Sudden cardiac arrest associated with early repolarization M Haïssaguerre, N Derval, F Sacher, L Jesel, I Deisenhofer, L de Roy, ... New England Journal of Medicine 358 (19), 2016-2023, 2008 | 1878 | 2008 |
Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans H Watanabe, TT Koopmann, S Le Scouarnec, T Yang, CR Ingram, ... The Journal of clinical investigation 118 (6), 2260-2268, 2008 | 589 | 2008 |
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 | 336 | 2009 |
HCN4 Mutations in Multiple Families With Bradycardia and Left Ventricular Noncompaction Cardiomyopathy A Milano, AMC Vermeer, EM Lodder, J Barc, AO Verkerk, AV Postma, ... Journal of the American College of Cardiology 64 (8), 745-756, 2014 | 216 | 2014 |
Defining the Cellular Phenotype of “Ankyrin-B Syndrome” Variants: Human ANK2 Variants Associated With Clinical Phenotypes Display a Spectrum of Activities in … PJ Mohler, S Le Scouarnec, I Denjoy, JS Lowe, P Guicheney, L Caron, ... Circulation 115 (4), 432-441, 2007 | 200 | 2007 |
Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease S Le Scouarnec, N Bhasin, C Vieyres, TJ Hund, SR Cunha, O Koval, ... Proceedings of the National Academy of Sciences 105 (40), 15617-15622, 2008 | 196 | 2008 |
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome S Le Scouarnec, M Karakachoff, JB Gourraud, P Lindenbaum, S Bonnaud, ... Human molecular genetics 24 (10), 2757-2763, 2015 | 148 | 2015 |
Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics S Le Scouarnec, SM Gribble Heredity 108 (1), 75-85, 2012 | 137 | 2012 |
Familial aggregation of calcific aortic valve stenosis in the western part of France V Probst, S Le Scouarnec, A Legendre, V Jousseaume, P Jaafar, ... Circulation 113 (6), 856-860, 2006 | 135 | 2006 |
Identification of large families in early repolarization syndrome JB Gourraud, S Le Scouarnec, F Sacher, S Chatel, N Derval, V Portero, ... Journal of the American College of Cardiology 61 (2), 164-172, 2013 | 110 | 2013 |
Variable Nav1.5 Protein Expression from the Wild-Type Allele Correlates with the Penetrance of Cardiac Conduction Disease in the Scn5a+/− Mouse Model AL Leoni, B Gavillet, JS Rougier, C Marionneau, V Probst, ... PloS one 5 (2), e9298, 2010 | 92 | 2010 |
Genetics of syndromic and non-syndromic mitral valve prolapse T Le Tourneau, J Mérot, A Rimbert, S Le Scouarnec, V Probst, H Le Marec, ... Heart 104 (12), 978-984, 2018 | 89 | 2018 |
The Brugada syndrome: a rare arrhythmia disorder with complex inheritance JB Gourraud, J Barc, A Thollet, S Le Scouarnec, H Le Marec, JJ Schott, ... Frontiers in cardiovascular medicine 3, 9, 2016 | 82 | 2016 |
New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study T Le Tourneau, S Le Scouarnec, C Cueff, D Bernstein, JJJ Aalberts, ... European heart journal 39 (15), 1269-1277, 2018 | 78 | 2018 |
Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I X Daumy, MY Amarouch, P Lindenbaum, S Bonnaud, E Charpentier, ... International journal of cardiology 207, 349-358, 2016 | 62 | 2016 |
Rare coding variants in ANGPTL6 are associated with familial forms of intracranial aneurysm R Bourcier, S Le Scouarnec, S Bonnaud, M Karakachoff, E Bourcereau, ... The American Journal of Human Genetics 102 (1), 133-141, 2018 | 56 | 2018 |
Fine-scale human genetic structure in Western France M Karakachoff, N Duforet-Frebourg, F Simonet, S Le Scouarnec, N Pellen, ... European Journal of Human Genetics 23 (6), 831-836, 2015 | 48 | 2015 |
Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease SR Cunha, S Le Scouarnec, JJ Schott, PJ Mohler Journal of molecular and cellular cardiology 45 (6), 724-734, 2008 | 47 | 2008 |
Knime4Bio: a set of custom nodes for the interpretation of next-generation sequencing data with KNIME P Lindenbaum, S Le Scouarnec, V Portero, R Redon Bioinformatics 27 (22), 3200-3201, 2011 | 43 | 2011 |
Dysfunction of the Voltage‐Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome V Portero, S Le Scouarnec, Z Es‐Salah‐Lamoureux, S Burel, ... Journal of the American Heart Association 5 (6), e003122, 2016 | 33 | 2016 |