De novo mutations in histone-modifying genes in congenital heart disease S Zaidi, M Choi, H Wakimoto, L Ma, J Jiang, JD Overton, ... Nature 498 (7453), 220-223, 2013 | 982 | 2013 |
2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of Cardiology (ESC) E Arbelo, A Protonotarios, JR Gimeno, E Arbustini, R Barriales-Villa, ... European heart journal 44 (37), 3503-3626, 2023 | 854 | 2023 |
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes JP Kaski, P Syrris, M Burch, MT Tome-Esteban, M Fenton, M Christiansen, ... Heart 94 (11), 1478-1484, 2008 | 244 | 2008 |
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy JP Kaski, P Syrris, MTT Esteban, S Jenkins, A Pantazis, JE Deanfield, ... Circulation: Cardiovascular Genetics 2 (5), 436-441, 2009 | 236 | 2009 |
Development of a novel risk prediction model for sudden cardiac death in childhood hypertrophic cardiomyopathy (HCM Risk-Kids) G Norrish, T Ding, E Field, L Ziółkowska, I Olivotto, G Limongelli, ... JAMA cardiology 4 (9), 918-927, 2019 | 190 | 2019 |
Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene F Pasquale, P Syrris, JP Kaski, J Mogensen, WJ McKenna, P Elliott Circulation: Cardiovascular Genetics 5 (1), 10-17, 2012 | 167 | 2012 |
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 | 159 | 2019 |
The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with … P Charron, PM Elliott, JR Gimeno, ALP Caforio, JP Kaski, L Tavazzi, ... European heart journal 39 (20), 1784-1793, 2018 | 151 | 2018 |
Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers M Lorenzini, G Norrish, E Field, JP Ochoa, M Cicerchia, MM Akhtar, ... Journal of the American College of Cardiology 76 (5), 550-559, 2020 | 142 | 2020 |
Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD) R Prasad, LF Chan, CR Hughes, JP Kaski, JC Kowalczyk, MO Savage, ... The Journal of Clinical Endocrinology & Metabolism 99 (8), E1556-E1563, 2014 | 130 | 2014 |
Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial M Mullen, XY Jin, A Child, AG Stuart, M Dodd, JA Aragon-Martin, D Gaze, ... The Lancet 394 (10216), 2263-2270, 2019 | 124 | 2019 |
Hypertrophic cardiomyopathy in children JP Moak, JP Kaski Heart 98 (14), 1044-1054, 2012 | 116 | 2012 |
Risk factors for sudden cardiac death in childhood hypertrophic cardiomyopathy: a systematic review and meta-analysis G Norrish, N Cantarutti, E Pissaridou, DA Ridout, G Limongelli, PM Elliott, ... European journal of preventive cardiology 24 (11), 1220-1230, 2017 | 114 | 2017 |
Clinical presentation and survival of childhood hypertrophic cardiomyopathy: a retrospective study in United Kingdom G Norrish, E Field, K Mcleod, M Ilina, G Stuart, V Bhole, O Uzun, E Brown, ... European heart journal 40 (12), 986-993, 2019 | 106 | 2019 |
Outcomes after implantable cardioverter-defibrillator treatment in children with hypertrophic cardiomyopathy JP Kaski, MTT Esteban, M Lowe, S Sporton, P Rees, JE Deanfield, ... Heart 93 (3), 372-374, 2007 | 93 | 2007 |
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results G Calcagni, G Limongelli, A D'Ambrosio, F Gesualdo, MC Digilio, ... International journal of cardiology 245, 92-98, 2017 | 91 | 2017 |
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis A Lopez-Sainz, F Dominguez, LR Lopes, JP Ochoa, R Barriales-Villa, ... Journal of the American College of Cardiology 76 (2), 186-197, 2020 | 77 | 2020 |
Yield of clinical screening for hypertrophic cardiomyopathy in child first-degree relatives: evidence for a change in paradigm G Norrish, J Jager, E Field, E Quinn, H Fell, E Lord, MN Cicerchia, ... Circulation 140 (3), 184-192, 2019 | 77 | 2019 |
The classification concept of the ESC Working Group on myocardial and pericardial diseases for dilated cardiomyopathy JP Kaski, P Elliott Herz 32 (6), 446, 2007 | 67 | 2007 |
Long-term safety and efficacy of mexiletine for patients with skeletal muscle channelopathies KJ Suetterlin, E Bugiardini, JP Kaski, JM Morrow, E Matthews, MG Hanna, ... JAMA neurology 72 (12), 1531-1533, 2015 | 64 | 2015 |