J
Jean-Louis Mandel
Researcher at University of Strasbourg
Publications - 372
Citations - 39716
Jean-Louis Mandel is an academic researcher from University of Strasbourg. The author has contributed to research in topics: Gene & Fragile X syndrome. The author has an hindex of 101, co-authored 362 publications receiving 37522 citations. Previous affiliations of Jean-Louis Mandel include French Institute of Health and Medical Research & Collège de France.
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Journal ArticleDOI
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jérémie Courraud,Eric Chater-Diehl,Benjamin Durand,Marie Vincent,Maria del Mar Muniz Moreno,Imene Boujelbene,Nathalie Drouot,Loréline Genschik,Elise Schaefer,Mathilde Nizon,Bénédicte Gérard,Marc Abramowicz,Benjamin Cogné,Lucas Bronicki,Lydie Burglen,Magalie Barth,Perrine Charles,Estelle Colin,Christine Coubes,Albert David,Bruno Delobel,Florence Demurger,Sandrine Passemard,Anne Sophie Denommé,Laurence Faivre,Claire Feger,Mélanie Fradin,Christine Francannet,David Geneviève,Alice Goldenberg,Anne Marie Guerrot,Bertrand Isidor,Katrine M Johannesen,Boris Keren,Maria Kibaek,Paul Kuentz,Michèle Mathieu-Dramard,Bénédicte Demeer,Julia Metreau,Rikke S. Møller,Sébastien Moutton,Laurent Pasquier,Kristina Pilekær Sørensen,Laurence Perrin,Mathilde Renaud,Pascale Saugier,Marlène Rio,Joane Svane,Julien Thevenon,Frederic Tran Mau Them,Cathrine Elisabeth Tronhjem,Antonio Vitobello,Valérie Layet,Stéphane Auvin,Khaoula Khachnaoui,Marie Christine Birling,Séverine Drunat,Allan Bayat,Christèle Dubourg,Salima El Chehadeh,Christina Fagerberg,Cyril Mignot,Michel Guipponi,Thierry Bienvenu,Yann Herault,Julie D. Thompson,Marjolaine Willems,Jean-Louis Mandel,Rosanna Weksberg,Rosanna Weksberg,Amélie Piton +70 more
TL;DR: In this article, the authors reported clinical and molecular data for 50 individuals with Intellectual Disabilities harboring DYRK1A variants and developed tools to improve interpretation of missense variants, which remains a major challenge in human genetics.
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Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
Francesca Mattioli,Bertrand Isidor,Omar A. Abdul-Rahman,Andrew Gunter,Lijia Huang,Raman Kumar,Chandree Beaulieu,Jozef Gecz,Micheil Innes,Jean-Louis Mandel,Amélie Piton +10 more
TL;DR: Overall, the cohort of currently known individuals with BBIS is expanded by reporting two individuals carrying the same recurrent European haplotype composed of three amino acid changes, affecting THOC6 localization and interaction with THO protein partners.
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De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder.
Francesca Mattioli,Gaëlle Hayot,Nathalie Drouot,Bertrand Isidor,Jérémie Courraud,Maria-Victoria Hinckelmann,Frédéric Tran Mau-Them,Chantal Sellier,Alica M. Goldman,Aida Telegrafi,Alicia Boughton,Candace Gamble,Sébastien Moutton,Angélique Quartier,Nolwenn Jean,Paul C. Van Ness,Sarah Grotto,Sophie Nambot,Ganka Douglas,Yue Cindy Si,Jamel Chelly,Zohra Shad,Elisabeth Kaplan,Richard Dineen,Christelle Golzio,Nicolas Charlet-Berguerand,Jean-Louis Mandel,Amélie Piton +27 more
TL;DR: Six individuals with de novo frameshift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability, motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI are reported.
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Presence of a TaqI polymorphism in the human glutamate dehydrogenase (GLUD) gene on chromosome 10
Journal ArticleDOI
Sixth international workshop on the fragile X and X-linked mental retardation.
Grant R. Sutherland,W. Ted Brown,Randi J Hagerman,Ed Jenkins,Herbert A. Lubs,Jean-Louis Mandel,David L. Nelson,Giovanni Neri,Michael Partington,Robert I. Richards,Roger E. Stevenson,Gillian Turner +11 more