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A consistent arrhythmogenic trait in Brugada syndrome cellular phenotype
Zeina Al Sayed
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Mariam Jouni
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Jean‐baptiste Gourraud
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Nadjet Belbachir
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Julien Barc
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et al.
Journal articles
hal-03283845v1
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The genetic history of France
Aude Saint-Pierre
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Joanna Giemza
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Isabel Alves
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Matilde Karakachoff
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Marinna Gaudin
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et al.
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
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Frédéric Sacher
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Bertrand Petit
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Dominique Babuty
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Philippe Mabo
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et al.
Journal articles
hal-01650124v1
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Value of the sodium-channel blocker challenge in Brugada syndrome
Dylan Therasse
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Frederic Sacher
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Dominique Babuty
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Philippe Mabo
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Jacques Mansourati
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et al.
Journal articles
hal-01832133v1
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Infanticide vs. inherited cardiac arrhythmias
Malene Brohus
,
Todor Arsov
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David Wallace
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Helene Halkjær Jensen
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Mette Nyegaard
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et al.
Journal articles
hal-03135708v1
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Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia
Antoine Rimbert
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Xavier Vanhoye
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Dramane Coulibaly
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Marie Marrec
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Matthieu Pichelin
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et al.
Journal articles
hal-03105646v1
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Atelier MoDaL (Multi-Scale Data Links)
Aurélien Cornet
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Christian Barillot
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Olivier Dameron
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Alban Gaignard
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Camille Maumet
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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
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Julien Barc
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Aurelie Thollet
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Flavien Charpentier
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et al.
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
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Sébastien Küry
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Jill A. Rosenfeld
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Thomas Besnard
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Sébastien Schmitt
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et al.
Journal articles
hal-01259225v1
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Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project
Romain Bourcier
,
Stéphanie Chatel
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Emmanuelle Bourcereau
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Solène Jouan
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Hervé Le Marec
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et al.
Journal articles
hal-01768333v1
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
Amélie Cordovado
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Martina Schaettin
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Mederic Jeanne
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Veranika Panasenkava
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Anne‐sophie Denommé‐pichon
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et al.
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
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Lise Bellanger
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Philippe Bijlenga
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et al.
Journal articles
hal-03033899v1
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Rare Variants in Human Genetic Diseases: Comparison of Association Statistical Tests
Lise Bellanger
,
Elodie Persyn
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Floriane Simonet
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Richard Redon
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Jean-Jacques Schott
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et al.
International Biometric Conference, Jul 2014, Florence, Italy. http://www.ibs-italy.info/welcome.html
Conference papers
hal-01037977v1
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The impact of a fine-scale population stratification on rare variant association test results
Elodie Persyn
,
Richard Redon
,
Lise Bellanger
,
Christian Dina
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
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Damien Marchese
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Amélie Pinard
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Hager Jaouadi
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et al.
Journal articles
hal-04044322v1
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On distributed collaboration for biomedical analyses
Fatima-Zahra Boujdad
,
Alban Gaignard
,
Mario Südholt
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Wilmer Garzón-Alfonso
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Luis Daniel Benavides Navarro
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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
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0211 : Implications of baselines 2010 task force criterias on ventricular arrhythmias in ARVC
Nelly Amara
,
Jean-Baptiste Gourraud
,
Arnaud Denis
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Philippe Mabo
,
Aurélie Thollet
,
et al.
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
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Gianina Ravenscroft
,
Myriam Oufadem
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et al.
Journal articles
hal-01831600v1
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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
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Jean-Jacques Schott
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Jean-Baptiste Gourraud
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et al.
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
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X. Jian
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B. W. Kunkle
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Y. Chen
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K. L. Hamilton-Nelson
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et al.
Journal articles
hal-03177410v1
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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.
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.
Journal articles
inserm-01799968v1
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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.
Journal articles
hal-01833912v1
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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
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et al.
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
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.
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 articles
hal-01832148v1
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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
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et al.
Journal articles
hal-01831746v1
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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.
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.
Journal articles
hal-01191656v1
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