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Statistical tests for Rare Variants Data Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

 Lise Bellanger , Elodie Persyn , Floriane Simonet , Richard Redon , Jean-Jacques Schott , et al.
International Biometric Conference, Jul 2014, Florence, Italy
Poster de conférence hal-01160576v1

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

 Yanushi Wijeyeratne , Michael Tanck , Yuka Mizusawa , Velislav Batchvarov , Julien Barc , et al.
Circulation: Genomic and Precision Medicine, 2020, 13 (6), ⟨10.1161/CIRCGEN.120.002911⟩
Article dans une revue hal-04000097v1

Genetics of syndromic and non-syndromic mitral valve prolapse

 Thierry Le Tourneau , Jean Mérot , Antoine Rimbert , Solena Le Scouarnec , Vincent Probst , et al.
Heart, 2018, Equipe I, 104 (12), pp.978 - 984. ⟨10.1136/heartjnl-2017-312420⟩
Article dans une revue hal-01833921v1
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Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

 Nobue Yagihara , Hiroshi Watanabe , Phil Barnett , Laetitia Duboscq-Bidot , Atack C. Thomas , et al.
Journal of the American Heart Association, 2016, 5 (9), ⟨10.1161/JAHA.116.003644⟩
Article dans une revue hal-01831755v1

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

 Paola G Meregalli , Hanno L Tan , Vincent Probst , Tamara T Koopmann , Michael W Tanck , et al.
Heart Rhythm, 2009, 6 (3), pp.341-8. ⟨10.1016/j.hrthm.2008.11.009⟩
Article dans une revue hal-00913229v1
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Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block.

 Alban-Elouen Baruteau , Albin Behaghel , Swanny Fouchard , Philippe Mabo , Jean-Jacques Schott , et al.
Circulation, 2012, 126 (12), pp.1469-77. ⟨10.1161/CIRCULATIONAHA.111.069161⟩
Article dans une revue hal-00880957v1
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MVP-Associated Filamin A Mutations Affect FlnA-PTPN12 (PTP-PEST) Interactions

 Damien Duval , Pauline Labbé , Léa Bureau , Thierry Le Tourneau , Russell A. Norris , et al.
Journal of Cardiovascular Development and Disease, 2015, Equipe 3, 2 (3), pp.233--247. ⟨10.3390/jcdd2030233⟩
Article dans une revue hal-01830581v1
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TRPM4 non-selective cation channel variants in long QT syndrome

 Thomas Hof , Hui Liu , Laurent Sallé , Jean-Jacques Schott , Corinne Ducreux , et al.
BMC Medical Genetics, 2017, Equipe I, 18 (1), pp.31. ⟨10.1186/s12881-017-0397-4⟩
Article dans une revue hal-01832144v1

0211 : Implications of baselines 2010 task force criterias on ventricular arrhythmias in ARVC

 Nelly Amara , Jean-Baptiste Gourraud , Arnaud Denis , Philippe Mabo , Aurélie Thollet , et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.169, ⟨10.1016/S1878-6480(15)30103-8⟩
Communication dans un congrès hal-01150489v1

0185 : Genetic screening identifies a high proportion of mutations in patients with idiopathic ventricular fibrillation and sudden cardiac death

 Vincent Probst , Solena Le Scouarnec , Florence Kyndt , Jean-Jacques Schott , Jean-Baptiste Gourraud , et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.170, ⟨10.1016/S1878-6480(15)30107-5⟩
Communication dans un congrès hal-01150486v1

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway

 Pauline Labbé , Emilie Faure , Simon Lecointe , Solena Le Scouarnec , Florence Kyndt , et al.
BBA - Biochimica et Biophysica Acta, 2017, Equipe I, 1864 (7), pp.1142-1152. ⟨10.1016/j.bbamcr.2017.03.008⟩
Article dans une revue hal-01832152v1
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Mutations in DCHS1 cause mitral valve prolapse

 Ronen Durst , Kimberly Sauls , David S. Peal , Annemarieke Devlaming , Katelynn Toomer , et al.
Nature, 2015, Equipe 3, 525 (7567), pp.109--113. ⟨10.1038/nature14670⟩
Article dans une revue hal-01830584v1

Detection, cloning, and distribution of minisatellites in some mammalian genomes.

 Gilles Vergnaud , D Gauguier , J J Schott , D Lepetit , V Lauthier , et al.
EXS, 1992, 67, pp.47-57. ⟨10.1007/978-3-0348-8583-6_4⟩
Article dans une revue hal-01160685v1

Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome

 Pauline Etienne , François Huchet , Nathalie Gaborit , Julien Barc , Aurélie Thollet , et al.
EP-Europace, 2018, Equipe I Equipe IIa, ⟨10.1093/europace/euy078⟩
Article dans une revue hal-01833912v1
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Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2

 Iris C. R. M. Kolder , Michael W. T. Tanck , Pieter G. Postema , Julien Barc , Moritz F. Sinner , et al.
Circulation. Cardiovascular Genetics, 2015, 8 (3), pp.447--456. ⟨10.1161/CIRCGENETICS.114.000785⟩
Article dans une revue hal-01830596v1

0186 : Genotype/phenotype relationship in a large cohort of long QT syndrome patients

 Aurélie Thollet , Philippe Mabo , Dominique Babuty , Jacques Mansourati , Jean-Marc Davy , et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.171, ⟨10.1016/S1878-6480(15)30109-9⟩
Communication dans un congrès hal-01150487v1
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Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

 Julien Barc , Rafik Tadros , Charlotte Glinge , David Chiang , Mariam Jouni , et al.
Nature Genetics, In press, ⟨10.1038/s41588-022-01079-y⟩
Article dans une revue hal-03656107v1

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome

 Najim Lahrouchi , Rafik Tadros , Lia Crotti , Yuka Mizusawa , Pieter Postema , et al.
Circulation, 2020, 142 (4), pp.324-338. ⟨10.1161/CIRCULATIONAHA.120.045956⟩
Article dans une revue hal-02946905v1

0210 : Effect of SCN5A mutations and SCN10A, SCN5A and HEY2 frequent variants on ECG of Brugada patients during ajmaline test

 Dylan Therasse , Floriane Simonet , Christian Dina , Aurélie Thollet , Philippe Mabo , et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.170--171, ⟨10.1016/S1878-6480(15)30108-7⟩
Communication dans un congrès hal-01150488v1
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Dysfunction of the Voltage-Gated K+ Channel beta 2 Subunit in a Familial Case of Brugada Syndrome

 Vincent Portero , Solena Le Scouarnec , Zeineb Es-Salah-Lamoureux , Sophie Burel , Jean-Baptiste Gourraud , et al.
Journal of the American Heart Association, 2016, 5 (6), pp.e003122. ⟨10.1161/JAHA.115.003122⟩
Article dans une revue hal-01414464v1
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The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

 Jean-Baptiste Gourraud , Julien Barc , Aurélie Thollet , Solena Le Scouarnec , Hervé Le Marec , et al.
Frontiers in Cardiovascular Medicine, 2016, 3, pp.9. ⟨10.3389/fcvm.2016.00009⟩
Article dans une revue hal-01831587v1

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

 Solena Le Scouarnec , N. Bhasin , C. Vieyres , T. J. Hund , S. R. Cunha , et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008, 105 (40), pp.15617-22. ⟨10.1073/pnas.0805500105⟩
Article dans une revue hal-02363777v1
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

 Julien Barc , Rafik Tadros , Charlotte Glinge , David Chiang , Mariam Jouni , et al.
Nature Genetics, 2022, 54 (3), pp.232-239. ⟨10.1038/s41588-021-01007-6⟩
Article dans une revue hal-03589076v1

Genetic Association Analyses Highlight IL6 , ALPL , and NAV1 As 3 New Susceptibility Genes Underlying Calcific Aortic Valve Stenosis

 Sébastien Thériault , Christian Dina , David Messika-Zeitoun , Solena Le Scouarnec , Romain Capoulade , et al.
Circulation: Genomic and Precision Medicine, 2019, 12 (10), pp.431-441. ⟨10.1161/CIRCGEN.119.002617⟩
Article dans une revue hal-02355156v1

Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model

 A. L. Leoni , B. Gavillet , J. S. Rougier , Céline Marionneau , Vincent Probst , et al.
PLoS ONE, 2010, 5 (2), pp.e9298. ⟨10.1371/journal.pone.0009298⟩
Article dans une revue hal-02363778v1

Identification of Large Families in Early Repolarization Syndrome.

 Jean-Baptiste Gourraud , Solena Le Scouarnec , Frederic Sacher , Stéphanie Chatel , Nicolas Derval , et al.
Journal of the American College of Cardiology, 2013, 61 (2), pp.164-72. ⟨10.1016/j.jacc.2012.09.040⟩
Article dans une revue hal-00879642v1
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SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.

 Vincent Probst , Arthur a M Wilde , Julien Barc , Frederic Sacher , Dominique Babuty , et al.
Circulation: Cardiovascular Genetics, 2009, 2 (6), pp.552-7. ⟨10.1161/CIRCGENETICS.109.853374⟩
Article dans une revue hal-00750425v1
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Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

 Antoine Rimbert , Matthieu Pichelin , Simon Lecointe , Marie Marrec , Solena Le Scouarnec , et al.
Atherosclerosis, 2016, Equipe 3 Equipe 4 Equipe 5, 250, pp.52--56. ⟨10.1016/j.atherosclerosis.2016.04.010⟩
Article dans une revue hal-01831745v1

Fine-scale human genetic structure in Western France

 M. Karakachoff , N. Duforet-Frebourg , F. Simonet , S. Le Scouarnec , Nadine Pellen , et al.
European Journal of Human Genetics, 2014, 23, pp.831-836. ⟨10.1038/ejhg.2014.175⟩
Article dans une revue hal-02113285v1

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy

 Vinh Tran , F. Kyndt , J.P. Gueffet , V. Probst , P. Jaafar , et al.
Circulation, 2007, 115 (1), pp.40-9
Article dans une revue hal-00172816v1
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