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Sylvie Odent

University of Rennes, CNRS and INSERM

69H-index
425Paper Count
1.4WCitation Count
Published Papers 157
Publication Date
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
err2026-03-30
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errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
err2026-03-25
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PREAI
errQuentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève
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PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
err2025-10-23
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errLevel, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frederic; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlene; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Veronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Lea; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stephane; Pasquier, Laurent; Huet, Frederic; Faivre, Laurence
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Genetic analyses using chromosomal microarray and exome sequencing in fetuses and women with Müllerian duct anomalies
err2025-10-21
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PREAI
errAuriane Cospain; Paul Rollier; Anna Lokchine; Erika Launay; Ludivine Dion; Alinoé Lavillaureix; Godelieve Morel; Laura Mary; Laurent Pasquier; Chloé Quelin; Fabrice G. Petit; Soazik P. Jamin; Mélanie Fradin; Bénédicte Nouyou; Wilfrid Carré; Régis Bouvet; Lenaick Detivaud Gauthier; Daniel Guerrier; Marie Faoucher; Christèle Dubourg; Sylvie Odent; Marc-Antoine Belaud Rotureau; Vincent Lavoue; Sylvie Jaillard
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First report of kidney failure in PEX6-related peroxisomal disorder
err2025-10-01
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errBuia, Guillaume; Zanlonghi, Xavier; Audrezet, Marie-Pierre; Zagorec, Nikola; Ars, Elisabet; Dhaenens, Claire-Marie; Odent, Sylvie; Cornec-Le Gall, Emilie
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Type and position of repeat interruptions as determinants of disease severity and expansion size in Friedreich ataxia
err2025-09-23
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PREAI
errMehdi Benkirane; Cecilia Marelli; Ariane Choumert; Cyril Goizet; Olivier Patat; Claire Ewenczyk; Mathieu Anheim; André Mégarbané; Lise Larrieu; Cyril Charlin; Fabienne Ory Magne; Annabelle Chaussenot; Mélanie Fradin; Claire Guissart; Morgane Pointaux; Mireille Cossée; Marie-Claire Vincent; Anne Bergougnoux; Clément Hersent; Corinne Bareil; Agathe Roubertie; Frédérique Fluchère; Mathilde Renaud; Laurent Kremer; Christine Tranchant; Shahram Attarian; Sylvie Odent; Vincent Laugel; Ulrike Walther-Louvier; Beatrice Desnous; Eric Bieth; Isabelle Husson; Jean Phillipe Azulay; François Rivier; Bérénice Doray; Alexandra Durr; Safa Aouinti; Nicolas Molinari; Michel Koenig
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SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene
err2025-09-01
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PREAI
errLokchine, Anna; Zhang, Fang; Cluzeau, Laurence; Le Page, Lorrie; Belaud-Rotureau, Marc-Antoine; Planes, Marc; Mary, Laura; Esvant, Annabelle; Launay, Erika; Fergus-Mackie, Jaidah; Nouyou, Benedicte; Metayer-Amelot, Laure; Akloul, Linda; Marijon, Pierre; Carre, Wilfrid; Cuny, Ariane; Dybal, Elisa; Duros, Solene; Domin-Bernhard, Mathilde; Christin-Maitre, Sophie; Odent, Sylvie; Vialard, Francois; Tucker, Elena J.; Jasin, Maria; Jaillard, Sylvie
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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
err2025-09-01
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PREAI
errvan der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Marielle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M.; DuPont, Barbara R.; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A.; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G.; Polstra, Abeltje M.; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A.; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M.; van der Kevie-kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.
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The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
err2025-08-08
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errJean-Madeleine de Sainte Agathe; Pauline Monin; Florence Riccardi; Caroline Nava; Lionel Arnaud; Cyril Mignot; Dorothée Ville; Stéphane Auvin; Sandrine Tardieu; Kathy Larcher; Isabelle Gourfinkel-An; Mathilde Canon; Vincent Navarro; Bénédicte Héron; Sophie Julia; Diane Doummar; Marie-Line Jacquemont; Hélène Maurey; Blandine Dozières-Puyravel; Laurence Perrin; Laurent Pasquier; Christèle Dubourg; Sylvie Odent; Abdelhakim Bouazzaoui; Wilfrid Carre; Mélanie Fradin; Florence Demurger; Nicolas Chatron; Damien Sanlaville; Miriam Essid; Vincent des Portes; Eleni Panagiotakaki; Anne-Lise Poulat; Clotilde Rivier; Catherine Sarret; Ganaëlle Remerand; Cecilia Altuzarra; Radka Stoeva; Sylvie Nguyen; Juliette Piard; Élise Boucher; Vincent Flurin; Anne-Marie Guerrot; Sylvie Joriot; Béatrice Desnous; Nathalie Villeneuve; Anne Lépine; Caroline Hachon-Le Camus; Laurent Villard; Marie Faoucher; Mathieu Milh; Gaëtan Lesca; Éric Leguern
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The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS
err2025-07-22
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errCharlène Daval; Nicolas Meunier-Beillard; Eléonore Viora-Dupont; Julian Delanne; Aurore Garde; Caroline Racine; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Christophe Philippe; Ange-Line Bruel; Hana Safraou; Sylvie Odent; Chloé Quélin; Marine Legendre; Sophie Naudion; Médéric Jeanne; Marie-Line Jacquemont; Agnès Guichet; Camille Saldana; Anne-Marie Guerrot; Alice Goldenberg; Caroline Guégan; Marie Vincent; Audrey Putoux; Christine Francannet; Constance Wells; Chloé Arthuis; Elodie Alexandre; Thierry Rousseau; Olivia Martz; Emilie Simon; Ornella Magnien; Fanny Bobert; Sophie Bert; Frédéric Coatleven; Fanny Reveyaz; Perrine Moulinié; Christine Binquet; Christel Thauvin-Robinet; Laurence Faivre
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Novel VAC14 Variants Identified in a Patient with Striatonigral Degeneration and Prolonged Survival
err2025-05-30
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errOAAI
errSilvestre Cuinat MD; Christèle Dubourg MD, PhD; Gaël Nicolas MD, PhD; Jean-Madeleine de Sainte Agathe MD; Sylvie Odent MD, PhD; Laurent Pasquier MD, PhD; Audrey Riou MD
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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
err2025-04-01
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errThauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, Nicolas
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Optimizing care for MRKH patients: From malformation screening to uterus transplantation eligibility
err2024-10-09
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errCospain, Auriane; Dion, Ludivine; Bidet, Maud; Timoh, Krystel Nyangoh; Quelin, Chloe; Carton, Isis; Lavillaureix, Alinoe; Morcel, Karine; Rollier, Paul; Pasquier, Laurent; Nouyou, Benedicte; Odent, Sylvie; Guerrier, Daniel; Launay, Erika; Belaud Rotureau, Marc-Antoine; Fradin, Melanie; Jaillard, Sylvie; Lavoue, Vincent
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Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
err2024-08-01
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errRotig, Agnes; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Lena; Laborde, Nolwenn; Abi-Warde, Marie-Therese; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Veronique; Bonnemains, Chrystele; Broue, Pierre; De Saint-Martin, Anne; Philippe, Durand; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Helene; Mention, Karine; Odent, Sylvie S.; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel
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ARTICLE DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations
err2024-07-01
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PREAI
errLavillaureix, Alinoe; Rollier, Paul; Kim, Artem; Panasenkava, Veranika; De Tayrac, Marie; Carre, Wilfrid; Guyodo, Helene; Faoucher, Marie; Poirel, Elisabeth; Akloul, Linda; Quelin, Chloe; Whalen, Sandra; Bos, Jessica; Broekema, Marjoleine; van Hagen, Johanna M.; Grand, Katheryn; Allen-Sharpley, Michelle; Magness, Emily; McLean, Scott D.; Kayserili, Hulya; Altunoglu, Umut; Chong, Angie En Qi; Xue, Shifeng; Jeanne, Mederic; Almontashiri, Naif; Habhab, Wisam; Vanlerberghe, Clemence; Faivre, Laurence; Viora-Dupont, Eleonore; Philippe, Christophe; Safraou, Hana; Laffargue, Fanny; Jamra, Rami Abou; Mittendorf, Luise; Patil, Siddaramappa Jagdish; Dalal, Ashwin; Sarma, Asodu Sandeep; Keren, Boris; Reversade, Bruno; Dubourg, Christele; Odent, Sylvie; Dupe, Valerie
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A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France
err2024-04-27
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PREAI
errBoudet-Berquier, Julie; Demattei, Christophe; Guldner, Laurence; Gallay, Anne; Manouvrier, Sylvie; Botton, Jeremie; Philippat, Claire; Delva, Fleur; Bloch, Juliette; Semaille, Caroline; Odent, Sylvie; Perthus, Isabelle; Randrianaivo, Hanitra; Babajko, Sylvie; Barjat, Tiphaine; Beneteau, Claire; Brennetot, Naima; Garne, Ester; Haddad, Georges; Hocine, Mounia; Lacroix, Isabelle; Leuraud, Klervi; Mench, Michel; Morris, Joan; Patrier, Sophie; Sartelet, Arnaud; Verloes, Alain; Bonaldi, Christophe; Le Barbier, Melina; Gagniere, Bertrand; Pepin, Philippe; Ollivier, Ronan; Bitoun, Monique; King, Lisa; Guajardo-Villar, Andrea; Gomes, Eugenia; Desenclos, Jean-Claude; Regnault, Nolwenn; Benachi, Alexandra
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Episodic memory and speed of processing: Influence of plasma phenylalanine concentration in adults with early-treated phenylketonuria
err2024-04-01
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PREAI
errBrachet, Maxime; Charriere, Sybil; Maillot, Francois; Feillet, Francois; Fouilhoux, Alain; Astudillo, Leonardo; Lavigne, Christian; Arnoux, Jean Baptiste; Odent, Sylvie; Gay, Claire; Schiff, Manuel; Mazodier, Karin; Kuster, Alice; Rigalleau, Vincent; Seguin, Vanessa Leguy; Douillard, Claire
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Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
err2024-04-01
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PREAI
errHannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesus; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Debora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christele; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Millan, Maria Ines Perez; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen
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Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome
err2024-03-08
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errArnaud, Pauline; Mougin, Zakaria; Baujat, Genevieve; Drouin-Garraud, Valerie; El Chehadeh, Salima; Gouya, Laurent; Odent, Sylvie; Jondeau, Guillaume; Boileau, Catherine; Hanna, Nadine; Le Goff, Carine
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Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization
err2024-01-01
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errMariano, Vittoria; Kanellopoulos, Alexandros K.; Ricci, Carlotta; Di Marino, Daniele; Borrie, Sarah C.; Dupraz, Sebastian; Bradke, Frank; Achsel, Tilmann; Legius, Eric; Odent, Sylvie; Billuart, Pierre; Bienvenu, Thierry; Bagni, Claudia
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