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authFullName_s : Flavie Ader

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.
Frontiers in Cardiovascular Medicine, 2022, 9, ⟨10.3389/fcvm.2022.856160⟩
Journal articles hal-03999097v1

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.
JAMA Cardiology, 2021, ⟨10.1001/jamacardio.2021.1106⟩
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.
Clinical Genetics, 2019, 96 (4), pp.317-329. ⟨10.1111/cge.13594⟩
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.
Clinical Genetics, 2019, 95 (3), pp.356-367. ⟨10.1111/cge.13484⟩
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.
European Journal of Medical Genetics, 2020, 63 (4), pp.103776. ⟨10.1016/j.ejmg.2019.103776⟩
Journal articles hal-03489514v1

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.
Human Mutation, 2020, 41 (4), pp.850-859. ⟨10.1002/humu.23981⟩
Journal articles hal-02934592v1

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.
Annales de Biologie Clinique, 2021, 79 (1), pp.28-40. ⟨10.1684/abc.2021.1621⟩
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 of Clinical Medicine, 2020, 9 (5), pp.1365. ⟨10.3390/jcm9051365⟩
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 of Cardiac Failure, 2021, 27 (6), pp.677-681. ⟨10.1016/j.cardfail.2021.01.007⟩
Journal articles hal-04073195v1

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations: Authors’ reply

Pascale Richard , Flavie Ader
EP-Europace, 2018, 20 (8), pp.1389-1389. ⟨10.1093/europace/eux257⟩
Journal articles hal-04003544v1

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.
EP-Europace, 2017, 19 (4), pp.651-659. ⟨10.1093/europace/euw067⟩
Journal articles hal-01444277v1

Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis

Flavie Ader , Elodie Surget , Philippe Charron , Alban Redheuil , Amir Zouaghi , et al.
Circulation: Genomic and Precision Medicine, 2020, 13 (4), pp.e002744. ⟨10.1161/CIRCGEN.119.002744⟩
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
Médecine/Sciences, 2018, 34, pp.39-41. ⟨10.1051/medsci/201834s211⟩
Journal articles inserm-03996754v1

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.
European Journal of Heart Failure, 2019, 21 (2), pp.253-254. ⟨10.1002/ejhf.1384⟩
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.
Stem Cell Research, 2021, 58, pp.102616. ⟨10.1016/j.scr.2021.102616⟩
Journal articles hal-03475229v1

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.
Reproductive BioMedicine Online, 2017, 35 (4), pp.372-378. ⟨10.1016/j.rbmo.2017.06.017⟩
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.
JACC: Case Reports, 2020, 2 (8), pp.1205-1209. ⟨10.1016/j.jaccas.2020.05.072⟩
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.
Stem Cell Research, 2022, 60, pp.102680. ⟨10.1016/j.scr.2022.102680⟩
Journal articles hal-03549731v1

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.
Cells, 2023, 12 (2), pp.337. ⟨10.3390/cells12020337⟩
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
Endocrinologie et métabolisme. Sorbonne Université, 2021. Français. ⟨NNT : 2021SORUS371⟩
Theses tel-03583894v1

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.
Clinical Genetics, 2019, 96 (4), pp.317-329. ⟨10.1111/cge.13594⟩
Journal articles hal-02393778v1