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Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study
Hilla Gerard
,
Nicolas Iline
,
Hélène Martel
,
Karine Nguyen
,
Pascale Richard
,
et al.
Journal articles
hal-03999097v1
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Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure
Mohammed Majid Akhtar
,
Massimiliano Lorenzini
,
Menelaos Pavlou
,
Juan Pablo Ochoa
,
Constantinos O’mahony
,
et al.
Journal articles
hal-03280888v1
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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
Flavie Ader
,
Pascal de Groote
,
Patricia Réant
,
Caroline Rooryck-Thambo
,
Delphine Dupin-Deguine
,
et al.
Journal articles
hal-02268422v1
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Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity
Pascale Richard
,
Flavie Ader
,
Maguelonne Roux
,
Erwan Donal
,
Jean-Christophe Eicher
,
et al.
Journal articles
hal-02055778v1
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A 14q distal chromoanagenesis elucidated by whole genome sequencing
Flavie Ader
,
Solveig Heide
,
Pauline Marzin
,
Alexandra Afenjar
,
Flavie Diguet
,
et al.
Journal articles
hal-03489514v1
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A novel gain‐of‐function mutation in SCN5A responsible for multifocal ectopic Purkinje‐related premature contractions
Nicolas Doisne
,
Victor Waldmann
,
Alban Redheuil
,
Xavier Waintraub
,
Véronique Fressart
,
et al.
Journal articles
hal-02934592v1
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Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases
Benoit Rucheton
,
Flavie Ader
,
David Goudenege
,
Sandrine Filaut
,
Laura Legrand
,
et al.
Journal articles
inserm-03996709v1
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Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study
Celine Bordet
,
Sandrine Brice
,
Carole Maupain
,
Estelle Gandjbakhch
,
Bertrand Isidor
,
et al.
Journal articles
hal-02882035v1
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Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction
Marie Cambon-Viala
,
Hilla Gerard
,
Karine Nguyen
,
Pascale Richard
,
Flavie Ader
,
et al.
Journal articles
hal-04073195v1
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High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations: Authors’ reply
Pascale Richard
,
Flavie Ader
Journal articles
hal-04003544v1
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High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations
Julien Thevenon
,
Gabriel Laurent
,
Flavie Ader
,
Pascal Laforêt
,
Didier Klug
,
et al.
Journal articles
hal-01444277v1
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Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis
Flavie Ader
,
Elodie Surget
,
Philippe Charron
,
Alban Redheuil
,
Amir Zouaghi
,
et al.
Journal articles
inserm-03996719v1
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Genotype-phenotype correlations of pathogenic variants in the FLNC gene
Flavie Ader
,
Eric Villard
,
Céline Ledeuil
,
Philippe Charron
,
Pascale Richard
Journal articles
inserm-03996754v1
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External validation of risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers
Marine Thuillot
,
Carole Maupain
,
Estelle Gandjbakhch
,
Xavier Waintraub
,
Françoise Hidden-Lucet
,
et al.
Journal articles
hal-02153574v1
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Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant
Flavie Ader
,
Laetitia Duboscq-Bidot
,
Sibylle Marteau
,
Matthieu Hamlin
,
Pascale Richard
,
et al.
Journal articles
hal-03475229v1
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Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers
Alexandre Rouen
,
Léa Carlier
,
Solveig Heide
,
Matthieu Egloff
,
Pauline Marzin
,
et al.
Journal articles
inserm-03867866v1
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Saw-Tooth Cardiomyopathy: Clinical Presentation and Genetic Analysis
Julie Proukhnitzky
,
Jérôme Garot
,
Céline Bordet
,
Lise Legrand
,
Flavie Ader
,
et al.
Journal articles
inserm-03996698v1
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Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition
Marie Gizon
,
Laëtitia Duboscq-Bidot
,
Lina El Kassar
,
Pierre Bobin
,
Flavie Ader
,
et al.
Journal articles
hal-03549731v1
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Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies
Nathalie Vadrot
,
Flavie Ader
,
Maryline Moulin
,
Marie Merlant
,
Françoise Chapon
,
et al.
Journal articles
hal-04000619v1
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Identification de variants du gène FLNC dans les cardiomyopathies humaines et modélisations fonctionnelles chez la drosophile et dans des pseudo-tissus cardiaques
Flavie Ader
Theses
tel-03583894v1
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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations
Flavie Ader
,
Pascal de Groote
,
Patricia Réant
,
Caroline Rooryck-Thambo
,
Delphine Dupin-Deguine
,
et al.
Journal articles
hal-02393778v1
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