Stephanie CHATEL

Publications

Article dans une revue (16)

Identification of rare missense variants reducing cathepsin O secretion in families with intracranial aneurysm Milène Fréneau,Raphaël Blanchet,Maxence Bodet,Sandro Benichi,Mary-Adel Mradet al. Cardiovascular Research, 2026, 2026, pp.cvaf279 Article dans une revue hal-05477295v1
How local reference panels improve imputation in French populations Anthony Herzig,Lourdes Velo‐suárez,Dominique Campion,Jean-François Dartigues,Jean-Charles Lambertet al. Scientific Reports, 2024, 14 (1), pp.370. ⟨10.1038/s41598-023-49931-3⟩ Article dans une revue hal-04501605v1
Human genetic structure in Northwest France provides new insights into West European historical demography Isabel Alves,Joanna Giemza,Michael Blum,Carolina Bernhardsson,Stéphanie Chatelet al. Nature Communications, 2024, 15 (1), pp.6710. ⟨10.1038/s41467-024-51087-1⟩ Article dans une revue hal-04683810v2
Genetic population structure across Brittany and the downstream Loire basin provides new insights on the demographic history of Western Europe Isabel Alves,Joanna Giemza,Michael Blum,Carolina Bernhardsson,Stéphanie Chatelet al. BioRxiv, 2022, ⟨10.1101/2022.02.03.478491⟩ Article dans une revue hal-04045175v1
Prediction of Unruptured Intracranial Aneurysm Evolution: The UCAN Project Vincent L'Allinec,Stéphanie Chatel,Matilde Karakachoff,Emmanuelle Bourcereau,Zeineb Es-Salah-Lamoureuxet al. Neurosurgery, 2020, ⟨10.1093/neuros/nyaa093⟩ Article dans une revue hal-02889889v1
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm Romain Bourcier,Solena Le Scouarnec,Stéphanie Bonnaud,Matilde Karakachoff,Emmanuelle Bourcereauet al. American Journal of Human Genetics, 2018, 102 (1), pp.133 - 141. ⟨10.1016/j.ajhg.2017.12.006⟩ Article dans une revue hal-01808225v1
Understanding the Pathophysiology of Intracranial Aneurysm: The ICAN Project Romain Bourcier,Stéphanie Chatel,Emmanuelle Bourcereau,Solène Jouan,Hervé Le Marecet al. Neurosurgery, 2017, 80 (4), pp.621-626. ⟨10.1093/neuros/nyw135⟩ Article dans une revue hal-01768333v1
Dysfunction of the Voltage-Gated K+ Channel beta 2 Subunit in a Familial Case of Brugada Syndrome Vincent Portero,Solena Le Scouarnec,Zeineb Es-Salah-Lamoureux,Sophie Burel,Jean-Baptiste Gourraudet al. Journal of the American Heart Association, 2016, 5 (6), pp.e003122. ⟨10.1161/JAHA.115.003122⟩ Article dans une revue hal-01414464v1
Variants of Transient Receptor Potential Melastatin Member 4 in Childhood Atrioventricular Block Ninda Syam,Stéphanie Chatel,Lijo Cherian Ozhathil,Valentin Sottas,Jean-Sébastien Rougieret al. Journal of the American Heart Association, 2016, Equipe 3, 5 (5), ⟨10.1161/JAHA.114.001625⟩ Article dans une revue hal-01831595v1
Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes Nobue Yagihara,Hiroshi Watanabe,Phil Barnett,Laetitia Duboscq-Bidot,Atack C. Thomaset al. Journal of the American Heart Association, 2016, 5 (9), ⟨10.1161/JAHA.116.003644⟩ Article dans une revue hal-01831755v1
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome Solena Le Scouarnec,Matilde Karakachoff,Jean-Baptiste Gourraud,Pierre Lindenbaum,Stéphanie Bonnaudet al. Human Molecular Genetics, 2015, 24 (10), pp.2757--2763. ⟨10.1093/hmg/ddv036⟩ Article dans une revue hal-01201946v1
Increased Tpeak-Tend interval is highly and independently related to arrhythmic events in Brugada syndrome Philippe Maury,Frédéric Sacher,Jean-Baptiste Gourraud,Jean Luc Pasquié,Franck Raczkaet al. Heart Rhythm, 2015, 12 (12), pp.2469 - 2476. ⟨10.1016/j.hrthm.2015.07.029⟩ Article dans une revue hal-01773236v1
Molecular Genetics and Functional Anomalies in a Series of 248 Brugada Cases with 11 Mutations in the TRPM4 Channel Hui Liu,Stéphanie Chatel,Christophe Simard,Ninda Syam,Laurent Salleet al. PLoS ONE, 2013, 8 (1), pp.e54131. ⟨10.1371/journal.pone.0054131⟩ Article dans une revue hal-05165511v1
Identification of Large Families in Early Repolarization Syndrome. Jean-Baptiste Gourraud,Solena Le Scouarnec,Frederic Sacher,Stéphanie Chatel,Nicolas Dervalet al. Journal of the American College of Cardiology, 2013, 61 (2), pp.164-72. ⟨10.1016/j.jacc.2012.09.040⟩ Article dans une revue hal-00879642v1
Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach Jean-Baptiste Gourraud,Florence Kyndt,Swanny Fouchard,Eric Rendu,Philippe Jaafaret al. Heart, 2012, 98 (17), pp.1305 - 1310. ⟨10.1136/heartjnl-2012-301872⟩ Article dans une revue istex inserm-01667205v1
Parental electrocardiographic screening identifies a high degree of inheritance for congenital and childhood nonimmune isolated atrioventricular block. Alban-Elouen Baruteau,Albin Behaghel,Swanny Fouchard,Philippe Mabo,Jean-Jacques Schottet al. Circulation, 2012, 126 (12), pp.1469-77. ⟨10.1161/CIRCULATIONAHA.111.069161⟩ Article dans une revue hal-00880957v1

Poster de conférence (1)

Fine-scale Genetic Structure in Western France F Simonet,Matilde Karakachoff,J Giemza,E Persyn,J Violleauet al. EMGM European Mathematical Genetics Meeting, Apr 2015, Brest, France Poster de conférence hal-04118646v1

Pré-publication, Document de travail (1)

Rare coding variants in CTSO , a potential new actor of arterial remodeling, are associated to familial intracranial aneurysm Milène Fréneau,Raphaël Blanchet,Sandro Benichi,Mary-Adel Mrad,Surya Prakash Rao Battaet al. 2023 Pré-publication, Document de travail hal-03999154v1