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Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve
Sébastien Thériault
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Jacob Holdcraft
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Dinara Sharipova
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Adèle Faucherre
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Radoslaw Debiec
et al.
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
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Fernanda M. Bosada
,
Uira Souto Melo
,
Takanori Aizawa
et al.
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
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Adèle Faucherre
,
Damien Marchese
,
Amélie Pinard
,
Hager Jaouadi
et al.
Article dans une revue
hal-04044322v1
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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.
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.
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.
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.
Article dans une revue
hal-03659581v1
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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.
Article dans une revue
hal-03231070v1
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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.
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.
Article dans une revue
hal-05226497v1
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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.
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.
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.
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.
Article dans une revue
hal-01839275v1
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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.
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.
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.
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.
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.
Article dans une revue
hal-01414464v1
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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.
Article dans une revue
hal-01831586v1
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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.
Article dans une revue
hal-01201946v1
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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.
Article dans une revue
hal-00992887v1
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Identification of Large Families in Early Repolarization Syndrome.
Jean-Baptiste Gourraud
,
Solena Le Scouarnec
,
Frederic Sacher
,
Stéphanie Chatel
,
Nicolas Derval
et al.
Article dans une revue
hal-00879642v1
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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.
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.
Article dans une revue
hal-00750425v1
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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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