A
Aurore Despres
Publications - 3
Citations - 487
Aurore Despres is an academic researcher. The author has contributed to research in topics: Sudden cardiac death & Brugada syndrome. The author has an hindex of 2, co-authored 2 publications receiving 409 citations.
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Journal ArticleDOI
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Connie R. Bezzina,Julien Barc,Yuka Mizusawa,Carol Ann Remme,Jean-Baptiste Gourraud,Floriane Simonet,Floriane Simonet,Floriane Simonet,Arie O. Verkerk,Peter J. Schwartz,Lia Crotti,Federica Dagradi,Pascale Guicheney,Pascale Guicheney,Véronique Fressart,Véronique Fressart,Antoine Leenhardt,Antoine Leenhardt,Charles Antzelevitch,Susan Bartkowiak,Martin Borggrefe,Rainer Schimpf,Eric Schulze-Bahr,Sven Zumhagen,Elijah R. Behr,Rachel Bastiaenen,Jacob Tfelt-Hansen,Jacob Tfelt-Hansen,Morten S. Olesen,Morten S. Olesen,Stefan Kääb,Britt M. Beckmann,Peter Weeke,Hiroshi Watanabe,Naoto Endo,Tohru Minamino,Minoru Horie,Seiko Ohno,Kanae Hasegawa,Naomasa Makita,Akihiko Nogami,Wataru Shimizu,Takeshi Aiba,Philippe Froguel,Philippe Froguel,Philippe Froguel,Beverley Balkau,Beverley Balkau,Olivier Lantieri,Margherita Torchio,Cornelia Wiese,David Weber,Rianne Wolswinkel,Ruben Coronel,Bas J. Boukens,Stéphane Bézieau,Eric Charpentier,Eric Charpentier,Eric Charpentier,Stéphanie Chatel,Aurore Despres,Françoise Gros,Françoise Gros,Françoise Gros,Florence Kyndt,Simon Lecointe,Pierre Lindenbaum,Vincent Portero,Vincent Portero,Vincent Portero,Jade Violleau,Manfred Gessler,Hanno L. Tan,Dan M. Roden,Vincent M. Christoffels,Hervé Le Marec,Arthur A.M. Wilde,Vincent Probst,Jean-Jacques Schott,Christian Dina,Richard Redon +80 more
TL;DR: The association signals at SCN5A-SCN10A demonstrate that genetic polymorphisms modulating cardiac conduction can also influence susceptibility to cardiac arrhythmia and indicate that common genetic variation can have a strong impact on the predisposition to rare diseases.
Journal ArticleDOI
Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death (Nature Genetics (2013) 45 (1044-1049))
Connie R. Bezzina,Julien Barc,Yuka Mizusawa,Carol Ann Remme,Jean-Baptiste Gourraud,Floriane Simonet,Arie O. Verkerk,Peter J. Schwartz,Lia Crotti,Federica Dagradi,Pascale Guicheney,Véronique Fressart,Antoine Leenhardt,Charles Antzelevitch,Susan Bartkowiak,Eric Schulze-Bahr,Sven Zumhagen,Elijah R. Behr,Rachel Bastiaenen,Jacob Tfelt-Hansen,Morten S. Olesen,Stefan Kääb,Britt M. Beckmann,Peter Weeke,Hiroshi Watanabe,Naoto Endo,Tohru Minamino,Minoru Horie,Seiko Ohno,Kanae Hasegawa,Naomasa Makita,Akihiko Nogami,Wataru Shimizu,Takeshi Aiba,Philippe Froguel,Beverley Balkau,Olivier Lantieri,Margherita Torchio,Cornelia Wiese,David Weber,Rianne Wolswinkel,Ruben Coronel,Bas J. Boukens,Stéphane Bézieau,Eric Charpentier,Stéphanie Chatel,Aurore Despres,Françoise Gros,Florence Kyndt,Simon Lecointe,Pierre Lindenbaum,Vincent Portero,Jade Violleau,Manfred Gessler,Hanno L. Tan,Dan M. Roden,Vincent M. Christoffels,Hervé Le Marec,Arthur A.M. Wilde,Vincent Probst,Jean-Jacques Schott,Christian Dina,Richard Redon +62 more
TL;DR: Tasha E Fingerlin, Elissa Murphy, Weiming Zhang, Anna L Peljto, Kevin K Brown, Mark P Steele, James E Loyd, Gregory P Cosgrove, David Lynch, Steve Groshong, Harold R Collard, Paul J Wolters, Williamson Z Bradford, Karl Kossen, Scott D Seiwert, Roland M du Bois, Christine Kim Garcia, Megan S Devine, Gunnar Gudmundsson.
Journal ArticleDOI
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Hugo Lemoine,Loann Raud,François Foulquier,John A. Sayer,B. U. Lambert,Eric Olinger,Siriane Lefevre,Bertrand Knebelmann,Peter C. Harris,Pascal Trouvé,Aurore Despres,Gabrielle Duneau,M. Matignon,Anais Poyet,Noémie Jourde-Chiche,Dominique Guerrot,Sandrine Lemoine,Guillaume Seret,Miguel Barroso-Gil,Coralie Bingham,Rodney D. Gilbert,Yannick Le Meur,Marie-Pierre Audrézet,Emilie Cornec-Le Gall +23 more
TL;DR: In this article , the authors performed whole-exome sequencing in a large multiplex genetically unresolved (GUR) family affected by ADPKD-like symptoms and identified a monoallelic frameshift variant (c.703_704delCA) in ALG5.