M
Marion Pilorge
Researcher at French Institute of Health and Medical Research
Publications - 6
Citations - 1047
Marion Pilorge is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Autism & Copy-number variation. The author has an hindex of 6, co-authored 6 publications receiving 906 citations. Previous affiliations of Marion Pilorge include Centre national de la recherche scientifique & University of Paris.
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Journal ArticleDOI
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto,Elsa Delaby,Elsa Delaby,Elsa Delaby,Daniele Merico,Mafalda Barbosa,Alison K. Merikangas,Lambertus Klei,Bhooma Thiruvahindrapuram,Xiao Xu,Robert Ziman,Zhuozhi Wang,Jacob A. S. Vorstman,Ann P. Thompson,Regina Regan,Regina Regan,Marion Pilorge,Marion Pilorge,Marion Pilorge,Giovanna Pellecchia,Alistair T. Pagnamenta,Bárbara Oliveira,Bárbara Oliveira,Christian R. Marshall,Tiago R. Magalhaes,Tiago R. Magalhaes,Jennifer K. Lowe,Jennifer L. Howe,Anthony J. Griswold,John R. Gilbert,Eftichia Duketis,Beth A. Dombroski,Maretha de Jonge,Michael L. Cuccaro,Emily L. Crawford,Catarina Correia,Catarina Correia,Judith Conroy,Inȇs C. Conceição,Inȇs C. Conceição,Andreas G. Chiocchetti,Jillian P. Casey,Jillian P. Casey,Guiqing Cai,Christelle Cabrol,Christelle Cabrol,Christelle Cabrol,Nadia Bolshakova,Elena Bacchelli,Richard Anney,Steven Gallinger,Michelle Cotterchio,Graham Casey,Lonnie Zwaigenbaum,Kerstin Wittemeyer,Kirsty Wing,Simon Wallace,Herman van Engeland,Ana Tryfon,Susanne Thomson,Latha Soorya,Bernadette Rogé,Wendy Roberts,Fritz Poustka,Susana Mouga,Nancy J. Minshew,L. Alison McInnes,Susan G. McGrew,Catherine Lord,Marion Leboyer,Ann Le Couteur,Alexander Kolevzon,Patricia Jiménez González,Suma Jacob,Suma Jacob,Richard Holt,Stephen J. Guter,Jonathan Green,Andrew Green,Andrew Green,Christopher Gillberg,Bridget A. Fernandez,Frederico Duque,Richard Delorme,Geraldine Dawson,Pauline Chaste,Cátia Café,Sean Brennan,Thomas Bourgeron,Patrick Bolton,Patrick Bolton,Sven Bölte,Raphael Bernier,Gillian Baird,Anthony J. Bailey,Evdokia Anagnostou,Joana Almeida,Ellen M. Wijsman,Veronica J. Vieland,Astrid M. Vicente,Astrid M. Vicente,Gerard D. Schellenberg,Margaret A. Pericak-Vance,Andrew D. Paterson,Jeremy R. Parr,Guiomar Oliveira,John I. Nurnberger,Anthony P. Monaco,Anthony P. Monaco,Elena Maestrini,Sabine M. Klauck,Hakon Hakonarson,Jonathan L. Haines,Daniel H. Geschwind,Christine M. Freitag,Susan E. Folstein,Sean Ennis,Sean Ennis,Hilary Coon,Agatino Battaglia,Peter Szatmari,James S. Sutcliffe,Joachim Hallmayer,Michael Gill,Edwin H. Cook,Joseph D. Buxbaum,Bernie Devlin,Louise Gallagher,Catalina Betancur,Catalina Betancur,Catalina Betancur,Stephen W. Scherer +131 more
TL;DR: For example, the authors analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability.
Journal ArticleDOI
Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism
Marion Pilorge,Marion Pilorge,Marion Pilorge,Coralie Fassier,Coralie Fassier,Coralie Fassier,H. Le Corronc,A. Potey,A. Potey,A. Potey,Jing Bai,Jing Bai,Jing Bai,S. De Gois,S. De Gois,S. De Gois,Elsa Delaby,Elsa Delaby,Elsa Delaby,Brigitte Assouline,Vincent Guinchat,Françoise Devillard,Richard Delorme,Gudrun Nygren,Maria Råstam,Jochen C. Meier,Satoru Otani,H. Cheval,H. Cheval,H. Cheval,Victoria M. James,Victoria M. James,Maya Topf,Terence Neil Dear,Christopher Gillberg,Marion Leboyer,Bruno Giros,Sophie Gautron,Sophie Gautron,Sophie Gautron,Jamilé Hazan,Jamilé Hazan,Jamilé Hazan,Robert J. Harvey,Pascal Legendre,Pascal Legendre,Pascal Legendre,Catalina Betancur,Catalina Betancur,Catalina Betancur +49 more
TL;DR: In this article, a rare microdeletion of the X-linked gene GLRA2, encoding the GlyR α2 subunit, in a boy with autism was identified.
Journal ArticleDOI
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region
L. Alison McInnes,Alisa Nakamine,Marion Pilorge,Marion Pilorge,Tracy Brandt,Patricia Jiménez González,Marietha Fallas,Elina R Manghi,Lisa Edelmann,Joseph T. Glessner,Hakon Hakonarson,Catalina Betancur,Catalina Betancur,Joseph D. Buxbaum +13 more
TL;DR: Sequencing of genes in the 15q24 interval in large ASD and intellectual disability samples may identify mutations of etiologic importance in the development of these disorders.
Journal ArticleDOI
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Anne-Claude Tabet,Marion Pilorge,Marion Pilorge,Marion Pilorge,Richard Delorme,Frédérique Amsellem,JM Pinard,Marion Leboyer,Marion Leboyer,Alain Verloes,Brigitte Benzacken,Catalina Betancur,Catalina Betancur,Catalina Betancur +13 more
TL;DR: The clinical and genetic implications of two different 16p chromosomal rearrangements in this family are discussed, and it is suggested that the 16p11.2 deletion in the father predisposed to the formation of the duplication in his twin children.
Journal ArticleDOI
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Anne-Claude Tabet,Alain Verloes,Marion Pilorge,Marion Pilorge,Marion Pilorge,Elsa Delaby,Elsa Delaby,Elsa Delaby,Richard Delorme,Gudrun Nygren,Françoise Devillard,Marion Gérard,Sandrine Passemard,Delphine Héron,Jean-Pierre Siffroi,Aurélia Jacquette,Andrée Delahaye,Andrée Delahaye,Laurence Perrin,Céline Dupont,Azzedine Aboura,Pierre Bitoun,Mary Coleman,Marion Leboyer,Christopher Gillberg,Brigitte Benzacken,Catalina Betancur,Catalina Betancur,Catalina Betancur +28 more
TL;DR: These findings underscore the utility of SNP arrays for investigating apparently balanced chromosomal abnormalities in subjects with ASD or related neurodevelopmental disorders in both clinical and research settings.