Juan Pablo Kaski
Juan Pablo Kaski
Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital and University College London
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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
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
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
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
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
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
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
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
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
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
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
Hypertrophic cardiomyopathy in children
JP Moak, JP Kaski
Heart 98 (14), 1044-1054, 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
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
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
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
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
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
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
Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle
EC Dyer, AM Jacques, AC Hoskins, DG Ward, CE Gallon, AE Messer, ...
Circulation: Heart Failure 2 (5), 456-464, 2009
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