G
Guillaume Huguet
Researcher at Pasteur Institute
Publications - 66
Citations - 2877
Guillaume Huguet is an academic researcher from Pasteur Institute. The author has contributed to research in topics: Autism & Medicine. The author has an hindex of 19, co-authored 32 publications receiving 2338 citations. Previous affiliations of Guillaume Huguet include Institut de Physique du Globe de Paris & Centre national de la recherche scientifique.
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Journal ArticleDOI
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond,Caroline Nava,Anne Polge,Julie Gauthier,Guillaume Huguet,Serge Lumbroso,Fabienne Giuliano,Coline Stordeur,Christel Depienne,Kevin Mouzat,Dalila Pinto,Jennifer L. Howe,Nathalie Lemière,Christelle M. Durand,Jessica Guibert,Elodie Ey,Roberto Toro,Hugo Peyre,Alexandre Mathieu,Frédérique Amsellem,Maria Råstam,I. Carina Gillberg,Gudrun A. Rappold,Richard Holt,Anthony P. Monaco,Elena Maestrini,Pilar Galan,Delphine Héron,Aurélia Jacquette,Alexandra Afenjar,Agnès Rastetter,Alexis Brice,Françoise Devillard,Brigitte Assouline,Fanny Laffargue,James Lespinasse,Jean Chiesa,François Rivier,Dominique Bonneau,Béatrice Regnault,Diana Zelenika,Marc Delepine,Mark Lathrop,Damien Sanlaville,Caroline Schluth-Bolard,Patrick Edery,Laurence Perrin,Anne Claude Tabet,Michael J. Schmeisser,Tobias M. Boeckers,Mary Coleman,Daisuke Sato,Peter Szatmari,Stephen W. Scherer,Guy A. Rouleau,Catalina Betancur,Marion Leboyer,Christopher Gillberg,Richard Delorme,Thomas Bourgeron +59 more
TL;DR: Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
Journal ArticleDOI
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond,Jutta Heinrich,Richard Delorme,Christian Proepper,Catalina Betancur,Guillaume Huguet,Marina Konyukh,Pauline Chaste,Elodie Ey,Maria Råstam,Henrik Anckarsäter,Gudrun Nygren,I. Carina Gillberg,Jonas Melke,Roberto Toro,Béatrice Regnault,Fabien Fauchereau,Oriane Mercati,Nathalie Lemière,David Skuse,Martin Poot,Richard Holt,Anthony P. Monaco,Irma Järvelä,Katri Kantojärvi,Raija Vanhala,Sarah Curran,David A. Collier,Patrick Bolton,Andreas G. Chiocchetti,Sabine M. Klauck,Fritz Poustka,Christine M. Freitag,Regina Waltes,Marnie Kopp,Eftichia Duketis,Elena Bacchelli,Fiorella Minopoli,Liliana Ruta,Agatino Battaglia,Luigi Mazzone,Elena Maestrini,Ana Filipa Sequeira,Bárbara Oliveira,Astrid M. Vicente,Guiomar Oliveira,Dalila Pinto,Stephen W. Scherer,Diana Zelenika,Marc Delepine,Mark Lathrop,Dominique Bonneau,Vincent Guinchat,Françoise Devillard,Brigitte Assouline,Marie-Christine Mouren,Marion Leboyer,Christopher Gillberg,Tobias M. Boeckers,Thomas Bourgeron +59 more
TL;DR: The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.
Journal ArticleDOI
The Genetic Landscapes of Autism Spectrum Disorders
TL;DR: Despite a heterogeneous genetic landscape, the genes implicated thus far seem to converge in common pathways affecting neuronal and synaptic homeostasis, and animal models developed to study these genes should lead to a better understanding of the diversity of the genetic landscapes of ASD.
Journal ArticleDOI
SHANK1 Deletions in Males with Autism Spectrum Disorder
Daisuke Sato,Anath C. Lionel,Anath C. Lionel,Claire S. Leblond,Claire S. Leblond,Claire S. Leblond,Aparna Prasad,Dalila Pinto,Susan Walker,Irene O'Connor,Carolyn Russell,Irene Drmic,Fadi F. Hamdan,Jacques L. Michaud,Volker Endris,Ralph Roeth,Richard Delorme,Guillaume Huguet,Guillaume Huguet,Guillaume Huguet,Marion Leboyer,Maria Råstam,Christopher Gillberg,Christopher Gillberg,Mark Lathrop,Dimitri J. Stavropoulos,Evdokia Anagnostou,Rosanna Weksberg,Eric Fombonne,Lonnie Zwaigenbaum,Bridget A. Fernandez,Wendy Roberts,Gudrun A. Rappold,Christian R. Marshall,Christian R. Marshall,Thomas Bourgeron,Thomas Bourgeron,Thomas Bourgeron,Peter Szatmari,Stephen W. Scherer,Stephen W. Scherer +40 more
TL;DR: A hemizygous SHANK1 deletion is identified that segregates in a four-generation family in which male carriers--but not female carriers--have ASD with higher functioning, and the discovery of apparent reduced penetrance of ASD in females bearing inherited autosomal SHank1 deletions provides a possible contributory model for the male gender bias in autism.
Journal ArticleDOI
The emerging role of SHANK genes in neuropsychiatric disorders
Audrey Guilmatre,Audrey Guilmatre,Guillaume Huguet,Guillaume Huguet,Richard Delorme,Thomas Bourgeron,Thomas Bourgeron +6 more
TL;DR: Based on neuropathological findings in animal models and patients, a possible role of SHANK in Alzheimer's disease is discussed and information is provided to further investigate the role of the SHANK genes in neuropsychiatric disorders.