante L, Heckbert SR, Psaty BM, Rotter JI, Kolcic I, Polašek O, Wright AF, Griffin M, Daly MJ, Arnar DO, Hólm H, Thorsteinsdottir U, Denny JC, Roden DM, Zuvich RL, Emilsson V, Plump AS, Larson MG, O'Donnell CJ, Yin X, Bobbo M, D'Adamo AP, Iorio A, Sinagra G, Carracedo A, Cummings SR, Nalls MA, Jula A, Kontula KK, Marjamaa A, Oikarinen L, Perola M, Porthan K, Erbel R, Hoffmann P, Jöckel KH, Kälsch H, Nöthen MM, den Hoed M, Loos RJF, Thelle DS, Gieger C, Meitinger T, Perz S, Peters A, Prucha H, Sinner MF, Waldenberger M, de Boer RA, Franke L, van der Vleuten PA, Beckmann BM, Martens E, Bardai A, Hofman N, Wilde AAM, Behr ER, Dalageorgou C, Giudicessi JR, Medeiros-Domingo A, Barc J, Kyndt F, Probst V, Ghidoni A, Insolia R, Hamilton RM, Scherer SW, Brandimarto J, Margulies K, Moravec CE, del Greco M F, Fuchsberger C, O'Connell JR, Lee WK, Watt GCM, Campbell H, Wild SH, El Mokhtari NE, Frey N, Asselbergs FW, Mateo Leach I, Navis G, van den Berg MP, van Veldhuisen DJ, Kellis M, Krijthe BP, Franco OH, Hofman A, Kors JA, Uitterlinden AG, Witteman JCM, Kedenko L, Lamina C, Oostra BA, Abecasis GR, Lakatta EG, Mulas A, Orrú M, Schlessinger D, Uda M, Markus MRP, Völker U, Snieder H, Spector TD, Ärnlöv J, Lind L, Sundström J, Syvänen AC, Kivimaki M, Kähönen M, Mononen N, Raitakari OT, Viikari JS, Adamkova V, Kiechl S, Brion M, Nicolaides AN, Paulweber B, Haerting J, Dominiczak AF, Nyberg F, Whincup PH, Hingorani AD, Schott JJ, Bezzina CR, Ingelsson E, Ferrucci L, Gasparini P, Wilson JF, Rudan I, Franke A, Mühleisen TW, Pramstaller PP, Lehtimäki TJ, Paterson AD, Parsa A, Liu Y, van Duijn CM, Siscovick DS, Gudnason V, Jamshidi Y, Salomaa V, Felix SB, Sanna S, Ritchie MD, Stricker BH, Stefansson K, Boyer LA, Cappola TP, Olsen JV, Lage K, Schwartz PJ, Kääb S, Chakravarti A, Ackerman MJ, Pfeufer A, de Bakker PIW, Newton-Cheh C, Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. NAT GENET 2014;46 (8):826-836 [PubMed]
Bezzina CR, Common genetic variation and risk for sudden cardiac death in acquired cardiac disease. HEART RHYTHM 2014;11 (4):653-654 [PubMed]
Koopmann TT, Adriaens ME, Moerland PD, Marsman RF, Westerveld ML, Lal S, Zhang T, Simmons CQ, Baczko I, Dos Remedios C, Bishopric NH, Varro A, George AL Jr, Lodder EM, Bezzina CR, Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart. PLOS ONE 2014;9 (5):e97380 [PubMed]
Lodder EM, Bezzina CR, Genomics of cardiac electrical function. BRIEF FUNCT GENOMICS 2014;13 (1):39-50 [PubMed]
Lodder EM, Scicluna BP, Beekman L, Arends D, Moerland PD, Tanck MWT, Adriaens ME, Bezzina CR, Integrative genomic approach identifies multiple genes involved in cardiac collagen deposition. CIRC-CARDIOVASC GENE 2014;7 (6):790-798 [PubMed]
Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiyan ZA, Wilde AAM, Bezzina CR, A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J AM COLL CARDIOL 2014;63 (3):259-266 [PubMed]
Marsman RFJ. Genetic risk factors for common and rare cardiac rhythm disorders. s.l.: s.n.; 2014. 264p. ISBN 9789461086068 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Bezzina CR, Wilde AAM; copromotor(s): Barnett P, Remme CA)
Marsman RFJ, Bezzina CR, Freiberg F, Verkerk AO, Adriaens ME, Podliesna S, Chen C, Purfürst B, Spallek B, Koopmann TT, Baczko I, dos Remedios CG, George AL Jr, Bishopric NH, Lodder EM, de Bakker JMT, Fischer R, Coronel R, Wilde AAM, Gotthardt M, Remme CA, Coxsackie and Adenovirus Receptor Is a Modifier of Cardiac Conduction and Arrhythmia Vulnerability in the Setting of Myocardial Ischemia. J AM COLL CARDIOL 2014;63 (6):549-559 [PubMed]
Marsman RF, Tan HL, Bezzina CR, Genetics of sudden cardiac death caused by ventricular arrhythmias. NAT REV CARDIOL 2014;11 (2):96-111 [PubMed]
Milano A, Vermeer AMC, Lodder EM, Barc J, Verkerk AO, Postma AV, van der Bilt IAC, Baars MJH, van Haelst PL, Caliskan K, Hoedemaekers YM, Le Scouarnec S, Redon R, Pinto YM, Christiaans I, Wilde AA, Bezzina CR, HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. J AM COLL CARDIOL 2014;64 (8):745-756 [PubMed]
Mizusawa Y, Bezzina CR, Early repolarization pattern: its ECG characteristics, arrhythmogeneity and heritability. J INTERV CARD ELECTR 2014;39 (3):185-192 [PubMed]
Shy D, Gillet L, Ogrodnik J, Albesa M, Verkerk AO, Wolswinkel R, Rougier JS, Barc J, Essers MC, Syam N, Marsman RF, van Mil AM, Rotman S, Redon R, Bezzina CR, Remme CA, Abriel H, PDZ domain-binding motif regulates cardiomyocyte compartment-specific NaV1.5 channel expression and function. CIRCULATION 2014;130 (2):147-160 [PubMed]
Tragante V, Barnes MR, Ganesh SK, Lanktree MB, Guo W, Franceschini N, Smith EN, Johnson T, Holmes MV, Padmanabhan S, Karczewski KJ, Almoguera B, Barnard J, Baumert J, Chang YPC, Elbers CC, Farrall M, Fischer ME, Gaunt TR, Gho JMIH, Gieger C, Goel A, Gong Y, Isaacs A, Kleber ME, Mateo Leach I, McDonough CW, Meijs MFL, Melander O, Nelson CP, Nolte IM, Pankratz N, Price TS, Shaffer J, Shah S, Tomaszewski M, van der Most PJ, van Iperen EPA, Vonk JM, Witkowska K, Wong COL, Zhang L, Beitelshees AL, Berenson GS, Bhatt DL, Brown M, Burt A, Cooper-DeHoff RM, Connell JM, Cruickshanks KJ, Curtis SP, Davey-Smith G, Delles C, Gansevoort RT, Guo X, Haiqing S, Hastie CE, Hofker MH, Hovingh GK, Kim DS, Kirkland SA, Klein BE, Klein R, Li YR, Maiwald S, Newton-Cheh C, O'Brien ET, Onland-Moret NC, Palmas W, Parsa A, Penninx BW, Pettinger M, Vasan RS, Ranchalis JE, M Ridker P, Rose LM, Sever P, Shimbo D, Steele L, Stolk RP, Thorand B, Trip MD, van Duijn CM, Verschuren WM, Wijmenga C, Wyatt S, Young JH, Zwinderman AH, Bezzina CR, Boerwinkle E, Casas JP, Caulfield MJ, Chakravarti A, Chasman DI, Davidson KW, Doevendans PA, Dominiczak AF, FitzGerald GA, Gums JG, Fornage M, Hakonarson H, Halder I, Hillege HL, Illig T, Jarvik GP, Johnson JA, Kastelein JJP, Koenig W, Kumari M, März W, Murray SS, O'Connell JR, Oldehinkel AJ, Pankow JS, Rader DJ, Redline S, Reilly MP, Schadt EE, Kottke-Marchant K, Snieder H, Snyder M, Stanton AV, Tobin MD, Uitterlinden AG, van der Harst P, van der Schouw YT, Samani NJ, Watkins H, Johnson AD, Reiner AP, Zhu X, de Bakker PIW, Levy D, Asselbergs FW, Munroe PB, Keating BJ, Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. AM J HUM GENET 2014;94 (3):349-360 [PubMed]
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Bardai A, Amin AS, Blom MT, Bezzina CR, Berdowski J, Langendijk PNJ, Beekman L, Klemens CA, Souverein PC, Koster RW, de Boer A, Tan HL, Sudden cardiac arrest associated with use of a non-cardiac drug that reduces cardiac excitability: evidence from bench, bedside, and community. EUR HEART J 2013;34 (20):1506-1516 [PubMed]
Behr ER, Ritchie MD, Tanaka T, Kääb S, Crawford DC, Nicoletti P, Floratos A, Sinner MF, Kannankeril PJ, Wilde AAM, Bezzina CR, Schulze-Bahr E, Zumhagen S, Guicheney P, Bishopric NH, Marshall V, Shakir S, Dalageorgou C, Bevan S, Jamshidi Y, Bastiaenen R, Myerburg RJ, Schott JJ, Camm AJ, Steinbeck G, Norris K, Altman RB, Tatonetti NP, Jeffery S, Kubo M, Nakamura Y, Shen Y, George AL Jr, Roden DM, Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes. PLOS ONE 2013;8 (11):e78511 [PubMed]
Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R, Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. NAT GENET 2013;45 (9):1044-1049 [PubMed]
Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R, Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. NAT GENET 2013;45 (11):1409 [PubMed]
Boukens BJ, Sylva M, de Gier-de Vries C, Remme CA, Bezzina CR, Christoffels VM, Coronel R, Reduced sodium channel function unmasks residual embryonic slow conduction in the adult right ventricular outflow tract. CIRC RES 2013;113 (2):137-141 [PubMed]
Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AFM, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, Dos Remedios C, Bishopric NH, Bezzina CR, O'Sullivan J, Gewillig M, Bu'lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJM, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD, Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. NAT GENET 2013;45 (7):822-824 [PubMed]
de Jong JSSG. Susceptibility to ischemic ventricular fibrillation. s.l.: s.n.; 2013. 166p. ISBN 9789461084170 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wilde AAM; copromotor(s): Dekker LRC, Bezzina CR)
Guo Y, Lanktree MB, Taylor KC, Hakonarson H, Lange LA, Keating BJ [Contributors: Guo Y, Lanktree MB, Taylor KC, Fairfax BP, Elbers CC, Barnard J, Farrall M, Padmanabhan S, Baumert J, Castillo BA, Gaunt TR, Gong Y, Rajagopalan R, Romaine SPR, Kumari M, Rafelt S, Smith EN, Li YR, Sivapalaratnam S, van Iperen EPA, Speliotes EK, Toskala E, Zhang L, Ochs-Balcom HM, Bhangale TR, Chandrupatla HR, Drenos F, Gieger C, Gupta J, Johnson T, Kleber ME, Makino S, Mangino M, Meng Y, Nelson CP, Pankow JS, Pankratz N, Price TS, Shaffer J, Shen H, Tischfield S, Tomaszewski M, Atwood LD, Bailey KM, Balasubramanyam A, Baldwin CT, Basart H, Bauer F, Behr ER, Beitelshees AL, Berenson GS, Beresford SAA, Bezzina CR, Bhatt DL, Boer JMA, Braund PS, Burke GL, Burkley B, Carty C, Chen W, Clarke R, Cooper-DeHoff RM, Curtis SP, de Bakker PIW, de Jong JS, Delles C, Dominiczak AF, Duggan D, Feldman HI, Furlong CE, Gorski MM, Gums JG, Hardwick R, Hastie C, Heid IM, Huang GH, Huggins GS, Humphries SE, Kirkland SA, Kivimaki M, Klein R, Klein BE, Knowler WC, Kottke-Marchant K, LaCroix AZ, Langaee TY, Li M, Lyon HN, Maiwald S, Marshall JK, Mehta A, Meijs MFL, Melander O, Meyer N, Mitra N, Molony CM, Morrow DA, Murugesan G, Newhouse SJ, Nieto JF, Onland-Moret NC, Ouwehand WH, Palmen J, Pepine CJ, Ranchalis J, Rosas SE, Rosenthal EA, Scharnagl H, Schork NJ, Schreiner PJ, Shah T, Shashaty M, Shimbo D, Srinivasan SR, Thomas F, Tobin MD, Tsai MY, Verschuren WMM, Wagenknecht LE, Winkelmann BR, Young T, Yusuf S, Zafarmand MH, Zmuda JM, Zwinderman AH, Anand SS, Balmforth AJ, Boehm BO, Boerwinkle E, Burton PR, Cappola TP, Casas JP, Caulfield MJ, Christiani DC, Christie J, Cruickshanks KJ, Davey-Smith G, Davidson KW, Day IN, Doevendans PA, Dorn GW 2nd, FitzGerald GA, Hall AS, Hingorani AD, Hirschhorn JN, Hofker MH, Hovingh KG, Illig T, Jamshidi Y, Jarvik GP, Johnson JA, Kanetsky PA, Kastelein JJP, Koenig W, Lawlor DA, März W, McCaffery J, Mega JL, Mitchell BD, Murray SS, O'Connell JR, Patel SR, Peters A, Pettinger M, Rader DJ, Redline S, Reilly MP, Sabatine MS, Schadt EE, Shuldiner AR, Silverstein RL, Spector TD, Taylor HA, Thorand B, Trip MD, Watkins H, Wichmann HE, Fox CS, Grant SFA, Peter I, Talmud PJ, Munroe PB, Wilson JG, Knight JC, Samani NJ, Hegele RA, Asselbergs FW, Monda KL, van der Schouw YT, Demerath EW, Wijmenga C, Timpson NJ, Reiner AP, North KE, Papanicolaou GJ, Hakonarson H, Lange LA, Keating BJ]] , Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals. HUM MOL GENET 2013;22 (1):184-201 [PubMed]
Lodder EM, Bezzina CR, Arrhythmogenic right ventricular cardiomyopathy: growing evidence for complex inheritance. CIRC-CARDIOVASC GENE 2013;6 (6):525-527 [PubMed]
Pazoki R, de Jong JSSG, Marsman RF, Bruinsma N, Dekker LRC, Wilde AAM, Bezzina CR, Tanck MWT, SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition. PLOS ONE 2013;8 (2):e57216 [PubMed]
Pazoki R, Tanck MWT, Wilde AAM, Bezzina CR, Complex inheritance for susceptibility to sudden cardiac death. CURR PHARM DESIGN 2013;19 (39):6864-6872 [PubMed]
Xiao L, Koopmann TT, Ördög B, Postema PG, Verkerk AO, Iyer V, Sampson KJ, Boink GJJ, Mamarbachi MA, Varro A, Jordaens L, Res J, Kass RS, Wilde AA, Bezzina CR, Nattel S, Unique cardiac Purkinje fiber transient outward current β-subunit composition: a potential molecular link to idiopathic ventricular fibrillation. CIRC RES 2013;112 (10):1310-1322 [PubMed]
Zumhagen S, Veldkamp MW, Stallmeyer B, Baartscheer A, Eckardt L, Paul M, Remme CA, Bhuiyan ZA, Bezzina CR, Schulze-Bahr E, A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome. PLOS ONE 2013;8 (6):e67963 [PubMed]
Amin AS, Giudicessi JR, Tijsen AJ, Spanjaart AM, Reckman YJ, Klemens CA, Tanck MW, Kapplinger JD, Hofman N, Sinner MF, Müller M, Wijnen WJ, Tan HL, Bezzina CR, Creemers EE, Wilde AAM, Ackerman MJ, Pinto YM, Variants in the 3 untranslated region of the KCNQ1-encoded K(v)7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. EUR HEART J 2012;33 (6):714-723 [PubMed]
Asselbergs FW, Guo Y, van Iperen EPA, Sivapalaratnam S, Tragante V, Lanktree MB, Lange LA, Almoguera B, Appelman YE, Barnard J, Baumert J, Beitelshees AL, Bhangale TR, Chen YDI, Gaunt TR, Gong Y, Hopewell JC, Johnson T, Kleber ME, Langaee TY, Li M, Li YR, Liu K, McDonough CW, Meijs MFL, Middelberg RPS, Musunuru K, Nelson CP, O'Connell JR, Padmanabhan S, Pankow JS, Pankratz N, Rafelt S, Rajagopalan R, Romaine SPR, Schork NJ, Shaffer J, Shen H, Smith EN, Tischfield SE, van der Most PJ, van Vliet-Ostaptchouk JV, Verweij N, Volcik KA, Zhang L, Bailey KR, Bailey KM, Bauer F, Boer JMA, Braund PS, Burt A, Burton PR, Buxbaum SG, Chen W, Cooper-DeHoff RM, Cupples LA, Dejong JS, Delles C, Duggan D, Fornage M, Furlong CE, Glazer N, Gums JG, Hastie C, Holmes MV, Illig T, Kirkland SA, Kivimaki M, Klein R, Klein BE, Kooperberg C, Kottke-Marchant K, Kumari M, LaCroix AZ, Mallela L, Murugesan G, Ordovas J, Ouwehand WH, Post WS, Saxena R, Scharnagl H, Schreiner PJ, Shah T, Shields DC, Shimbo D, Srinivasan SR, Stolk RP, Swerdlow DI, Taylor HA Jr, Topol EJ, Toskala E, van Pelt JL, van Setten J, Yusuf S, Whittaker JC, Zwinderman AH, Anand SS, Balmforth AJ, Berenson GS, Bezzina CR, Boehm BO, Boerwinkle E, Casas JP, Caulfield MJ, Clarke R, Connell JM, Cruickshanks KJ, Davidson KW, Day INM, de Bakker PIW, Doevendans PA, Dominiczak AF, Hall AS, Hartman CA, Hengstenberg C, Hillege HL, Hofker MH, Humphries SE, Jarvik GP, Johnson JA, Kaess BM, Kathiresan S, Koenig W, Lawlor DA, März W, Melander O, Mitchell BD, Montgomery GW, Munroe PB, Murray SS, Newhouse SJ, Onland-Moret NC, Poulter N, Psaty B, Redline S, Rich SS, Rotter JI, Schunkert H, Sever P, Shuldiner AR, Silverstein RL, Stanton A, Thorand B, Trip MD, Tsai MY, van der Harst P, van der Schoot E, van der Schouw YT, Verschuren WMM, Watkins H, Wilde AAM, Wolffenbuttel BHR, Whitfield JB, Hovingh GK, Ballantyne CM, Wijmenga C, Reilly MP, Martin NG, Wilson JG, Rader DJ, Samani NJ, Reiner AP, Hegele RA, Kastelein JJP, Hingorani AD, Talmud PJ, Hakonarson H, Elbers CC, Keating BJ, Drenos F [Contributors: de Boer R, Hillege H, van der Klauw M, Navis G, Ormel H, Postma D, Rosmalen J, Slaets J, Stolk R, Wolffenbuttel B, Alizadeh B, Boezen M, Bruinenberg M, Festen N, Franke L, van der Harst P, Snieder H, Wijmenga C]] , Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci. AM J HUM GENET 2012;91 (5):823-838 [PubMed]
Clarke R, Bennett DA, Parish S, Verhoef P, Dötsch-Klerk M, Lathrop M, Xu P, Nordestgaard BG, Holm H, Hopewell JC, Saleheen D, Tanaka T, Anand SS, Chambers JC, Kleber ME, Ouwehand WH, Yamada Y, Elbers C, Peters B, Stewart AFR, Reilly MM, Thorand B, Yusuf S, Engert JC, Assimes TL, Kooner J, Danesh J, Watkins H, Samani NJ, Collins R, Peto R [Contributors: Holm H, Thorsteinsdottir U, Gretarsdottir S, Gulcher JR, Thorgeirsson G, Andersen K, Stefansson K, Parish S, Bennett DA, Clarke R, Peto R, Sleight P, Collins R, Hopewell JC, Watkins H, Saleheen D, Danesh J, Rasheed A, Zaidi M, Frossard P, Shah N, Samuel M, Tanaka T, Ozaki K, Sato H, Sakata Y, Komuro I, Anand SS, Yusuf S, Engert JC, Chambers J, Kooner J, Armitage J, Samani NJ, Braund PS, Nelson CP, Hall AS, Balmforth A, Ball SG, Kleber ME, Hoffmann MM, März WA, Bugert P, Winkelmann B, Böhm BO, Ouwehand WH, Sivapalaratnam S, Kastelein JJ, Trip MD, Bezzina CR, Ouwehand W, Yamada Y, Elbers CC, Onland-Moret NC, Bauer F, van der Schouw YT, Verschuren WM, de Boer JM, Wijmenga C, Hofker MH, de Bakker PIW, Peters BJM, Maitland-van der Zee AH, de Boer A, Klungel OH, Grobbee DE, Stewart AFR, Roberts R, McPherson R, Chen L, Wells GA, Reilly MM, Li M, Qu I, Rader DJ, Thorand B, Illig T, Peters A, Koenig W, Assimes TL, Fortmann S, Iribarren C, Abbate R, Marcucci R, Anderson JL, Zebrack JS, Ardissino D, Merlini FM, Bonomi AB, Ashfield-Watt PAL, Clark ZE, van Bockxmeer FM, Brownrigg L, Kooner JS, Ferrer-Antunes C, Palmeiro A, Fernandez-Arcas N, Reyes-Engel A, Folsom AR, Fowkes FGR, Lee AJ, Gaziano JM, Gemmati D, Scapoli GL, Genest J, Rozen R, Girelli D, Corrocher R, Rossi GB, Meleady R, Graham IM, Gulec S, Hopkins PN, Inbal A, Selighson U, Jukema JW, Litynsky P, Kluijtmans LAJ, Kozich V, Janosikova B, Ma J, Stampfer MJ, Malinow MR, Meisel C, Stangl K, Morita H, Nagai R, Nakai K, Nordestgaard BG, Zacho J, Rimm EB, Schwartz SM, Siscovick DS, Silberberg JS, Szczeklik A, Domagala BT, Tanis BC, Rosendaal FM, Thogersen AM, Nilsson TK, Todesco L, Tokgozoglu SL, Tsai MY, Hanson NQ, Verhoeff BJ, Yamakawa-Kobayashi K, Hamaguchi H]] , Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. PLOS MED 2012;9 (2):e1001177 [PubMed]
Davis RP, Casini S, van den Berg CW, Hoekstra M , Remme CA, Dambrot C, Salvatori D, Ward-van Oostwaard D, Wilde AAM, Bezzina CR, Verkerk AO, Freund C, Mummery CL, Cardiomyocytes Derived From Pluripotent Stem Cells Recapitulate Electrophysiological Characteristics of an Overlap Syndrome of Cardiac Sodium Channel Disease. CIRCULATION 2012;125 (25):3079-+ [PubMed]
Hoekstra M , Mummery CL, Wilde AAM, Bezzina CR, Verkerk AO, Induced pluripotent stem cell derived cardiomyocytes as models for cardiac arrhythrnias. FRONT PHYSIOL 2012;3:UNSP 346 [PubMed]
Kääb S, Crawford DC, Sinner MF, Behr ER, Kannankeril PJ, Wilde AAM, Bezzina CR, Schulze-Bahr E, Guicheney P, Bishopric NH, Myerburg RJ, Schott JJ, Pfeufer A, Beckmann BM, Martens E, Zhang T, Stallmeyer B, Zumhagen S, Denjoy I, Bardai A, van Gelder IC, Jamshidi Y, Dalageorgou C, Marshall V, Jeffery S, Shakir S, Camm AJ, Steinbeck G, Perz S, Lichtner P, Meitinger T, Peters A, Wichmann HE, Ingram C, Bradford Y, Carter S, Norris K, Ritchie MD, George AL Jr, Roden DM, A Large Candidate Gene Survey Identifies the KCNE1 D85N Polymorphism as a Possible Modulator of Drug-Induced Torsades de Pointes. CIRC-CARDIOVASC GENE 2012;5 (1):91-99 [PubMed]
Kolder ICRM. Genetic modifiers in familial cardiac rhythm disorders. S.l.: Ipskamp Drukkers B.V.; 2012. 155p. ISBN 978-94-6191-336-4 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wilde AAM, Zwinderman AH; copromotor(s): Bezzina CR, Tanck MWT)
Kolder ICRM, Michels M, Christiaans I, ten Cate FJ, Majoor-Krakauer D, Danser AHJ, Lekanne Deprez RH, Tanck MWT, Wilde AAM, Bezzina CR, Dooijes D, The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy. EUR J HUM GENET 2012;20 (10):1071-1077 [PubMed]
Kolder ICRM, Tanck MWT, Bezzina CR, Common genetic variation modulating cardiac ECG parameters and susceptibility to sudden cardiac death. J MOL CELL CARDIOL 2012;52 (3):620-629 [PubMed]
Koopmann TT, Verkerk AO, Bezzina CR, de Bakker JMT, Wilde AAM, The Chemical Compound PTC124 Does Not Affect Cellular Electrophysiology of Cardiac Ventricular Myocytes. CARDIOVASC DRUG THER 2012;26 (1):41-45 [PubMed]
Lodder EM, Scicluna BP, Milano A, Sun AY, Tang H, Remme CA, Moerland PD, Tanck MWT, Pitt GS, Marchuk DA, Bezzina CR, Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction. PLOS GENET 2012;8 (12):e1003113 [PubMed]
Makita N, Seki A, Sumitomo N, Chkourko H, Fukuhara S, Watanabe H, Shimizu W, Bezzina CR, Hasdemir C, Mugishima H, Makiyama T, Baruteau A, Baron E, Horie M, Hagiwara N, Wilde AAM, Probst V, Le Marec H, Roden DM, Mochizuki N, Schott JJ, Delmar M, A Connexin40 Mutation Associated With a Malignant Variant of Progressive Familial Heart Block Type I. CIRC-ARRHYTHMIA ELEC 2012;5 (1):163-U274 [PubMed]
Rizzo S, Lodder EM, Verkerk AO, Wolswinkel R, Beekman L, Pilichou K, Basso C, Remme CA, Thiene G, Bezzina CR, Intercalated disc abnormalities, reduced Na+ current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes. CARDIOVASC RES 2012;95 (4):409-418 [PubMed]
Sarwar N, Butterworth AS, Freitag DF, Gregson J, Willeit P, Gorman DN, Gao P, Saleheen D, Rendon A, Nelson CP, Braund PS, Hall AS, Chasman DI, Tybjærg-Hansen A, Chambers JC, Benjamin EJ, Franks PW, Clarke R, Wilde AAM, Trip MD, Steri M, Witteman JCM, Qi L, van der Schoot CE, de Faire U, Erdmann J, Stringham HM, Koenig W, Rader DJ, Melzer D, Reich D, Psaty BM, Kleber ME, Panagiotakos DB, Willeit J, Wennberg P, Woodward M, Adamovic S, Rimm EB, Meade TW, Gillum RF, Shaffer JA, Hofman A, Onat A, Sundström J, Wassertheil-Smoller S, Mellström D, Gallacher J, Cushman M, Tracy RP, Kauhanen J, Karlsson M, Salonen JT, Wilhelmsen L, Amouyel P, Cantin B, Best LG, Ben-Shlomo Y, Manson JE, Davey-Smith G, de Bakker PIW, O'Donnell CJ, Wilson JF, Wilson AG, Assimes TL, Jansson JO, Ohlsson C, Tivesten Å, Ljunggren Ö, Reilly MP, Hamsten A, Ingelsson E, Cambien F, Hung J, Thomas GN, Boehnke M, Schunkert H, Asselbergs FW, Kastelein JJP, Gudnason V, Salomaa V, Harris TB, Kooner JS, Allin KH, Nordestgaard BG, Hopewell JC, Goodall AH, Ridker PM, Hólm H, Watkins H, Ouwehand WH, Samani NJ, Kaptoge S, Di Angelantonio E, Harari O, Danesh J [Contributors: Assimes TL, Quertermous T, Go AS, Hlatky MA, Knowles JW, Gudnason V, Smith AV, Panagiotakos DB, Chrysohoou C, Pitsavos C, Stefanadis C, Nelson CP, Braund PS, Samani NJ, Hall AS, Balmforth AJ, Thompson JR, Rendon A, Wilde AAM, Trip MD, van der Schoot CE, Kastelein JJP, Ouwehand WH, Sivapalaratnam S, Maiwald S, Basart H, Motazacker M, de Jong JSSG, Dekker LRC, Tanck M, Bezzina CR, Whincup PH, Morris RW, Wannamethee SG, Willeit J, Kiechl S, Gallacher J, Yarnell JWG, Lowe G, Rumley A, Goodall AH, Cambien F, Cushman M, Mukamal KJ, Nordestgaard BG, Tybjærg-Hansen A, Allin KH, Salomaa V, Havulinna AS, Lokki ML, Nieminen MS, Ripatti S, Sinisalo J, Hung J, McQuillan BM, Beilby JP, Thompson PL, Hólm H, Thorleifsson G, Thorgeirsson G, Thorsteinsdóttir U, Stefansson K, Jula A, Männistö S, Perola M, Tikkanen E, Asselbergs FW, Boer JMA, Onland-Moret NC, van der Schouw YT, Verschuren WMM, de Bakker PIW, Wennberg P, Jansson JH, Woodward M, Benjamin EJ, Dupuis J, Fontes JD, Yin X, O'Donnell CJ, Boehnke M, Stringham HM, Tuomilehto J, Schunkert H, Erdmann J, Koenig IR, Nahrstaedt J, Loley C, Stark K, Willenborg C, Hengstenberg C, Schreiber S, Preuss M, Franks PW, Barroso I, Hallmans G, Shungin D, Thomas GN, Cheng KK, Lam TH, Jiang CC, Reich D, Harris TB, Rimm EB, Pai J, Hopewell JC, Collins R, Parish S, Armitage J, Jackson A, Hveem K, Psaty BM, Wiggins KL, Heckbert SR, Smith NL, Bis JC, Melzer D, Ferrucci L, Guralnik JM, Bandinelli S, Singleton AB, Kauhanen J, Salonen JT, Tuomainen TP, Kurl S, Meade TW, Chambers JC, Kooner JS, Zhang W, Kooner AS, Das D, Kleber ME, März W, Scharnagl H, Böhm BO, Winkelmann BR, Tracy RP, Folsom AR, Shea SJ, Laakso M, Kuusisto J, Koenig W, Baumert J, Thorand B, Illig T, Meisinger C, Wilhelmsen L, Rosengren A, Jansson JO, Adamovic S, Karlsson MK, Ljunggren Ö, Mellström D, Ohlsson C, Tivesten Å, Gillum RF, Manson JE, Qi L, Hu FB, Hankinson SE, Shaffer JA, Davidson KW, Wilson JF, Fraser R, Wild S, Campbell H, Rader DJ, Reilly MP, Qasim A, Qu L, Li M, Ingelsson E, Lind L, Sundström J, Syvänen AC, Amouyel P, Arveiler D, Clarke R, Watkins H, Farrall M, Peden JF, Saleheen D, Deloukas P, Sheikh N, Rasheed A, Danesh J, Cantin B, Dagenais GR, Witteman JCM, Hofman A, Dehghan A, van Duijn CM, Uitterlinden AG, Steri M, Abecasis GR, Cucca F, Sanna S, Uda M, Schlessinger D, Hamsten A, Sabater-Lleal M, Silveira A, de Faire U, Gigante B, Best LG, Howard BV, Davey-Smith G, Ben-Shlomo Y, Onat A, Basu S, Ridker PM, Chasman DI, Rose LM, Wassertheil-Smoller S, Buring J]] , Interleukin-6 receptor pathways in coronary heart disease: a collaborative meta-analysis of 82 studies. LANCET 2012;379 (9822):1205-1213 [PubMed]
van den Boogaard M, Wong LYE, Tessadori F, Bakker ML, Dreizehnter LK, Wakker V, Bezzina CR, 't Hoen PAC, Bakkers J, Barnett P, Christoffels VM, Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer. J CLIN INVEST 2012;122 (7):2519-2530 [PubMed]
Verkerk AO, Remme CA, Schumacher CA, Scicluna BP, Wolswinkel R, de Jonge B, Bezzina CR, Veldkamp MW, Functional Na(V)1.8 Channels in Intracardiac Neurons The Link Between SCN10A and Cardiac Electrophysiology. CIRC RES 2012;111 (3):333-343 [PubMed]
Arking DE, Junttila MJ, Goyette P, Huertas-Vazquez A, Eijgelsheim M, Blom MT, Newton-Cheh C, Reinier K, Teodorescu C, Uy-Evanado A, Carter-Monroe N, Kaikkonen KS, Kortelainen ML, Boucher G, Lagacé C, Moes A, Zhao X, Kolodgie F, Rivadeneira F, Hofman A, Witteman JCM, Uitterlinden AG, Marsman RF, Pazoki R, Bardai A, Koster RW, Dehghan A, Hwang SJ, Bhatnagar P, Post W, Hilton G, Prineas RJ, Li M, Köttgen A, Ehret G, Boerwinkle E, Coresh J, Kao WHL, Psaty BM, Tomaselli GF, Sotoodehnia N, Siscovick DS, Burke GL, Marbán E, Spooner PM, Cupples LA, Jui J, Gunson K, Kesäniemi YA, Wilde AAM, Tardif JC, O'Donnell CJ, Bezzina CR, Virmani R, Stricker BHCH, Tan HL, Albert CM, Chakravarti A, Rioux JD, Huikuri HV, Chugh SS, Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLOS GENET 2011;7 (6):e1002158 [PubMed]
Marsman RF, Bardai A, Postma AV, Res JCJ, Koopmann TT, Beekman L, van der Wal AC, Pinto YM, Lekanne Deprez RH, Wilde AAM, Jordaens LJ, Bezzina CR, A complex double deletion in LMNA underlies progressive cardiac conduction disease, atrial arrhythmias, and sudden death. CIRC-CARDIOVASC GENE 2011;4 (3):280-287 [PubMed]
Marsman RFJ, Wilde AAM, Bezzina CR, Genetic predisposition for sudden cardiac death in myocardial ischaemia: the Arrhythmia Genetics in the NEtherlandS study. NETH HEART J 2011;19 (2):96-100 [PubMed]
Marsman RF, Wilde AAM, Bezzina CR. Inherited cardiac arrhythmia syndromes: role of the sodium channel in: Cohen-Kligerman B, Antzelevitch C, Thakur RK, Natale A, editors. Basic Science for the Clinical Electrophysiologist. Philadelphia, Pennsylvania: W.B. Saunders Company; 2011. 3, p. 93-112
Pilichou K, Bezzina CR, Thiene G, Basso C, Arrhythmogenic cardiomyopathy: transgenic animal models provide novel insights into disease pathobiology. CIRC-CARDIOVASC GENE 2011;4 (3):318-326 [PubMed]
Postema PG, Christiaans I, Hofman N, Alders M, Koopmann TT, Bezzina CR, Loh P, Zeppenfeld K, Volders PGA, Wilde AAM, Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6. NETH HEART J 2011;19 (6):290-296 [PubMed]
Postma AV, Christoffels VM, Bezzina CR, Developmental aspects of cardiac arrhythmogenesis. CARDIOVASC RES 2011;91 (2):243-251 [PubMed]
Scicluna B. System-based approach for the identification of novel genes influencing cardiac electrical traits. s.l.: s.n.; 2011. 190p. [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wilde AAM; copromotor(s): Bezzina CR)
Scicluna BP, Tanck MWT, Remme CA, Beekman L, Coronel R, Wilde AAM, Bezzina CR, Quantitative trait loci for electrocardiographic parameters and arrhythmia in the mouse. J MOL CELL CARDIOL 2011;50 (3):380-389 [PubMed]
van den Berg MP, Bezzina CR, KCND3 mutations in Brugada syndrome: the plot thickens. HEART RHYTHM 2011;8 (7):1033-1035 [PubMed]
[Contributors: Butterworth AS, Braund PS, Farrall M, Hardwick RJ, Saleheen D, Peden JF, Soranzo N, Chambers JC, Sivapalaratnam S, Kleber ME, Keating B, Qasim A, Klopp N, Erdmann J, Assimes TL, Ball SG, Balmforth AJ, Barnes TA, Basart H, Baumert J, Bezzina CR, Boerwinkle E, Boehm BO, Brocheton J, Bugert P, Cambien F, Clarke R, Codd V, Collins R, Couper D, Cupples LA, de Jong JS, Diemert P, Ejebe K, Elbers CC, Elliott P, Fornage M, Franzosi MG, Frossard P, Garner S, Goel A, Goodall AH, Hengstenberg C, Hunt SE, Kastelein JJP, Klungel OH, Klüter H, Koch K, König IR, Kooner AS, Laaksonen R, Lathrop M, Li M, Liu K, McPherson R, Musameh MD, Musani S, Nelson CP, O'Donnell CJ, Ongen H, Papanicolaou G, Peters A, Peters BJM, Potter S, Psaty BM, Qu L, Rader DJ, Rasheed A, Rice C, Scott J, Seedorf U, Sehmi JS, Sotoodehnia N, Stark K, Stephens J, van der Schoot CE, van der Schouw YT, Thorsteinsdottir U, Tomaszewski M, van der Harst P, Vasan RS, Wilde AAM, Willenborg C, Winkelmann BR, Zaidi M, Zhang W, Ziegler A, de Bakker PIW, Koenig W, Mätz W, Trip MD, Reilly MP, Kathiresan S, Schunkert H, Hamsten A, Hall AS, Kooner JS, Thompson SG, Thompson JR, Deloukas P, Ouwehand WH, Watkins H, Danesh J, Samani NJ, Barnes T, Rafelt S, Bruinsma N, Dekker LR, Henriques JP, Koch KT, de Winter RJ, Alings M, Allaart CF, Gorgels AP, Verheugt FW, Mueller M, Meisinger C, DerOhannessian S, Mehta NN, Ferguson J, Hakonarson H, Matthai W, Wilensky R, Hopewell JC, Parish S, Linksted P, Notman J, Gonzalez H, Young A, Ostley T, Munday A, Goodwin N, Verdon V, Shah S, Cobb L, Edwards C, Mathews C, Gunter R, Benham J, Davies C, Cobb M, Crowther J, Richards A, Silver M, Tochlin S, Mozley S, Clark S, Radley M, Kourellias K, Silveira A, Söderholm B, Olsson P, Barlera S, Tognoni G, Rust S, Assmann G, Heath S, Zelenika D, Gut I, Green F, Peden J, Aly A, Anner K, Björklund K, Blomgren G, Cederschiöld B, Danell-Toverud K, Eriksson P, Grundstedt U, Heinonen M, Hellénius ML, van't Hooft F, Husman K, Lagercrantz J, Larsson A, Larsson M, Mossfeldt M, Mälarstig A, Olsson G, Sabater-Lleal M, Sennblad B, Strawbridge R, Öhrvik J, Zaman KS, Mallick NH, Azhar M, Samad A, Ishaq M, Shah N, Samuel M, Reilly M, Holm H, Preuss M, Stewart AFR, Barbalic M, Gieger C, Absher D, Aherrahrou Z, Allayee H, Altshuler D, Anand S, Andersen K, Anderson JL, Ardissino D, Becker LC, Becker DM, Berger K, Bis JC, Boekholdt SM, Brown MJ, Burnett MS, Buysschaert I, Carlquist JF, Chen L, Davies RW, Dedoussis G, Dehghan A, Demissie S, Devaney J, Do R, Doering A, El Mokhtari NE, Ellis SG, Elosua R, Engert JC, Epstein S, de Faire U, Fischer M, Folsom AR, Freyer J, Gigante B, Girelli D, Gretarsdottir S, Gudnason V, Gulcher JR, Tennstedt S, Halperin E, Hammond N, Hazen SL, Hofman A, Horne BD, Illig T, Iribarren C, Jones GT, Jukema JW, Kaiser MA, Kaplan LM, Khaw KT, Knowles JW, Kolovou G, Kong A, Lambrechts D, Leander K, Lieb W, Lettre G, Loley C, Lotery AJ, Mannucci PM, Maouche S, Martinelli N, McKeown PP, Meitinger T, Melander O, Merlini PA, Mooser V, Morgan T, Mühleisen TW, Muhlestein JB, Musunuru K, Nahrstaedt J, Nöthen MM, Olivieri O, Peyvandi F, Patel RS, Patterson CC, Quyyumi AA, Rallidis LS, Roosendaal FR, Rubin D, Salomaa V, Sampietro ML, Sandhu MS, Schadt E, Schäfer A, Schillert A, Schreiber S, Schrezenmeir J, Schwartz SM, Siscovick DS, Sivananthan M, Smith AV, Smith TB, Snoep JD, Spertus JA, Stefansson K, Stirrups K, Stoll M, Tang WHW, Thorgeirsson G, Thorleifsson G, Uitterlinden AG, van Rij AM, Voight BF, Wareham NJ, AWells G, Wichmann HE, Witteman JCM, Wright BJ, Ye S, Quertermous T, März W, Blankenberg S, Roberts R, Onland-Moret NC, van Setten J, Verschuren WMM, Boer JMA, Wijmenga C, Hofker MH, Maitland-van der Zee AH, de Boer A, Grobbee DE, Attwood T, Belz S, Braund P, Cambien F, Cooper J, Crisp-Hihn A, Foad N, Gracey J, Gray E, Gwilliams R, Heimerl S, Jolley J, Krishnan U, Lloyd-Jones H, Lugauer I, Lundmark P, Moore JS, Muir D, Murray E, Nelson CP, Neudert J, Niblett D, O'Leary K, Pollard H, Rankin A, Rice CM, Sager H, Sambrook J, Schmitz G, Scholz M, Schroeder L, Syvannen AC, Wallace C]] , Large-scale gene-centric analysis identifies novel variants for coronary artery disease. PLOS GENET 2011;7 (9):e1002260 [PubMed]
Bezzina CR, Pazoki R, Bardai A, Marsman RF, de Jong JSSG, Blom MT, Scicluna BP, Jukema JW, Bindraban NR, Lichtner P, Pfeufer A, Bishopric NH, Roden DM, Meitinger T, Chugh SS, Myerburg RJ, Jouven X, Kääb S, Dekker LRC, Tan HL, Tanck MWT, Wilde AAM, Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction. NAT GENET 2010;42 (8):688-U64 [PubMed]
Casini S, Tan HL, Demirayak I, Remme CA, Amin AS, Scicluna BP, Chatyan H, Ruijter JM, Bezzina CR, van Ginneken ACG, Veldkamp MW, Tubulin polymerization modifies cardiac sodium channel expression and gating. CARDIOVASC RES 2010;85 (4):691-700 [PubMed]
Chambers JC, Zhao J, Terracciano CMN, Bezzina CR, Zhang W, Kaba R, Navaratnarajah M, Lotlikar A, Sehmi JS, Kooner MK, Deng G, Siedlecka U, Parasramka S, El-Hamamsy I, Wass MN, Dekker LRC, de Jong JSSG, Sternberg MJE, McKenna W, Severs NJ, de Silva R, Wilde AAM, Anand P, Yacoub M, Scott J, Elliott P, Wood JN, Kooner JS, Genetic variation in SCN10A influences cardiac conduction. NAT GENET 2010;42 (2):149-U80 [PubMed]
Hoogendijk MG, Potse M, Linnenbank AC, Verkerk AO, den Ruijter HM, van Amersfoorth SCM, Klaver EC, Beekman L, Bezzina CR, Postema PG, Tan HL, Reimer AG, van der Wal AC, ten Harkel ADJ, Dalinghaus M, Vinet A, Wilde AAM, de Bakker JMT, Coronel R, Mechanism of right precordial ST-segment elevation in structural heart disease: Excitation failure by current-to-load mismatch. HEART RHYTHM 2010;7 (2):238-248 [PubMed]
Horn D, Kapeller J, Rivera-Brugués N, Moog U, Lorenz-Depiereux B, Eck S, Hempel M, Wagenstaller J, Gawthrope A, Monaco AP, Bonin M, Riess O, Wohlleber E, Illig T, Bezzina CR, Franke A, Spranger S, Villavicencio-Lorini P, Seifert W, Rosenfeld J, Klopocki E, Rappold GA, Strom TM, Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits. HUM MUTAT 2010;31 (11):E1851-E1860 [PubMed]
Koopmann TT, Bezzina CR, Genetics of lone atrial fibrillation. EUROPACE 2010;12 (10):1351-1352 [PubMed]
Pazoki R, Wilde AAM, Bezzina CR, Genetic Basis of Ventricular Arrhythmias. CURR CARDIOVASC RISK REP 2010;4 (6):454-460 [PubMed]
Remme CA, Bezzina CR, Cardiac desmosomal (dys)function and myocyte viability. CELL CYCLE 2010;9 (7):1246-1252 [PubMed]
Remme CA, Bezzina CR, Sodium Channel (Dys)Function and Cardiac Arrhythmias. CARDIOVASC THER 2010;28 (5):287-294 [PubMed]
Alders M, Koopmann TT, Christiaans I, Postema PG, Beekman L, Tanck MWT, Zeppenfeld K, Loh P, Koch KT, Demolombe S, Mannens MMAM, Bezzina CR, Wilde AAM, Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation. AM J HUM GENET 2009;84 (4):468-476 [PubMed]
Koopmann TT, Postema PG, Bezzina CR, Wilde AAM. Ion channels involved in genetic cardiac arrhythmias in: Duclohier H, editors. Biophysics of Ion Channels and Diseases. Kerala, India: Research Signpost; 2009., p. 113-138
Meregalli PG, Tan HL, Probst V, Koopmann TT, Tanck MW, Bhuiyan ZA, Sacher F, Kyndt F, Schott JJ, Albuisson J, Mabo P, Bezzina CR, Le Marec H, Wilde AAM, Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies. HEART RHYTHM 2009;6 (3):341-348 [PubMed]
Pilichou K, Remme CA, Basso C, Campian ME, Rizzo S, Barnett P, Scicluna BP, Bauce B, van den Hoff MJB, de Bakker JMT, Tan HL, Valente M, Nava A, Wilde AAM, Moorman AFM, Thiene G, Bezzina CR, Myocyte necrosis underlies progressive myocardial dystrophy in mouse dsg2-related arrhythmogenic right ventricular cardiomyopathy. J EXP MED 2009;206 (8):1787-1802 [PubMed]
Postema PG, van den Berg M, van Tintelen JP, van den Heuvel F, Grundeken M, Hofman N, van der Roest WP, Nannenberg EA, Krapels IPC, Bezzina CR, Wilde A, Founder mutations in the Netherlands SCN5a 1795insD, the first described arrhythmia overlap syndrome and one of the largest and best characterised families worldwide. NETH HEART J 2009;17 (11):422-428 [PubMed]
Remme CA, Scicluna BP, Verkerk AO, Amin AS, van Brunschot S, Beekman L, Deneer VHM, Chevalier C, Oyama F, Miyazaki H, Nukina N, Wilders R, Escande D, Houlgatte R, Wilde AAM, Tan HL, Veldkamp MW, de Bakker JMT, Bezzina CR, Genetically Determined Differences in Sodium Current Characteristics Modulate Conduction Disease Severity in Mice With Cardiac Sodium Channelopathy. CIRC RES 2009;104 (11):1283-U112 [PubMed]
Remme CA, Verkerk AO, Hoogaars WMH, Aanhaanen WTJ, Scicluna BP, Annink C, van den Hoff MJB, Wilde AAM, van Veen TAB, Veldkamp MW, de Bakker JMT, Christoffels VM, Bezzina CR, The cardiac sodium channel displays differential distribution in the conduction system and transmural heterogeneity in the murine ventricular myocardium. BASIC RES CARDIOL 2009;104 (5):511-522 [PubMed]
Stein M, van Veen TAB, Remme CA, Boulaksil M, Noorman M, van Stuijvenberg L, van der Nagel R, Bezzina CR, Hauer RNW, de Bakker JMT, van Rijen HVM, Combined reduction of intercellular coupling and membrane excitability differentially affects transverse and longitudinal cardiac conduction. CARDIOVASC RES 2009;83 (1):52-60 [PubMed]
Amin AS, Herfst LJ, Delisle BP, Klemens CA, Rook MB, Bezzina CR, Underkofler HAS, Holzem KM, Ruijter JM, Tan HL, January CT, Wilde AAM, Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome. J CLIN INVEST 2008;118 (7):2552-2561 [PubMed]
Bezzina CR, Genetics of cardiomyopathy and channelopathy. HEART METAB 2008;41:5-10
Bezzina CR, Remme CA, Dilated cardiomyopathy due to sodium channel dysfunction: what is the connection?. CIRC-ARRHYTHMIA ELEC 2008;1 (2):80-82 [PubMed]
Koopmann TT. Genetic basis of cardiac ion channel diseases. s.l.: s.n.; 2008. 172p. ISBN 9789090231082 [UvA Dissertations Online] Proefschrift Universiteit van Amsterdam. (Promotor(s): Wilde AAM, Moorman AFM; copromotor(s): Bezzina CR)
Remme CA, Wilde AAM, Bezzina CR, Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations. TRENDS CARDIOVAS MED 2008;18 (3):78-87 [PubMed]
Scicluna BP, Wilde AW, Bezzina CR, The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why?. J CARDIOVASC ELECTR 2008;19 (4):445-452 [PubMed]
Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld ACP, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AAM, Roden DM, Bezzina CR, Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J CLIN INVEST 2008;118 (6):2260-2268 [PubMed]
Yang P, Koopmann TT, Pfeufer A, Jalilzadeh S, Schulze-Bahr E, Kääb S, Wilde AA, Roden DM, Bezzina CR, Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity. EUR J HUM GENET 2008;16 (3):350-357 [PubMed]
Bezzina CR, Wilde AAM. Genetic basis for cardiac arrhythmias in: Willerson JT, Cohn JN, Wellens HJJ, Holmes DR, editors. Cardiovascular Medicine. London: Springer-Verlag; 2007. 3rd edition, p. 2577-2598
Casini S, Tan HL, Bhuiyan ZA, Bezzina CR, Barnett P, Cerbai E, Mugelli A, Wilde AAM, Veldkamp MW, Characterization of a novel SCN5A mutation associated with Brugada syndrome reveals involvement of DIIIS4-S5 linker in slow inactivation. CARDIOVASC RES 2007;76 (3):418-429 [PubMed]
Koopmann TT, Beekman L, Alders M, Meregalli PG, Mannens MMAM, Moorman AFM, Wilde AAM, Bezzina CR, Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort. HEART RHYTHM 2007;4 (6):752-755 [PubMed]
Remme CA, Bezzina CR, Genetic modulation of cardiac repolarization reserve - Editorial commentary. HEART RHYTHM 2007;4 (5):608-610 [PubMed]
Remme CA, Verkerk AO, Wilde AAM, Veldkamp MW, de Bakker JMT, Bezzina CR, Diversity in cardiac sodium channel disease phenotype in transgenic mice carrying a single SCN5A mutation. NETH HEART J 2007;15 (6):235-238 [PubMed]
Bezzina CR, Shimizu W, Yang P, Koopmann TT, Tanck MWT, Miyamoto Y, Kamakura S, Roden DM, Wilde AAM, Common sodium channel promoter haplotype in asian subjects underlies variability in cardiac conduction. CIRCULATION 2006;113 (3):338-344 [PubMed]
Coronel R, Casini S, Koopmann TT, Verkerk AO, de Groot JR, Bezzina CR, Veldkamp MW, Linnenbank AC, Tan HL, Wilde AAM, de Bakker JMT, Wilms-Schopman FJG, Bhuiyan Z, van der Wal AC, Brugada P, Letters regarding article by Coronel et al, "Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: A combined electrophysiological, genetic, histopathologic, and computational study" - Response. CIRCULATION 2006;113 (16):E726-E727
Dekker LRC, Bezzina CR, Henriques JPS, Tanck MW, Koch KT, Alings MW, Arnold AER, de Boer MJ, Gorgels APM, Michels HR, Verkerk A, Verheugt FWA, Zijlstra F, Wilde AAM, Familial sudden death is an important risk factor for primary ventricular fibrillation: a case-control study in acute myocardial infarction patients. CIRCULATION 2006;114 (11):1140-1145 [PubMed]
Firouzi M, Kok B, Spiering W, Busjahn A, Bezzina CR, Ruijter JM, Koeleman BPC, Schipper M, Groenewegen WA, Jongsma HJ, de Leeuw PW, Polymorphisms in human connexin40 gene promoter are associated with increased risk of hypertension in men. J HYPERTENS 2006;24 (2):325-330 [PubMed]
Koopmann TT, Alders M, Jongbloed RJ, Guerrero S, Mannens MMAM, Wilde AAM, Bezzina CR, Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies. HEART RHYTHM 2006;3 (1):52-55 [PubMed]
Koopmann TT, Bezzina CR, Wilde AAM, Voltage-gated sodium channels: action players with many faces. ANN MED 2006;38 (7):472-482 [PubMed]
Meregalli PG, Ruijter JM, Hofman N, Bezzina CR, Wilde AAM, Tan HL, Diagnostic value of flecainide testing in unmasking SCN5A-related Brugada syndrome. J CARDIOVASC ELECTR 2006;17 (8):857-864 [PubMed]
Remme CA, Verkerk AO, Nuyens D, van Ginneken ACG, van Brunschot S, Belterman CNW, Wilders R, van Roon MA, Tan HL, Wilde AAM, Carmeliet P, de Bakker JMT, Veldkamp MW, Bezzina CR, Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD. CIRCULATION 2006;114 (24):2584-2594 [PubMed]
Beaufort-Krol GCM, van den Berg MP, Wilde AAM, van Tintelen JP, Viersma JW, Bezzina CR, Bink-Boelkens MTE, Developmental aspects of long QT syndrome type 3 and Brugada syndrome on the basis of a single SCN5A mutation in childhood. J AM COLL CARDIOL 2005;46 (2):331-337 [PubMed]
Bezzina CR, Wilde AAM. Molecular, genetic and clinical aspects of arrhythmia disorders in: Hiraoka M, Ogawa S, Kodoma I, Inoue H, Kasanuki H, Katoh T, editors. Advances in Electrocardiology 2004. Proceedings of the 31st International Congress on Electrocardiology, Kyoto, Japan. divers: World Scientific; 2005., p. 297-310
Bezzina CR, Wilde AAM, Roden DM, The molecular genetics of arrhythmias. CARDIOVASC RES 2005;67 (3):343-346 [PubMed]
Coronel R, Casini S, Koopmann TT, Wilms-Schopman FJG, Verkerk AO, de Groot JR, Bhuiyan Z, Bezzina CR, Veldkamp MW, Linnenbank AC, van der Wal AC, Tan HL, Brugada P, Wilde AAM, de Bakker JMT, Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome - A combined electrophysiological, genetic, histopathologic, and computational study. CIRCULATION 2005;112 (18):2769-2777 [PubMed]
Smits JPP, Koopmann TT, Wilders R, Veldkamp MW, Opthof T, Bhuiyan ZA, Mannens MMAM, Balser JR, Tan HL, Bezzina CR, Wilde AAM, A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families. J MOL CELL CARDIOL 2005;38 (6):969-981 [PubMed]
Smits JPP, Veldkamp MW, Bezzina CR, Bhuiyan ZA, Wedekind H, Schulze-Bahr E, Wilde AAM, Substitution of a conserved alanine in the domain IIIS4-S5 linker of the cardiac sodium channel causes long QT syndrome. CARDIOVASC RES 2005;67 (3):459-466 [PubMed]
Verkerk AO, Wilders R, Schulze-Bahr E, Beekman L, Bhuiyan ZA, Bertrand J, Eckardt L, Lin D, Borggrefe M, Breithardt G, Mannens MMAM, Tan HL, Wilde AAM, Bezzina CR, Role of sequence variations in the human ether-a-go-go-related gene (HERG, KCNH2) in the Brugada syndrome. CARDIOVASC RES 2005;68 (3):441-453 [PubMed]
Wilde AAM, Bezzina CR, Genetics of cardiac arrhythmias. HEART 2005;91 (10):1352-1358 [PubMed]
Bellocq C, van Ginneken ACG, Bezzina CR, Alders M, Escande D, Mannens MMAM, Baró I, Wilde AAM, Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. CIRCULATION 2004;109 (20):2394-2397 [PubMed]
Bezzina CR, Rook MB, Groenewegen WA, Herfst LJ, van der Wal AC, Lam J, Jongsma HJ, Wilde AAM, Mannens MMAM, Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. CIRC RES 2003;92 (2):159-168 [PubMed]
Bezzina CR, Verkerk AO, Busjahn A, Jeron A, Erdmann J, Koopmann TT, Bhuiyan ZA, Wilders R, Mannens MMAM, Tan HL, Luft FC, Schunkert H, Wilde AAM, A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization. CARDIOVASC RES 2003;59 (1):27-36 [PubMed]
Bezzina CR, Wilde AAM. Ion channel disease as a cause of the Brugada syndrome; molecular and genetic aspects in: Gussak I, editor. Contemporary cardiology: cardiac repolarization: bridging basic and clinical science. Totowa NJ: Humana Press Inc; 2003., p. 187-200
Groenewegen WA, Bezzina CR, van Tintelen JP, Hoorntje TM, Mannens MMAM, Wilde AAM, Jongsma HJ, Rook MB, A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics. CARDIOVASC RES 2003;57 (4):1072-1078 [PubMed]
Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JPP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AAM, A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. CIRC RES 2003;92 (1):14-22 [PubMed]
Herfst LJ, Potet F, Bezzina CR, Groenewegen WA, Le Marec H, Hoorntje TM, Demolombe S, Baró I, Escande D, Jongsma HJ, Wilde AAM, Rook MB, Na+ channel mutation leading to loss of function and non-progressive cardiac conduction defects. J MOL CELL CARDIOL 2003;35 (5):549-557 [PubMed]
Tan HL, Bezzina CR, Smits JPP, Verkerk AO, Wilde AAM, Genetic control of sodium channel function. CARDIOVASC RES 2003;57 (4):961-973 [PubMed]
Tan HL, Bezzina CR, Smits JPP, Verkerk AO, Wilde AAM, Genetic control of sodium channel function (vol 57, pg 961, 2003). CARDIOVASC RES 2003;59 (3):799-802
Veldkamp MW, Wilders R, Baartscheer A, Zegers JG, Bezzina CR, Wilde AAM, Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families. CIRC RES 2003;92 (9):976-983 [PubMed]
Wilders R, Veldkamp MW, Baartscheer A, Zegers JG, Bezzina CR, Wilde AAM. Bradycardia in LQT3 patients: Insights from 0D models in: Anonymous A, editors. Engineering in Medicine and Biology Society, 2003. S.l.: s.n.; 2003. 1, p. 32-35
Bezzina CR, Tan HL, Pharmacological rescue of mutant ion channels. CARDIOVASC RES 2002;55 (2):229-232 [PubMed]
Smits JPP, Eckardt L, Probst V, Bezzina CR, Schott JJ, Remme CA, Haverkamp W, Breithardt G, Escande D, Schulze-Bahr E, Lemarec H, Wilde AAM, Genotype-phenotype relationship in Brugada syndrome: Electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients. J AM COLL CARDIOL 2002;40 (2):350-356 [PubMed]
van den Berg MP, Viersma JW, Beaufort-Krol GCM, Bink-Boelkens MTE, Bezzina CR, Veldkamp MW, Brouwer J, Haaksma J, van Tintelen JP, van Langen IM, Wouda AA, Wilde AAM, A large family characterised by nocturnal sudden death. NETH HEART J 2002;10 (7-8):304-312 [PubMed]
Wilde AAM, Tan HL, Bezzina CR, Familial primary arrhythmia syndromes: Nice to know or need to know. NETH HEART J 2002;10 (5):225-228 [PubMed]
Bezzina CR, Rook MB, Wilde AA, Cardiac sodium channel and inherited arrhythmia syndromes. CARDIOVASC RES 2001;49 (2):257-271 [PubMed]
Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, van den Berg MP, Wilde AA, Balser JR, A sodium-channel mutation causes isolated cardiac conduction disease. NATURE 2001;409 (6823):1043-1047 [PubMed]
van den Berg MP, Wilde AA, Viersma TJW, Brouwer J, Haaksma J, van der Hout AH, Stolte-Dijkstra I, Bezzina CR, van Langen IM, Beaufort-Krol GC, Cornel JH 2nd, Crijns HJ, Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome. J CARDIOVASC ELECTR 2001;12 (6):630-636 [PubMed]
Viswanathan PC, Bezzina CR, George AL Jr, Roden DM, Wilde AA, Balser JR, Gating-dependent mechanisms for flecainide action in SCN5A-linked arrhythmia syndromes. CIRCULATION 2001;104 (10):1200-1205 [PubMed]
Postma AV, Bezzina CR, de Vries JF, Wilde AA, Moorman AF, Mannens MM, Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3. HUM GENET 2000;106 (6):614-619 [PubMed]
Veldkamp MW, Viswanathan PC, Bezzina C, Baartscheer A, Wilde AA, Balser JR, Two distinct congenital arrhythmias evoked by a multidysfunctional Na(+) channel. CIRC RES 2000;86 (9):E91-E97 [PubMed]
Bezzina C, Veldkamp MW, van den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van der Hout AH, Mannens MM, Wilde AA, A single Na(+) channel mutation causing both long-QT and Brugada syndromes. CIRC RES 1999;85 (12):1206-1213 [PubMed]
Rook MB, Bezzina Alshinawi C, Groenewegen WA, van Gelder IC, van Ginneken AC, Jongsma HJ, Mannens MM, Wilde AA, Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. CARDIOVASC RES 1999;44 (3):507-517 [PubMed]
Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H, Cardiac conduction defects associate with mutations in SCN5A. NAT GENET 1999;23 (1):20-21 [PubMed]
Alshinawi C, Scerri C, Galdies R, Aquilina A, Felice AE, Two new missense mutations (P134T and A244V) in the coagulation factor VII gene. HUM MUTAT 1998;11 (Suppl. 1):S189-S191 [PubMed]
Felice AE, Alshinawi C, Polymerase chain Reaction in molecular biotechnology; appropriate technology for developing countries. WORLD J MICROB BIOT 1996;12 (5):467-471 [PubMed]
Key publications

Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R, Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. NAT GENET 2013;45 (9):1044-1049 [PubMed]
Lodder EM, de Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M , Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G, GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. AM J HUM GENET 2016;99 (3):704-710 [PubMed]
Marsman RF, Barc J, Beekman L, Alders M, Dooijes D, van den Wijngaard A, Ratbi I, Sefiani A, Bhuiyan ZA, Wilde AAM, Bezzina CR, A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence. J AM COLL CARDIOL 2014;63 (3):259-266 [PubMed]
Milano A, Vermeer AMC, Lodder EM, Barc J, Verkerk AO, Postma AV, van der Bilt IAC, Baars MJH, van Haelst PL, Caliskan K, Hoedemaekers YM, Le Scouarnec S, Redon R, Pinto YM, Christiaans I, Wilde AA, Bezzina CR, HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. J AM COLL CARDIOL 2014;64 (8):745-756 [PubMed]
Lodder EM, Scicluna BP, Milano A, Sun AY, Tang H, Remme CA, Moerland PD, Tanck MWT, Pitt GS, Marchuk DA, Bezzina CR, Dissection of a Quantitative Trait Locus for PR Interval Duration Identifies Tnni3k as a Novel Modulator of Cardiac Conduction. PLOS GENET 2012;8 (12):e1003113 [PubMed]


All Publications

Research programmes

Genetics of inherited cardiac disease

Faculty
Prof. dr. C.R. Bezzina

Postdocs
Dr. E.M. Lodder
Dr. I. Mengarelli

PhD Students
Drs. N. Lahrouchi MD
Drs. K.V. Lieve
F.C. Manevy
D. Milosavljevic
Drs. S. Podliesna
Drs. M.R. Rivaud
A.M.C. Vermeer MD

Others
D. Bakker BSc
L. Beekman
Drs. C. Glinge (University of Copenhagen)

Other research related activities
  • None reported
Current research funding
  • AMC
  • AMC (Vrijgesteld)
  • Heart Rhythm Society
  • Nederlandse Hartstichting
  • NWO
  • The Children's Heart Foundation