Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy BM Mayosi, M Fish, G Shaboodien, E Mastantuono, S Kraus, T Wieland, ... Circulation: Cardiovascular Genetics 10 (2), e001605, 2017 | 173 | 2017 |
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry L Crotti, C Spazzolini, DJ Tester, A Ghidoni, AE Baruteau, BM Beckmann, ... European heart journal 40 (35), 2964-2975, 2019 | 156 | 2019 |
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation S Castelletti, AS Vischer, P Syrris, L Crotti, C Spazzolini, A Ghidoni, ... International Journal of Cardiology 249, 268-273, 2017 | 85 | 2017 |
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls R Walsh, N Lahrouchi, R Tadros, F Kyndt, C Glinge, PG Postema, ... Genetics in medicine 23 (1), 47-58, 2021 | 74 | 2021 |
The genetics underlying idiopathic ventricular fibrillation: a special role for catecholaminergic polymorphic ventricular tachycardia? JT Leinonen, L Crotti, A Djupsjöbacka, S Castelletti, N Junna, A Ghidoni, ... International Journal of Cardiology 250, 139-145, 2018 | 46 | 2018 |
Exercise training-induced repolarization abnormalities masquerading as congenital long QT syndrome F Dagradi, C Spazzolini, S Castelletti, M Pedrazzini, MC Kotta, L Crotti, ... Circulation 142 (25), 2405-2415, 2020 | 45 | 2020 |
Calmodulinopathy: a novel, life-threatening clinical entity affecting the young MC Kotta, L Sala, A Ghidoni, B Badone, C Ronchi, G Parati, A Zaza, ... Frontiers in cardiovascular medicine 5, 175, 2018 | 37 | 2018 |
Mutation location and I Ks regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region PJ Schwartz, C Moreno, MC Kotta, M Pedrazzini, L Crotti, F Dagradi, ... European heart journal 42 (46), 4743-4755, 2021 | 32 | 2021 |
Calmodulinopathy: functional effects of CALM mutations and their relationship with clinical phenotypes B Badone, C Ronchi, MC Kotta, L Sala, A Ghidoni, L Crotti, A Zaza Frontiers in Cardiovascular Medicine 5, 176, 2018 | 31 | 2018 |
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry L Crotti, C Spazzolini, M Nyegaard, MT Overgaard, MC Kotta, F Dagradi, ... European heart journal 44 (35), 3357-3370, 2023 | 26 | 2023 |
Cadherin 2-related arrhythmogenic cardiomyopathy: prevalence and clinical features A Ghidoni, PM Elliott, P Syrris, H Calkins, CA James, DP Judge, B Murray, ... Circulation: Genomic and Precision Medicine 14 (2), e003097, 2021 | 25 | 2021 |
Genetics of peripartum cardiomyopathy: current knowledge, future directions and clinical implications TF Spracklen, G Chakafana, PJ Schwartz, MC Kotta, G Shaboodien, ... Genes 12 (1), 103, 2021 | 22 | 2021 |
Abnormal myocardial expression of SAP97 is associated with arrhythmogenic risk H Musa, CA Marcou, TJ Herron, MA Makara, DJ Tester, RP O’Connell, ... American Journal of Physiology-Heart and Circulatory Physiology 318 (6 …, 2020 | 17 | 2020 |
Estimating the Posttest Probability of Long QT Syndrome Diagnosis for Rare KCNH2 Variants K Kozek, Y Wada, L Sala, I Denjoy, C Egly, MJ O’Neill, T Aiba, W Shimizu, ... Circulation: Genomic and Precision Medicine 14 (4), e003289, 2021 | 11 | 2021 |
The role of genetics in primary ventricular fibrillation, inherited channelopathies and cardiomyopathies L Crotti, MC Kotta International Journal of Cardiology 237, 45-48, 2017 | 10 | 2017 |
Novel sodium channel SCN5A mutations in Brugada syndrome patients from Greece CM Kotta, A Anastasakis, K Gatzoulis, AS Manolis, C Stefanadis International journal of cardiology 145 (1), 45-48, 2010 | 9 | 2010 |
Cardiac genetic investigation of sudden infant and early childhood death: a study from victims to families MC Kotta, M Torchio, P Bayliss, MC Cohen, O Quarrell, N Wheeldon, ... Journal of the American Heart Association 12 (17), e029100, 2023 | 7 | 2023 |
Sudden infant death syndrome and genetics: don’t throw out the infant with the dirty water PJ Schwartz, MC Kotta Journal of the American College of Cardiology 71 (11), 1228-1230, 2018 | 7 | 2018 |
Cardiac ion channel gene mutations in Greek long QT syndrome patients CM Kotta, A Anastasakis, K Gatzoulis, J Papagiannis, P Geleris, ... Journal of applied genetics 51, 515-518, 2010 | 7 | 2010 |
Phenotype reveals genotype in a Greek long QT syndrome family A Anastasakis, CM Kotta, S Kyriakogonas, B Wollnik, A Theopistou, ... Europace 8 (4), 241-244, 2006 | 7 | 2006 |