T
Thomas Courtin
Researcher at University of Paris
Publications - 27
Citations - 201
Thomas Courtin is an academic researcher from University of Paris. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 4, co-authored 12 publications receiving 51 citations. Previous affiliations of Thomas Courtin include Pierre-and-Marie-Curie University.
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Journal ArticleDOI
Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders
David Zhang,David Zhang,Sebastian Guelfi,Sonia García-Ruiz,Sonia García-Ruiz,Beatrice Costa,Regina H. Reynolds,Karishma D’Sa,Wenfei Liu,Thomas Courtin,Amy Peterson,Andrew E. Jaffe,John Hardy,Juan A. Botía,Juan A. Botía,Leonardo Collado-Torres,Mina Ryten,Mina Ryten +17 more
TL;DR: The greatest abundance of unannotated transcription in brain and genes highly expressed in brain are more likely to be reannotated, which will facilitate more accurate genetic analysis, with the greatest impact on the understanding of Mendelian and complex neurogenetic disorders.
Journal ArticleDOI
Characterization of Recessive Parkinson Disease in a Large Multicenter Study
Suzanne Lesage,Ariane Lunati,Marion Houot,Sawssan Ben Romdhan,Fabienne Clot,Christelle Tesson,Graziella Mangone,Benjamin Le Toullec,Thomas Courtin,Kathy Larcher,Mustapha Benmahdjoub,Mohammed Arezki,Ahmed Bouhouche,Mathieu Anheim,Emmanuel Roze,François Viallet,François Tison,Emmanuel Broussolle,Murat Emre,Hasmet Hanagasi,Başar Bilgiç,Meriem Tazir,Mouna Ben Djebara,Riadh Gouider,Christine Tranchant,Marie Vidailhet,Eric Le Guern,Olga Corti,Chokri Mhiri,Ebba Lohmann,Ebba Lohmann,Andrew B. Singleton,Jean-Christophe Corvol,Alexis Brice +33 more
TL;DR: Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa‐induced motor complications, dysautonomia, and dementia than those without mutations.
Journal ArticleDOI
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.
Holly K. Harris,Holly K. Harris,Tojo Nakayama,Jenny Lai,Boxun Zhao,Nikoleta Argyrou,Cynthia S. Gubbels,Aubrie Soucy,Casie A. Genetti,Victoria Suslovitch,Lance H. Rodan,George E. Tiller,Gaetan Lesca,Karen W. Gripp,Reza Asadollahi,Ada Hamosh,Carolyn D. Applegate,Peter D. Turnpenny,Marleen Simon,Catharina (Nienke) M.L. Volker-Touw,Koen L.I. van Gassen,Ellen van Binsbergen,Rolph Pfundt,Thatjana Gardeitchik,Bert B.A. de Vries,La Donna L. Immken,Catherine Buchanan,Marcia C. Willing,Tomi L. Toler,Emily Fassi,Laura A. Baker,Fleur Vansenne,Xiadong Wang,Julian L. Ambrus,Madeleine Fannemel,Jennifer E. Posey,Emanuele Agolini,Antonio Novelli,Anita Rauch,Paranchai Boonsawat,Christina Fagerberg,Martin Jakob Larsen,Maria Kibaek,Audrey Labalme,Alice Poisson,Katelyn Payne,Laurence E. Walsh,Laurence E. Walsh,Kimberly A. Aldinger,Jorune Balciuniene,Cara M. Skraban,Christopher Gray,Jill R. Murrell,Caleb P. Bupp,Giulia Pascolini,Paola Grammatico,Martin Broly,Sébastien Küry,Mathilde Nizon,Iqra Ghulam Rasool,Iqra Ghulam Rasool,Muhammad Yasir Zahoor,Cornelia Kraus,André Reis,Muhammad Iqbal,Kévin Uguen,Severine Audebert-Bellanger,Claude Férec,Sylvia Redon,Janice Baker,Yunhong Wu,Guiseppe Zampino,Steffan Syrbe,Ines Brösse,Rami Abou Jamra,William B. Dobyns,Lilian L. Cohen,Anne Blomhoff,Cyril Mignot,Boris Keren,Thomas Courtin,Pankaj B. Agrawal,Alan H. Beggs,Timothy W. Yu +83 more
TL;DR: In this article, the authors describe a novel neurobehavioral phenotype of autism spectrum disorder (ASD), intellectual disability, and/or attention-deficit/hyperactivity disorder (ADHD) associated with de novo or inherited deleterious variants in members of the RFX family of genes.
Journal ArticleDOI
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Erin Torti,Boris Keren,Elizabeth E. Palmer,Zehua Zhu,Alexandra Afenjar,Ilse J. Anderson,Marisa V. Andrews,Celia Atkinson,Margaret G. Au,Susan A. Berry,Kevin M. Bowling,Jackie Boyle,Julien Buratti,Sara S. Cathey,Perrine Charles,Benjamin Cogné,Thomas Courtin,Luis F. Escobar,Sabra Ledare Finley,John M. Graham,Dorothy K. Grange,Delphine Héron,Stacy Hewson,Susan M. Hiatt,Kathleen A. Hibbs,Parul Jayakar,Louisa Kalsner,Lise Larcher,Gaetan Lesca,Gaetan Lesca,Paul R. Mark,Kathryn G. Miller,Caroline Nava,Mathilde Nizon,G. Shashidhar Pai,John Pappas,Gretchen Parsons,Katelyn Payne,Audrey Putoux,Audrey Putoux,Rachel Rabin,Isabelle Sabatier,Marwan Shinawi,Natasha Shur,Steven A. Skinner,Stéphanie Valence,Hannah Warren,Sandra Whalen,Amy Crunk,Ganka Douglas,Kristin G. Monaghan,Richard E. Person,Rebecca Willaert,Benjamin D. Solomon,Jane Juusola +54 more
TL;DR: A majority of patients did not observe previously reported findings of postnatal overgrowth or craniosynostosis, in comparison with earlier reports, and valuable data is provided regarding the prognosis and clinical manifestations of patients with variants in TCF20.
Journal ArticleDOI
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Paul C. Marcogliese,Samantha L. Deal,Jonathan C. Andrews,J. Michael Harnish,Venkata Hemanjani Bhavana,Hillary K. Graves,Sharayu Jangam,Xi Luo,Ning Li,Danqing Bei,Yu Hsin Chao,Brooke Hull,Pei-Tseng Lee,Hongling Pan,Pradnya Bhadane,Mei-Chu Huang,Colleen M Longley,Hsiao-Tuan Chao,Hyunglok Chung,Nele A Haelterman,Oguz Kanca,Sathiya N. Manivannan,Linda Z. Rossetti,Ryan J. German,Amanda Gerard,Eva Maria Christina Schwaibold,S. Fehr,Renzo Guerrini,Annalisa Vetro,Eleina M. England,Chaya N. Murali,Tahsin Stefan Barakat,Marieke F. van Dooren,Martina Wilke,Marjon van Slegtenhorst,Gaetan Lesca,Isabelle Sabatier,Nicolas Chatron,Catherine A. Brownstein,Jill A. Madden,Pankaj B. Agrawal,Boris Keren,Thomas Courtin,Laurence Perrin,Melanie Brugger,Timo Roser,S. Leiz,Frédéric Tran Mau-Them,Julian Delanne,Elena Sukarova-Angelovska,Slavica Trajkova,Erik Rosenhahn,Vincent Strehlow,Konrad Platzer,Roberto Keller,Lisa Pavinato,Alfredo Brusco,Jill A. Rosenfeld,Ronit Marom,Michael F. Wangler,Shinya Yamamoto +60 more
TL;DR: Coe et al. as mentioned in this paper used humanization and overexpression strategies to functionally assess ASD variants in vivo and identify GLRA2-related neurodevelopmental disorders in Drosophila mutants and transgenics.