F. Ader

发表

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

C. Perret, A. Hagège, X. Jeunemaître, 2019, Clinical genetics.

Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study

G. Jondeau, E. Donal, L. Faivre, 2022, Frontiers in Cardiovascular Medicine.

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

M. Desnos, C. Bonithon-Kopp, J. Thevenon, 2018, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.

M. Waldenberger, H. Hakonarson, K. Strauch, 2021, European heart journal.

Postartesunate delayed hemolysis is a predictable event related to the lifesaving effect of artemisinins.

K. Haldar, E. Kendjo, Marie Nguyen, 2014, Blood.

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

P. Elliott, J. Mogensen, M. Pavlou, 2021, JAMA cardiology.

Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study

S. Tezenas du Montcel, A. Toutain, C. Rooryck, 2020, Journal of Clinical Medicine.

Inherited Cardiomyopathies Revealed by Clinically Suspected Myocarditis: Highlights from Genetic Testing.

É. Marijon, P. Charron, I. Denjoy, 2020, Circulation. Genomic and precision medicine.

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity

D. Tregouet, G. Jondeau, E. Donal, 2019, Archives of Cardiovascular Diseases Supplements.

A novel gain‐of‐function mutation in SCN5A responsible for multifocal ectopic Purkinje‐related premature contractions

N. Neyroud, F. Hidden‐Lucet, F. Ader, 2020, Human mutation.

External validation of risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers

P. Charron, F. Hidden‐Lucet, P. Richard, 2019, European journal of heart failure.

Drosophila CRISPR/Cas9 mutants as tools to analyse cardiac filamin function and pathogenicity of human FLNC variants

P. Richard, F. Ader, E. Villard, 2022, Biology open.

Generation of a heterozygous SCN5A knockout human induced pluripotent stem cell line by CRISPR/Cas9 edition.

P. Charron, N. Neyroud, F. Ader, 2022, Stem cell research.

Phenotype/Genotype Relationship in Left Ventricular Noncompaction: Ion Channel Gene Mutations Are Associated With Preserved Left Ventricular Systolic Function and Biventricular Noncompaction: Phenotype/Genotype of Noncompaction.

G. Jondeau, E. Donal, L. Faivre, 2021, Journal of cardiac failure.

Generation of CRISPR-Cas9 edited human induced pluripotent stem cell line carrying FLNC exon skipping variant

P. Richard, F. Ader, E. Villard, 2021 .

Routine application of Raman spectroscopy in the quality control of hospital compounded ganciclovir.

Fabrice Vidal, Philippe Bourget, F. Ader, 2014, International journal of pharmaceutics.

Delayed-Onset Hemolytic Anemia in Patients with Travel-Associated Severe Malaria Treated with Artesunate, France, 2011–2013

E. Kendjo, E. Caumes, C. Rapp, 2015, Emerging infectious diseases.

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

P. Elliott, P. Matthews, D. O’Regan, 2020, Nature Genetics.

Possible Implication of RNF135 in High Type 1 Neurofibromatosis Tumoral Risk

S. Chantot-Bastaraud, F. Ader, B. Keren, 2018 .

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

A. Reymond, A. Pagnamenta, S. Knight, 2020, bioRxiv.

A 14q distal chromoanagenesis elucidated by whole genome sequencing.

A. Afenjar, J. Siffroi, M. Portnoï, 2020, European journal of medical genetics.

Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies

F. Chapon, B. Buendia, C. Rooryck, 2023, Cells.

Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity

D. Trégouët, G. Jondeau, E. Donal, 2018, Clinical genetics.

Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers.

J. Siffroi, F. Ader, Pauline Marzin, 2017, Reproductive biomedicine online.

Contribution and limits of a non-intrusive Raman spectroscopic method compared with HPLC for routine application to pre-delivery analytical control of two major camptothecin analogs: irinotecan and topotecan

C. Neuzillet, F. Ader, A. Baillet-Guffroy, 2015 .

Morphological and genetic causes of fetal cardiomyopathies

C. Rooryck, P. Richard, T. Attié-Bitach, 2023, Clinical genetics.

MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset

A. Wilde, R. L. Lekanne Deprez, S. Mercier, 2023, Netherlands Heart Journal.

FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations

F. Ader, P. Groote, P. Réant, 2020, Archives of Cardiovascular Diseases Supplements.