Annick Toutain

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 23

Top Venues

Molecular psychiatry

European journal of human genetics : EJHG

PloS one

Genetics in medicine : official journal of the American College of Medical Genetics

Faculté de Médecine de Tours, Université François Rabelais

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Faculté de Médecine de Tours, Université François Rabelais

France

Professeur de Génétique médicale

Centre Hospitalier Régional Universitaire de Tours

France

Médecin spécialiste en Génétique Médicale :: Service de Génétique

Publications

Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry 29 (4) (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry 29 (4) (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry 29 (4) (2024)
Dévina C Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses. Molecular psychiatry 29 (4) (2024)
Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent
Executive functioning in adolescents and adults with Silver-Russell syndrome. PloS one 18 (1) (2023)
Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent
Executive functioning in adolescents and adults with Silver-Russell syndrome. PloS one 18 (1) (2023)
Kevin Riquin, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Estelle Colin, Dominique Bonneau, Laurent Pasquier, Sylvie Odent, Xavier Maximin Le Guillou Horn, Gwenaël Le Guyader, Annick Toutain, Vincent Meyer, Jean-François Deleuze, Olivier Pichon, Martine Doco-Fenzy, Stéphane Bézieau, Benjamin Cogné
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders. Journal of medical genetics (2023)
Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent
Executive functioning in adolescents and adults with Silver-Russell syndrome. PloS one 18 (1) (2023)
Amélie Cordovado, Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne Sophie Denommé-Pichon, Boris Keren, Cyril Mignot, Martine Doco-Fenzy, Lance Rodan, Keri Ramsey, Vinodh Narayanan, Julie R Jones, Eloise J Prijoles, Wendy G Mitchell, Jillian R Ozmore, Kali Juliette, Erin Torti, Elizabeth A Normand, Leslie Granger, Andrea K Petersen, Margaret G Au, Juliann P Matheny, Chanika Phornphutkul, Mary-Kathryn Chambers, Joaquín-Alejandro Fernández-Ramos, Eduardo López-Laso, Michael C Kruer, Somayeh Bakhtiari, Marcella Zollino, Manuela Morleo, Giuseppe Marangi, Davide Mei, Tiziana Pisano, Renzo Guerrini, Raymond J Louie, Anna Childers, David B Everman, Betrand Isidor, Séverine Audebert-Bellanger, Sylvie Odent, Dominique Bonneau, Brigitte Gilbert-Dussardier, Richard Redon, Stéphane Bézieau, Frédéric Laumonnier, Esther T Stoeckli, Annick Toutain, Marie-Laure Vuillaume
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. Human molecular genetics 31 (19) (2022)
Anne Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, Alban Ziegler, Médéric Jeanne, Frédéric Tran Mau-Them, Victor Couturier, Caroline Racine, Bertrand Isidor, Charlotte Poë, Thibaud Jouan, Anne Boland-Auge, Bertrand Fin, Delphine Bacq-Daian, Céline Besse, Aurore Garde, Adeline Prost, Philippine Garret, Émilie Tisserant, Julian Delanne, Sophie Nambot, Aurélien Juven, Magali Gorce, Mathilde Nizon, Marie Vincent, Sebastien Moutton, Mélanie Fradin, Alinoë Lavillaureix, Paul Rollier, Yline Capri, Julien Van-Gils, Tiffany Busa, Sabine Sigaudy, Laurent Pasquier, Magalie Barth, Ange-Line Bruel, Cyril Flamant, Clément Prouteau, Dominique Bonneau, Annick Toutain, Corinne Chantegret, Patrick Callier, Christophe Philippe, Yannis Duffourd, Jean-François Deleuze, Arthur Sorlin, Laurence Faivre, Christel Thauvin-Robinet
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. European journal of human genetics : EJHG (2021)
Flavien Rouxel, Kevin Yauy, Guilaine Boursier, Vincent Gatinois, Mouna Barat-Houari, Elodie Sanchez, Didier Lacombe, Stéphanie Arpin, Fabienne Giuliano, Damien Haye, Marlène Rio, Annick Toutain, Klaus Dieterich, Elise Brischoux-Boucher, Sophie Julia, Mathilde Nizon, Alexandra Afenjar, Boris Keren, Aurelia Jacquette, Sebastien Moutton, Marie-Line Jacquemont, Claire M Duflos, Yline Capri, Jeanne Amiel, Patricia Blanchet, Stanislas Lyonnet, Damien Sanlaville, David Genevieve
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt. European journal of human genetics : EJHG (2021)
Cédric Le Caignec, Olivier Pichon, Annaig Briand, Benoît de Courtivron, Christian Bonnard, Pierre Lindenbaum, Richard Redon, Caroline Schluth-Bolard, Flavie Diguet, Pierre-Antoine Rollat-Farnier, Marta Sanchez-Castro, Marie-Laure Vuillaume, Damien Sanlaville, Denis Duboule, André Mégarbané, Annick Toutain
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster. European journal of human genetics : EJHG 28 (3) (2019)
Audric Cologne, Clara Benoit-Pilven, Alicia Besson, Audrey Putoux, Amandine Campan-Fournier, Michael B Bober, Christine E M De Die-Smulders, Aimée D C Paulussen, Lucile Pinson, Annick Toutain, Chaim M Roifman, Anne-Louise Leutenegger, Sylvie Mazoyer, Patrick Edery, Vincent Lacroix
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients. RNA (New York, N.Y.) 25 (9) (2019)
Henri Margot, Guilaine Boursier, Claire Duflos, Elodie Sanchez, Jeanne Amiel, Jean-Christophe Andrau, Stéphanie Arpin, Elise Brischoux-Boucher, Odile Boute, Lydie Burglen, Charlotte Caille, Yline Capri, Patrick Collignon, Solène Conrad, Valérie Cormier-Daire, Geoffroy Delplancq, Klaus Dieterich, Hélène Dollfus, Mélanie Fradin, Laurence Faivre, Helder Fernandes, Christine Francannet, Vincent Gatinois, Marion Gerard, Alice Goldenberg, Jamal Ghoumid, Sarah Grotto, Anne-Marie Guerrot, Agnès Guichet, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Philippe Khau Van Kien, Marine Legendre, K H Le Quan Sang, Bruno Leheup, Stanislas Lyonnet, Virginie Magry, Sylvie Manouvrier, Dominique Martin, Godelieve Morel, Arnold Munnich, Sophie Naudion, Sylvie Odent, Laurence Perrin, Florence Petit, Nicole Philip, Marlène Rio, Julie Robbe, Massimiliano Rossi, Elisabeth Sarrazin, Annick Toutain, Julien Van Gils, Gabriella Vera, Alain Verloes, Sacha Weber, Sandra Whalen, Damien Sanlaville, Didier Lacombe, Nathalie Aladjidi, David Geneviève
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Fréderic Brioude, Annick Toutain, Eloise Giabicani, Edouard Cottereau, Valérie Cormier-Daire, Irene Netchine
Overgrowth syndromes - clinical and molecular aspects and tumour risk. Nature reviews. Endocrinology 15 (5) (2019)
Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, Keng Wee Teik, Seiji Mizuno, Hiroshi Suzumura, Bertrand Isidor, Winnie Peitee Ong, Muzhirah Haniffa, Susan M White, Mari Matsuo, Kayoko Saito, Shubha Phadke, Tomoki Kosho, Patrick Yap, Manisha Goyal, Lorne A Clarke, Rani Sachdev, George McGillivray, Richard J Leventer, Chirag Patel, Takanori Yamagata, Hitoshi Osaka, Yoshiya Hisaeda, Hirofumi Ohashi, Kenji Shimizu, Keisuke Nagasaki, Junpei Hamada, Sumito Dateki, Takashi Sato, Yasutsugu Chinen, Tomonari Awaya, Takeo Kato, Kougoro Iwanaga, Masahiko Kawai, Takashi Matsuoka, Yoshikazu Shimoji, Tiong Yang Tan, Seema Kapoor, Nerine Gregersen, Massimiliano Rossi, Mathieu Marie-Laure, Lesley McGregor, Kimihiko Oishi, Lakshmi Mehta, Greta Gillies, Paul J Lockhart, Kate Pope, Anju Shukla, Katta Mohan Girisha, Ghada M H Abdel-Salam, David Mowat, David Coman, Ok Hwa Kim, Marie-Pierre Cordier, Kate Gibson, Jeff Milunsky, Jan Liebelt, Helen Cox, Salima El Chehadeh, Annick Toutain, Ken Saida, Hiromi Aoi, Gaku Minase, Naomi Tsuchida, Kazuhiro Iwama, Yuri Uchiyama, Toshifumi Suzuki, Kohei Hamanaka, Yoshiteru Azuma, Atsushi Fujita, Eri Imagawa, Eriko Koshimizu, Atsushi Takata, Satomi Mitsuhashi, Satoko Miyatake, Takeshi Mizuguchi, Noriko Miyake, Naomichi Matsumoto
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. Journal of human genetics 64 (12) (2019)
Marie-Laure Vuillaume, Marie-Pierre Moizard, Alessandra Baumer, Edouard Cottereau, Fréderic Brioude, Anita Rauch, Annick Toutain
CUGC for Simpson-Golabi-Behmel syndrome (SGBS). European journal of human genetics : EJHG 27 (4) (2019)
Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. European journal of human genetics : EJHG 27 (4) (2019)
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E Hickey, Molka Kammoun, Karen W Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C Koboldt, Kees E P van Roozendaal, Hao Hu, Stefan A Haas, Hans-Hilger Ropers, Lucinda Murray, Eric A Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M Kalscheuer
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular psychiatry 24 (11) (2018)
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djuric, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Lughetti, Didier Lacombe, Massimo Maggi, Baris Malbora, Isabella Mammi, Sebastien Moutton, Rikke Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, Maria Luisa Poch-Olive, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B Dobyns, Alex R Paciorkowski
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genetics in medicine : official journal of the American College of Medical Genetics 19 (6) (2016)
Marie Vincent, David Genevieve, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-Coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline Vilain, Anne Dieux-Coeslier, Sylvie Manouvrier, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Valérie Layet, Sophie Naudion, Sylvie Odent, Laurent Pasquier, Sybille Pelras, Nicole Philip, Geneviève Pierquin, Fabienne Prieur, Nisrine Aboussair, Tania Attie-Bitach, Geneviève Baujat, Patricia Blanchet, Catherine Blanchet, Hélène Dollfus, Bérénice Doray, Elise Schaefer, Patrick Edery, Fabienne Giuliano, Alice Goldenberg, Cyril Goizet, Agnès Guichet, Christian Herlin, Laetitia Lambert, Bruno Leheup, Jelena Martinovic, Sandra Mercier, Cyril Mignot, Marie-Laure Moutard, Marie-José Perez, Lucile Pinson, Jacques Puechberty, Marjolaine Willems, Hanitra Randrianaivo, Kateline Szakszon, Kateline Szaskon, Annick Toutain, Alain Verloes, Jacqueline Vigneron, Elodie Sanchez, Pierre Sarda, Jean-Louis Laplanche, Corinne Collet
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genetics in medicine : official journal of the American College of Medical Genetics 18 (1) (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Annick Toutain