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authFullName_s : Richard Redon
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A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype

Zeina Al Sayed , Mariam Jouni , Jean‐baptiste Gourraud , Nadjet Belbachir , Julien Barc , et al.
Clinical and Translational Medicine, 2021, 11 (6), ⟨10.1002/ctm2.413⟩
Journal articles hal-03283845v1

The genetic history of France

Aude Saint-Pierre , Joanna Giemza , Isabel Alves , Matilde Karakachoff , Marinna Gaudin , et al.
European Journal of Human Genetics, 2020, 28 (7), pp.853-865. ⟨10.1038/s41431-020-0584-1⟩
Journal articles hal-02480238v1
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Sodium-channel blocker challenge in the familial screening of Brugada syndrome: safety and predictors of positivity

Dylan Therasse , Frédéric Sacher , Bertrand Petit , Dominique Babuty , Philippe Mabo , et al.
Heart Rhythm, 2017, 14 (10), pp.1442-1448. ⟨10.1016/j.hrthm.2017.06.031⟩
Journal articles hal-01650124v1

Value of the sodium-channel blocker challenge in Brugada syndrome

Dylan Therasse , Frederic Sacher , Dominique Babuty , Philippe Mabo , Jacques Mansourati , et al.
International Journal of Cardiology, 2017, 245, pp.178--180. ⟨10.1016/j.ijcard.2017.05.099⟩
Journal articles hal-01832133v1
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Infanticide vs. inherited cardiac arrhythmias

Malene Brohus , Todor Arsov , David Wallace , Helene Halkjær Jensen , Mette Nyegaard , et al.
Journal articles hal-03135708v1

Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia

Antoine Rimbert , Xavier Vanhoye , Dramane Coulibaly , Marie Marrec , Matthieu Pichelin , et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021, 41 (1), pp.e63-e71. ⟨10.1161/ATVBAHA.120.315491⟩
Journal articles hal-03105646v1
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Atelier MoDaL (Multi-Scale Data Links)

Aurélien Cornet , Christian Barillot , Olivier Dameron , Alban Gaignard , Camille Maumet , et al.
[Rapport de recherche] IRISA, Inria Rennes. 2020
Reports inserm-02507799v4
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Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death

Francois Huchet , Florence Kyndt , Julien Barc , Aurelie Thollet , Flavien Charpentier , et al.
Journal of the American College of Cardiology, 2017, Equipe I Equipe IIa, 69 (12), pp.1642--1643. ⟨10.1016/j.jacc.2017.01.030⟩
Journal articles hal-01832147v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability

Bertrand Isidor , Sébastien Küry , Jill A. Rosenfeld , Thomas Besnard , Sébastien Schmitt , et al.
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Journal articles hal-01259225v1
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Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project

Romain Bourcier , Stéphanie Chatel , Emmanuelle Bourcereau , Solène Jouan , Hervé Le Marec , et al.
Neurosurgery, 2017, 80 (4), pp.621-626. ⟨10.1093/neuros/nyw135⟩
Journal articles hal-01768333v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Amélie Cordovado , Martina Schaettin , Mederic Jeanne , Veranika Panasenkava , Anne‐sophie Denommé‐pichon , et al.
Human Molecular Genetics, 2022, 31 (19), pp.3325-3340. ⟨10.1093/hmg/ddac114⟩
Journal articles hal-03719616v1
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Location of intracranial aneurysms is the main factor associated with rupture in the ICAN population

Olivia Rousseau , Matilde Karakachoff , Alban Gaignard , Lise Bellanger , Philippe Bijlenga , et al.
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (2), jnnp-2020-324371. ⟨10.1136/jnnp-2020-324371⟩
Journal articles hal-03033899v1

Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests

Lise Bellanger , Elodie Persyn , Floriane Simonet , Richard Redon , Jean-Jacques Schott , et al.
International Biometric Conference, Jul 2014, Florence, Italy.
Conference papers hal-01037977v1

The impact of a fine-scale population stratification on rare variant association test results

Elodie Persyn , Richard Redon , Lise Bellanger , Christian Dina
PLoS ONE, 2018, 13 (12), pp.e0207677. ⟨10.1371/journal.pone.0207677⟩
Journal articles hal-01986061v1
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Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish

Gaelle Odelin , Adèle Faucherre , Damien Marchese , Amélie Pinard , Hager Jaouadi , et al.
Nature Communications, 2023, 14 (1), pp.1543. ⟨10.1038/s41467-023-37110-x⟩
Journal articles hal-04044322v1
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On distributed collaboration for biomedical analyses

Fatima-Zahra Boujdad , Alban Gaignard , Mario Südholt , Wilmer Garzón-Alfonso , Luis Daniel Benavides Navarro , et al.
CCGrid-Life 2019 Workshop on Clusters, Clouds and Grids for Life Sciences, May 2019, Larnaca, Cyprus. pp.1-10, ⟨10.1109/CCGRID.2019.00079⟩
Conference papers hal-02080463v1

0211 : Implications of baselines 2010 task force criterias on ventricular arrhythmias in ARVC

Nelly Amara , Jean-Baptiste Gourraud , Arnaud Denis , Philippe Mabo , Aurélie Thollet , et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.169, ⟨10.1016/S1878-6480(15)30103-8⟩
Conference papers hal-01150489v1
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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Anne Guimier , Christopher T. Gordon , François Godard , Gianina Ravenscroft , Myriam Oufadem , et al.
American Journal of Human Genetics, 2016, 99 (3), pp.666--673. ⟨10.1016/j.ajhg.2016.06.021⟩
Journal articles hal-01831600v1

0185 : Genetic screening identifies a high proportion of mutations in patients with idiopathic ventricular fibrillation and sudden cardiac death

Vincent Probst , Solena Le Scouarnec , Florence Kyndt , Jean-Jacques Schott , Jean-Baptiste Gourraud , et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.170, ⟨10.1016/S1878-6480(15)30107-5⟩
Conference papers hal-01150486v1
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

J. C. Bis , X. Jian , B. W. Kunkle , Y. Chen , K. L. Hamilton-Nelson , et al.
Molecular Psychiatry, 2018, 25 (8), pp.1859-1875. ⟨10.1038/s41380-018-0112-7⟩
Journal articles hal-03177410v1

0210 : Effect of SCN5A mutations and SCN10A, SCN5A and HEY2 frequent variants on ECG of Brugada patients during ajmaline test

Dylan Therasse , Floriane Simonet , Christian Dina , Aurélie Thollet , Philippe Mabo , et al.
Archives of Cardiovascular Diseases Supplements, Apr 2015, Toulouse, France. pp.170--171, ⟨10.1016/S1878-6480(15)30108-7⟩
Conference papers hal-01150488v1
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Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing

Emilie Lecomte , Benoit Tournaire , Benjamin Cogné , Jean-Baptiste Dupont , Pierre Lindenbaum , et al.
Molecular Therapy - Nucleic Acids, 2015, 4, pp.e260. ⟨10.1038/mtna.2015.32⟩
Journal articles inserm-01799968v1

Mental stress test: a rapid, simple, and efficient test to unmask long QT syndrome

Pauline Etienne , François Huchet , Nathalie Gaborit , Julien Barc , Aurélie Thollet , et al.
EP-Europace, 2018, Equipe I Equipe IIa, ⟨10.1093/europace/euy078⟩
Journal articles hal-01833912v1

Contribution to Alzheimer's disease risk of rare variants in TREM_2, SORL_1, and ABCA_7 in 1779 cases and 1273 controls

Céline Bellenguez , Camille Charbonnier , Benjamin Grenier-Boley , Olivier Quenez , Kilan Le Guennec , et al.
Neurobiology of Aging, 2017, 59, pp.220.e1-220.e9. ⟨10.1016/j.neurobiolaging.2017.07.001⟩
Journal articles hal-01760388v1
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A taxonomy of tools and approaches for distributed genomic analyses

Wilmer Garzón , Luis Daniel Benavides Navarro , Alban Gaignard , Richard Redon , Mario Südholt
Informatics in Medicine Unlocked, 2022, 32, pp.1-17. ⟨10.1016/j.imu.2022.101024⟩
Journal articles hal-03748752v1
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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder

Sébastien Küry , Thomas Besnard , Frédéric Ebstein , Tahir N. Khan , Tomasz Gambin , et al.
American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
Journal articles hal-01478814v1
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Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation

Akiko Seki , Taisuke Ishikawa , Xavier Daumy , Hiroyuki Mishima , Julien Barc , et al.
Journal of the American College of Cardiology, 2017, Equipe I, 70 (3), pp.358--370. ⟨10.1016/j.jacc.2017.05.039⟩
Journal articles hal-01832148v1

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the Aorta

Marta Sanchez-Castro , Hadja Eldjouzi , Eric Charpentier , Pierre-François Busson , Quentin Hauet , et al.
Circulation. Cardiovascular Genetics, 2016, Equipe 3 Equipe 4, 9 (1), pp.86--94. ⟨10.1161/CIRCGENETICS.115.001213⟩
Journal articles hal-01831746v1

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression

K. Le Guennec , O. Quenez , G. Nicolas , D. Wallon , S. Rousseau , et al.
Molecular Psychiatry, 2017, Equipe I, 22 (8), pp.1119--1125. ⟨10.1038/mp.2016.226⟩
Journal articles hal-01832142v1
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Genetic association analyses highlight biological pathways underlying mitral valve prolapse

Christian Dina , Nabila Bouatia-Naji , Nathan Tucker , Francesca N. Delling , Katelynn Toomer , et al.
Nature Genetics, 2015, 47 (10), pp.1206-1211. ⟨10.1038/ng.3383⟩
Journal articles hal-01191656v1