SOLENA LE SCOUARNEC

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Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve

Sébastien Thériault , Jacob Holdcraft , Dinara Sharipova , Adèle Faucherre , Radoslaw Debiec et al.

Circulation, 2026, Online ahead of print. ⟨10.1161/CIRCULATIONAHA.125.074752⟩

Article dans une revue hal-05505768v1
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TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.

Manon Baudic , Hiroshige Murata , Fernanda M. Bosada , Uira Souto Melo , Takanori Aizawa et al.

Nature Communications, 2024, Nature Communications, 15 (1), pp.3380. ⟨10.1038/s41467-024-47739-x⟩

Article dans une revue hal-04630944v1
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Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Gaelle Odelin , Adèle Faucherre , Damien Marchese , Amélie Pinard , Hager Jaouadi et al.

Nature Communications, 2023, 14 (1), pp.1543. ⟨10.1038/s41467-023-37110-x⟩

Article dans une revue hal-04044322v1

Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study

Hao Yu Chen , Christian Dina , Aeron Small , Christian Shaffer , Rebecca Levinson et al.

European Heart Journal, 2023, ⟨10.1093/eurheartj/ehad142⟩

Article dans une revue hal-04528694v1
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Genetics and pathophysiology of mitral valve prolapse

Constance Delwarde , Romain Capoulade , Jean Merot , Solena Le Scouarnec , Nabila Bouatia-Naji et al.

Frontiers in Cardiovascular Medicine, 2023, 10, pp.1077788. ⟨10.3389/fcvm.2023.1077788⟩

Article dans une revue hal-04247878v1
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Machine Learning–Based Phenogrouping in Mitral Valve Prolapse Identifies Profiles Associated With Myocardial Fibrosis and Cardiovascular Events

Olivier Huttin , Nicolas Girerd , Antoine Jobbe-Duval , Anne-Laure Constant Dit Beaufils , Thomas Senage et al.

JACC: Cardiovascular Imaging, 2023, 16 (10), pp.1271-1284. ⟨10.1016/j.jcmg.2023.03.009⟩

Article dans une revue hal-04102227v1
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Heritability of aortic valve stenosis and bicuspid enrichment in families with aortic valve stenosis

Anne-Sophie Boureau , Matilde Karakachoff , Solena Le Scouarnec , Romain Capoulade , Caroline Cueff et al.

International Journal of Cardiology, 2022, 359, pp.91-98. ⟨10.1016/j.ijcard.2022.04.022⟩

Article dans une revue hal-03659581v1

Replacement Myocardial Fibrosis in Patients With Mitral Valve Prolapse: Relation to Mitral Regurgitation, Ventricular Remodeling, and Arrhythmia

Anne-Laure Constant Dit Beaufils , Olivier Huttin , Antoine Jobbé-Duval , Thomas Sénage , Laura Filippetti et al.

Circulation, 2021, 143 (18), pp.1763-1774. ⟨10.1161/CIRCULATIONAHA.120.050214⟩

Article dans une revue hal-03231070v1

RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome

Nadjet Belbachir , Vincent Portero , Zeina Al Sayed , Jean-Baptiste Gourraud , Florian Dilasser et al.

European Heart Journal, 2019, ⟨10.1093/eurheartj/ehz308⟩

Article dans une revue inserm-02158572v1
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Primary cilia defects causing mitral valve prolapse

Katelynn A Toomer , Mengyao Yu , Diana Fulmer , Lilong Guo , Kelsey S Moore et al.

Science Translational Medicine, 2019, 11 (493), ⟨10.1126/scitranslmed.aax0290⟩

Article dans une revue hal-05226497v1

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
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Genetics of syndromic and non-syndromic mitral valve prolapse

Thierry Le Tourneau , Jean Merot , Antoine Rimbert , Solena Le Scouarnec , Vincent Probst et al.

Heart, 2018, 104 (12), pp.978-984. ⟨10.1136/heartjnl-2017-312420⟩

Article dans une revue hal-04754059v1
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Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm

Romain Bourcier , Solena Le Scouarnec , Stéphanie Bonnaud , Matilde Karakachoff , Emmanuelle Bourcereau et al.

American Journal of Human Genetics, 2018, 102 (1), pp.133 - 141. ⟨10.1016/j.ajhg.2017.12.006⟩

Article dans une revue hal-01808225v1
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Localized Structural Alterations Underlying a Subset of Unexplained Sudden Cardiac Death

Michel Haïssaguerre , Mélèze Hocini , Ghassen Cheniti , Josselin Duchateau , Fréderic Sacher et al.

Circulation. Arrhythmia and electrophysiology, 2018, 11 (7), pp.e006120. ⟨10.1161/CIRCEP.117.006120⟩

Article dans une revue hal-01839275v1

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study

Thierry Le Tourneau , Solena Le Scouarnec , Thierry Le Tourneau , Daniel Bernstein , Jan J. J. Aalberts et al.

European Heart Journal, 2018, Equipe I, 39 (15), pp.1269--1277. ⟨10.1093/eurheartj/ehx505⟩

Article dans une revue hal-01833318v1
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An association test to detect clustered disease-risk rare variants

Elodie Persyn , Matilde Karakachoff , Solena Le Scouarnec , Camille Le Clézio , Dominique Campion et al.

PLoS ONE, 2017, 12 (7), pp.e0179364. ⟨10.1371/journal.pone.0179364⟩

Article dans une revue hal-01801793v1
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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
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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
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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

Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

Xavier Daumy , Mohamed-Yassine Amarouch , Pierre Lindenbaum , Stéphanie Bonnaud , Eric Charpentier et al.

International Journal of Cardiology, 2016, Equipe 3 Equipe 4, 207, pp.349--358. ⟨10.1016/j.ijcard.2016.01.052⟩

Article dans une revue hal-01831586v1

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome

Solena Le Scouarnec , Matilde Karakachoff , Jean-Baptiste Gourraud , Pierre Lindenbaum , Stéphanie Bonnaud et al.

Human Molecular Genetics, 2015, 24 (10), pp.2757--2763. ⟨10.1093/hmg/ddv036⟩

Article dans une revue hal-01201946v1

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss of function mutation.

Thomas Pambrun , Aurélie Mercier , Aurélien Chatelier , Sylvie Patri , Jean-Jacques Schott et al.

Heart Rhythm, 2014, epub ahead of print. ⟨10.1016/j.hrthm.2014.04.026⟩

Article dans une revue hal-00992887v1

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

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
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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

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