| Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias PJ Schwartz, SG Priori, C Spazzolini, AJ Moss, GM Vincent, C Napolitano, ... Circulation 103 (1), 89-95, 2001 | 2241 | 2001 |
| A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy P Vicart, A Caron, P Guicheney, Z Li, MC Prévost, A Faure, D Chateau, ... Nature genetics 20 (1), 92-95, 1998 | 1267 | 1998 |
| A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome N Neyroud, F Tesson, I Denjoy, M Leibovici, C Donger, J Barhanin, ... Nature genetics 15 (2), 186-189, 1997 | 1077 | 1997 |
| An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing JD Kapplinger, DJ Tester, M Alders, B Benito, M Berthet, J Brugada, ... Heart rhythm 7 (1), 33-46, 2010 | 793 | 2010 |
| Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy A Helbling-Leclerc, X Zhang, H Topaloglu, C Cruaud, F Tesson, ... Nature genetics 11 (2), 216-218, 1995 | 748 | 1995 |
| Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan M Brockington, DJ Blake, P Prandini, SC Brown, S Torelli, MA Benson, ... The American Journal of Human Genetics 69 (6), 1198-1209, 2001 | 667 | 2001 |
| Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia M Hayashi, I Denjoy, F Extramiana, A Maltret, NR Buisson, ... Circulation 119 (18), 2426-2434, 2009 | 599 | 2009 |
| Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death CR Bezzina, J Barc, Y Mizusawa, CA Remme, JB Gourraud, F Simonet, ... Nature genetics 45 (9), 1044-1049, 2013 | 540 | 2013 |
| Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia AV Postma, I Denjoy, TM Hoorntje, JM Lupoglazoff, A Da Costa, ... Circulation research 91 (8), e21-e26, 2002 | 507 | 2002 |
| Mutations in dynamin 2 cause dominant centronuclear myopathy M Bitoun, S Maugenre, PY Jeannet, E Lacene, X Ferrer, P Laforêt, ... Nature genetics 37 (11), 1207-1209, 2005 | 488 | 2005 |
| KVLQT1 C-Terminal Missense Mutation Causes a Forme Fruste Long-QT Syndrome C Donger, I Denjoy, M Berthet, N Neyroud, C Cruaud, M Bennaceur, ... Circulation 96 (9), 2778-2781, 1997 | 477 | 1997 |
| Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology … A Ferreiro, S Quijano-Roy, C Pichereau, B Moghadaszadeh, N Goemans, ... The American Journal of Human Genetics 71 (4), 739-749, 2002 | 395 | 2002 |
| Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome B Moghadaszadeh, N Petit, C Jaillard, M Brockington, SQ Roy, L Merlini, ... Nature genetics 29 (1), 17-18, 2001 | 392 | 2001 |
| Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients AV Postma, I Denjoy, J Kamblock, M Alders, JM Lupoglazoff, G Vaksmann, ... Journal of medical genetics 42 (11), 863-870, 2005 | 366 | 2005 |
| Properties of KvLQT1 K+ channel mutations in Romano–Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias C Chouabe, N Neyroud, P Guicheney, M Lazdunski, G Romey, ... The EMBO journal 16 (17), 5472-5479, 1997 | 345 | 1997 |
| SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome V Probst, AAM Wilde, J Barc, F Sacher, D Babuty, P Mabo, J Mansourati, ... Circulation: Cardiovascular Genetics 2 (6), 552-557, 2009 | 322 | 2009 |
| Mutations in the selenocysteine insertion sequence–binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans E Schoenmakers, M Agostini, C Mitchell, N Schoenmakers, L Papp, ... The Journal of clinical investigation 120 (12), 4220-4235, 2010 | 316 | 2010 |
| Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human N Roux-Buisson, M Cacheux, A Fourest-Lieuvin, J Fauconnier, J Brocard, ... Human molecular genetics 21 (12), 2759-2767, 2012 | 312 | 2012 |
| De novo LMNA mutations cause a new form of congenital muscular dystrophy S Quijano‐Roy, B Mbieleu, CG Bönnemann, PY Jeannet, J Colomer, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 306 | 2008 |
| Hydroquinidine therapy in Brugada syndrome JS Hermida, I Denjoy, J Clerc, F Extramiana, G Jarry, P Milliez, ... Journal of the American College of Cardiology 43 (10), 1853-1860, 2004 | 305 | 2004 |
