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Clément Prouteau

Angers University Hospital

10H-index
35Paper Count
299Citation Count
Published Papers 21
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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Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review
err2025-12-01
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errVanSickle, Elizabeth A.; Sarasua, Sara M.; Lowe, Tracy; Farrell, Christopher L.; Boccuto, Luigi; Schwartz, Charles; Pegg, Anthony E.; Peron, Angela; Faundes, Victor; Ganapathi, Mythily; Chung, Wendy K.; Ziegler, Alban; Hofstede, Floris; Prouteau, Clement; Steindl, Katharina; Olson, Colleen; Devinsky, Orrin; Mastracci, Teresa L.; Casero Jr, Robert A.; Stewart, Tracy Murray; Gilmour, Susan; Koerner, Teri; Kutler, Mary Jo; Rajasekaran, Surender; Michael, Julianne; Bachmann, Andre S.; Bupp, Caleb P.
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Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow
err2025-09-29
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errMylène Donge; Sandrine Marie; Amandine Pochet; Lionel Marcelis; Geraldine Luis; François Boemer; Clément Prouteau; Samir Mesli; Matthias Cuykx; Thao Nguyen-Khoa; David Guénet; Aurélie Empain; Magalie Barth; Benjamin Dauriat; Cécile Laroche-Raynaud; Corinne De Laet; Patrick Verloo; An I. Jonckheere; Manuel Schiff; Marie-Cécile Nassogne; Joseph P. Dewulf
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Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS-MS Workflow
err2025-08-20
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PREAI
errMylène Donge; Sandrine Marie; Amandine Pochet; Lionel Marcelis; Geraldine Luis; François Boemer; Clément Prouteau; Samir Mesli; Matthias Cuykx; Thao Nguyen-Khoa; David Guénet; Aurélie Empain; Magalie Barth; Benjamin Dauriat; Cécile Laroche-Raynaud; Corinne De Laet; Patrick Verloo; An I. Jonckheere; Manuel Schiff; Marie-Cécile Nassogne; Joseph P. Dewulf
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Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder
err2025-08-13
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errAmber S.E. van Oirsouw; Pavla Nedbalova; Miroslava Hancarova; Jan Prchal; Darina Prchalova; Marketa Vlckova; Sarka Bendova; Kristin G. Monaghan; Lisa M. Dyer; Yanmin Chen; Deanna Alexis Carere; Emma A.M. te Bogt; Heather Fisher; Angela E. Scheuerle; Stephanie Riley; Mahim Jain; Weiyi Mu; Joann N. Bodurtha; Albertien M. van Eerde; Marijn F. Stokman; Nicola Longo; Meena Balasubramanian; Michael Spiller; Gregory Costain; Charlotte von der Lippe; Kristian Tveten; Marianne Jortveit; Øystein L. Holla; Bertrand Isidor; Benjamin Cogné; Kevin E. Glinton; Blake Vuocolo; Roberta Ann Sierra; Brad Angle; Kelly Bontempo; Klaas Koop; Rachel Rabin; John Pappas; David A. Staffenberg; Pascal Joset; Peter Miny; Isabel Filges; Abdulrazak Alali; Kara Vitalone; Jill A. Rosenfeld; Weimin Bi; Samuel Bradbrook; Renee Perrier; Subhadra Ramanathan; June-Anne Gold; María Palomares Bralo; María Ángeles Gómez-Cano; Ann Haskins Olney; Shelly Nielsen; Alban Ziegler; Dominique Bonneau; Clément Prouteau; Ange-Line Bruel; Charlotte Caille-Benigni; Laëtitia Lambert; Andrea C. Yu; Nathaniel H. Robin; Dana Goodloe; Jan Fischer; Joseph Porrmann; Yvonne D. Hennig; Rami Abou Jamra; Isabella Herman; Ivy R. Johnson; Lucas Hérissant; Guillaume Jouret; Koen L.I. van Gassen; Ellen van Binsbergen; Bert van der Zwaag; Alwin Kamermans; Renske Oegema; Zdenek Sedlacek; Michaela Fenckova; Richard H. van Jaarsveld
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Reduced AKT activation accompanied with high TP53 expression is implicated in the impaired hematogenesis in Ziegler-Huang syndrome and the Znt7 null mice partially recapitulates the human disease linked to pancytopenia
err2025-06-01
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errHuang, Liping; Nguyen, Steven T.; Yang, Zhongyue; Kirschke, Catherine P.; Prouteau, Clement; Copin, Marie-Christine; Bonneau, Dominique; Blanchet, Odile; Mallebranche, Coralie; Pellier, Isabelle; Coutant, Regis; Miot, Charline; Ziegler, Alban
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ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
err2025-03-01
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errHoudayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
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De Novo Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase Activity
err2024-09-02
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PREAI
errTakatsu, Hiroyuki; Nishimura, Narumi; Kosugi, Yusuke; Ogawa, Haruo; Nakayama, Kazuhisa; Colin, Estelle; Platzer, Konrad; Abou Jamra, Rami; Redler, Silke; Prouteau, Clement; Ziegler, Alban; Shin, Hye-Won
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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
err2024-06-01
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errYang, Fang; Begemann, Anais; Reichhart, Nadine; Haeckel, Akvile; Steindl, Katharina; Schellenberger, Eyk; Sturm, Ronja Fini; Barth, Magalie; Bassani, Sissy; Boonsawat, Paranchai; Courtin, Thomas; Delobel, Bruno; Gunning, Boudewijn; Hardies, Katia; Jennesson, Melanie; Legoff, Louis; Linnankivi, Tarja; Prouteau, Clement; Smal, Noor; Spodenkiewicz, Marta; Toelle, Sandra P.; Van Gassen, Koen; Van Paesschen, Wim; Verbeek, Nienke; Ziegler, Alban; Zweier, Markus; Horn, Anselm H. C.; Sticht, Heinrich; Lerche, Holger; Weckhuysen, Sarah; Strauss, Olaf; Rauch, Anita
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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases
err2024-05-15
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errCavestro, Chiara; Morra, Francesca; Legati, Andrea; D'Amato, Marco; Nasca, Alessia; Iuso, Arcangela; Lubarr, Naomi; Morrison, Jennifer L.; Wheeler, Patricia G.; Serra-Juhe, Clara; Rodriguez-Santiago, Benjamin; Turon-Vinas, Eulalia; Prouteau, Clement; Barth, Magalie; Hayflick, Susan J.; Ghezzi, Daniele; Tiranti, Valeria; Di Meo, Ivano
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Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α
err2023-04-25
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PREAI
errZiegler, Alban; Ebstein, Frederic; Shamseldin, Hanan; Prouteau, Clement; Krueger, Elke; Binamer, Yousef M.; Bonneau, Dominique; Alkuraya, Fowzan S.; Martin, Ludovic
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Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure
err2023-02-23
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errHuang, Liping; Yang, Zhongyue; Kirschke, Catherine P.; Prouteau, Clement; Copin, Marie-Christine; Bonneau, Dominique; Pellier, Isabelle; Coutant, Regis; Miot, Charline; Ziegler, Alban
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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5
err2023-02-07
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errHapp, Hannah C.; Sadleir, Lynette G.; Zemel, Matthew; de Valles-Ibanez, Guillem; Hildebrand, Michael S.; McConkie-Rosell, Allyn; McDonald, Marie; May, Halie; Sands, Tristan; Aggarwal, Vimla; Elder, Christopher; Feyma, Timothy; Bayat, Allan; Moller, Rikke S.; Fenger, Christina D.; Klint Nielsen, Jens Erik; Datta, Anita N.; Gorman, Kathleen M.; King, Mary D.; Linhares, Natalia D.; Burton, Barbara K.; Paras, Andrea; Ellard, Sian; Rankin, Julia; Shukla, Anju; Majethia, Purvi; Olson, Rory J.; Muthusamy, Karthik; Schimmenti, Lisa A.; Starnes, Keith; Sedlackova, Lucie; Sterbova, Katalin; Vlckova, Marketa; Lassuthova, Petra; Jahodova, Alena; Porter, Brenda E.; Couque, Nathalie; Colin, Estelle; Prouteau, Clement; Collet, Corinne; Smol, Thomas; Caumes, Roseline; Vansenne, Fleur; Bisulli, Francesca; Licchetta, Laura; Person, Richard; Torti, Erin; McWalter, Kirsty; Webster, Richard; Gerard, Elizabeth E.; Lesca, Gaetan; Szepetowski, Pierre; Scheffer, Ingrid E.; Mefford, Heather C.; Carvill, Gemma L.
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The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
err2023-02-07
err12
PREAI
errAerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde
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Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome
err2023-02-01
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errFaqeih, Eissa A.; Alghamdi, Malak Ali; Almahroos, Marwa A.; Alharby, Essa; Almuntashri, Makki; Alshangiti, Amnah M.; Clement, Prouteau; Calame, Daniel G.; Qebibo, Leila; Burglen, Lydie; Doco-Fenzy, Martine; Mastrangelo, Mario; Torella, Annalaura; Manti, Filippo; Nigro, Vincenzo; Alban, Ziegler; Alharbi, Ghadeer Saleh; Hashmi, Jamil Amjad; Alraddadi, Rawya; Alamri, Razan; Mitani, Tadahiro; Magalie, Barth; Coban-Akdemir, Zeynep; Geckinli, Bilgen Bilge; Pehlivan, Davut; Romito, Antonio; Karageorgou, Vasiliki; Martini, Javier; Colin, Estelle; Bonneau, Dominique; Bertoli-Avella, Aida; Lupski, James R.; Pastore, Annalisa; Peake, Roy W. A.; Dallol, Ashraf; Alfadhel, Majid; Almontashiri, Naif A. M.
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Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
err2022-08-01
err15
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errZiegler, Alban; Steindl, Katharina; Hanner, Ashleigh S.; Kar, Rajesh Kumar; Prouteau, Clement; Boland, Anne; Deleuze, Jean Francois; Coubes, Christine; Bezieau, Stephane; Kury, Sebastien; Maystadt, Isabelle; Le Mao, Morgane; Lenaers, Guy; Navet, Benjamin; Faivre, Laurence; Mau-Them, Frederic Tran; Zanoni, Paolo; Chung, Wendy K.; Rauch, Anita; Bonneau, Dominique; Park, Myung Hee
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Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
err2022-04-07
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errRiquin, Elise; Barth, Magalie; Le Nerze, Thomas; Pasquini, Natwin; Prouteau, Clement; Colin, Estelle; Amati Bonneau, Patrizia; Procaccio, Vincent; Van Bogaert, Patrick; Duverger, Philippe; Bonneau, Dominique; Roy, Arnaud
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Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
err2021-11-15
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errDenomme-Pichon, Anne-Sophie; Vitobello, Antonio; Olaso, Robert; Ziegler, Alban; Jeanne, Mederic; Mau-Them, Frederic Tran; Couturier, Victor; Racine, Caroline; Isidor, Bertrand; Poe, Charlotte; Jouan, Thibaud; Boland, Anne; Fin, Bertrand; Bacq-Daian, Delphine; Besse, Celine; Garde, Aurore; Prost, Adeline; Garret, Philippine; Tisserant, Emilie; Delanne, Julian; Nambot, Sophie; Juven, Aurelien; Gorce, Magali; Nizon, Mathilde; Vincent, Marie; Moutton, Sebastien; Fradin, Melanie; Lavillaureix, Alinoe; Rollier, Paul; Capri, Yline; Van-Gils, Julien; Busa, Tiffany; Sigaudy, Sabine; Pasquier, Laurent; Barth, Magalie; Bruel, Ange-Line; Flamant, Cyril; Prouteau, Clement; Bonneau, Dominique; Toutain, Annick; Chantegret, Corinne; Callier, Patrick; Philippe, Christophe; Duffourd, Yannis; Deleuze, Jean-Francois; Sorlin, Arthur; Faivre, Laurence; Thauvin-Robinet, Christel
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ZNF668 deficiency causes a recognizable disorder of DNA damage repair
err2021-07-27
err1
PREAI
errAlsaif, Hessa S.; Al Ali, Hatoon; Faqeih, Eissa; Ramadan, Sahar M.; Barth, Magalie; Colin, Estelle; Prouteau, Clement; Bonneau, Dominique; Ziegler, Alban; Alkuraya, Fowzan S.
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Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
err2021-07-20
err2
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errRiquin, Elise; Le Nerze, Thomas; Pasquini, Natwin; Barth, Magalie; Prouteau, Clement; Colin, Estelle; Amati Bonneau, Patrizia; Procaccio, Vincent; Van Bogaert, Patrick; Duverger, Philippe; Bonneau, Dominique; Roy, Arnaud
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