F. Kyndt

R. Redon, F. Charpentier, V. Probst, 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.

Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.

F. Sacher, M. Haïssaguerre, V. Probst, 2013, 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.

New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene

F. Sacher, C. Rooryck, D. Bozon, 2015, Journal of cardiovascular electrophysiology.

Clinical characteristics of a familial inherited myxomatous valvular dystrophy mapped to Xq28.

J. Trochu, B. Bénichou, J. Gueffet, 2000, Journal of the American College of Cardiology.

SCN5A-related cardiac channelopathy

C. Dina, A. Wilde, F. Charpentier, 2012 .

Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death.

R. Redon, F. Charpentier, V. Probst, 2017, Journal of the American College of Cardiology.

Multifocal Ectopic Purkinje Premature Contractions : a new SCN 5 A-related cardiac channelopathy

C. Dina, A. Wilde, F. Charpentier, 2012 .

Novel SCN5A Mutation Leading Either to Isolated Cardiac Conduction Defect or Brugada Syndrome in a Large French Family

D. Escande, S. Demolombe, J. Chevallier, 2001, Circulation.

Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene.

V. Probst, F. Kyndt, D. Bonnet, 2016, Journal of the American College of Cardiology.

Cosegregation of the Marfan syndrome and the long QT syndrome in the same family leads to a severe cardiac phenotype.

J. Trochu, V. Probst, F. Kyndt, 2003, The American journal of cardiology.

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

R. Redon, K. Strauch, P. Lambiase, 2022, Nature Genetics.

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

Dan M Roden, Beverley Balkau, Pierre Lindenbaum, 2013, Nature Genetics.

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

R. Redon, P. Lambiase, P. Ellinor, 2020, Genetics in medicine : official journal of the American College of Medical Genetics.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

J. Towbin, J. Brugada, R. Brugada, 2010, Heart rhythm.

Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity.

R. Redon, F. Sacher, V. Probst, 2017, Heart rhythm.

Clinical Yield of Familial Screening After Sudden Death in Young Subjects: The French Experience

R. Redon, F. Sacher, V. Probst, 2017, Circulation. Arrhythmia and electrophysiology.

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

H. Tan, F. Sacher, V. Probst, 2009, Heart rhythm.

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

A. Wilde, H. Tan, F. Sacher, 2009, Circulation: Cardiovascular Genetics.

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

R. Redon, C. Dina, R. Teusan, 2015, Human molecular genetics.

Mutations in the Gene Encoding Filamin A as a Cause for Familial Cardiac Valvular Dystrophy

J. Trochu, I. Young, R. Newbury-Ecob, 2006, Circulation.

Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28.

J. Trochu, B. Bénichou, F. Kyndt, 1998, American journal of human genetics.

Haploinsufficiency in combination with aging causes SCN5A-linked hereditary Lenègre disease.

D. Escande, S. Demolombe, J. Trochu, 2003, Journal of the American College of Cardiology.

Robustness and relevance of predictive score in sudden cardiac death for patients with Brugada syndrome.

F. Sacher, P. Gourraud, V. Probst, 2020, European heart journal.

Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

D. Escande, S. Demolombe, F. Kyndt, 1999, American journal of human genetics.

Multifocal Ectopic Purkinje-Related Premature Contractions A New SCN5A -Related Cardiac Channelopathy

C. Dina, A. Wilde, F. Charpentier, 2012 .

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

A. Leenhardt, V. Probst, P. Ray, 2012, Human molecular genetics.

Dynamic analysis of the QT interval in long QT1 syndrome patients with a normal phenotype.

D. Escande, F. Kyndt, I. Baró, 2001, European heart journal.

SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families

R. Redon, E. Behr, T. Meitinger, 2020, Circulation. Genomic and precision medicine.

Age at Diagnosis of Brugada Syndrome: Influence on Clinical Characteristics and Risk of Arrhythmia.

F. Sacher, V. Probst, N. Clementy, 2019, Heart rhythm.

Number of electrocardiogram leads in the diagnosis of spontaneous Brugada syndrome.

F. Sacher, V. Probst, D. Babuty, 2019, Archives of cardiovascular diseases.

Clinical presentation and follow-up of women affected by Brugada syndrome.

F. Sacher, V. Probst, D. Babuty, 2019, Heart rhythm.

SCN5A mutations in 442 neonates and children: genotype–phenotype correlation and identification of higher-risk subgroups

J. Skinner, E. Behr, P. Schwartz, 2018, European heart journal.

Value of the sodium-channel blocker challenge in Brugada syndrome.

R. Redon, F. Sacher, V. Probst, 2017, International journal of cardiology.

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations

R. Redon, D. Pavin, V. Probst, 2014, Basic Research in Cardiology.

V. Probst, F. Kyndt, J. Schott, 2011, Journal of cardiovascular translational research.

Response to intravenous ajmaline: a retrospective analysis of 677 ajmaline challenges.

M. Borggrefe, F. Sacher, V. Probst, 2009, 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.

Functional Epicardial Conduction Disturbances Due to a SCN5A Variant Associated With Brugada Syndrome

Jesse L. Ashton, F. Sacher, M. Hocini, 2023, JACC. Clinical electrophysiology.

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene

N. Winer, A. Paumier, D. Krakow, 2009, Prenatal diagnosis.

Screening for copy number variation in genes associated with the long QT syndrome: clinical relevance.

Frédéric Sacher, Richard Redon, R. Redon, 2011, Journal of the American College of Cardiology.

[Genetic aspects of valvulopathies].

J. Gueffet, V. Probst, A. Chaventré, 2007, Archives des maladies du coeur et des vaisseaux.

A need for exhaustive and standardized characterization of ion channels activity. The case of KV11.1

F. Kyndt, J. Schott, G. Loussouarn, 2023, Frontiers in Physiology.

A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity

V. Probst, J. Barc, F. Kyndt, 2021, Clinical and translational medicine.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Andrew D. Johnson, Thomas W. Mühleisen, M. Nalls, 2014, Nature Genetics.

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

F. Charpentier, Y. Coudière, L. Faivre, 2012, Journal of the American College of Cardiology.

Multifocal Ectopic Purkinje-related Premature Contractions a New Scn5a-related Cardiac Channelopathy

F. Charpentier, Y. Coudière, C. Thauvin-Robinet, 2022 .

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

H. Tan, F. Sacher, V. Probst, 2009, Heart rhythm.

The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/β-catenin transcription pathway.

C. Duplàa, F. Kyndt, J. Schott, 2017, Biochimica et biophysica acta. Molecular cell research.

Cardiac Phenotype and Long-Term Follow-Up of Patients With Mutations in NKX2-5 Gene.

V. Probst, F. Kyndt, D. Bonnet, 2016, Journal of the American College of Cardiology.

Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease.

F. Kyndt, J. Schott, S. Le Scouarnec, 2023, Heart.

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

S. Mundlos, A. Boland, S. Ohno, 2024, Nature communications.

Type 3 long QT syndrome: is the effectiveness of treatment with beta-blockers population-specific?

P. Maison-Blanche, A. Leenhardt, V. Probst, 2023, Heart rhythm.