P
Pauline Chaste
Researcher at University of Pittsburgh
Publications - 48
Citations - 6718
Pauline Chaste is an academic researcher from University of Pittsburgh. The author has contributed to research in topics: Autism & Asperger syndrome. The author has an hindex of 27, co-authored 47 publications receiving 5961 citations. Previous affiliations of Pauline Chaste include National Science Foundation & Centre national de la recherche scientifique.
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Journal ArticleDOI
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Christelle M. Durand,Catalina Betancur,Tobias M. Boeckers,Juergen Bockmann,Pauline Chaste,Fabien Fauchereau,Gudrun Nygren,Maria Råstam,I. Carina Gillberg,Henrik Anckarsäter,Eili Sponheim,Hany Goubran-Botros,Richard Delorme,Nadia Chabane,Marie-Christine Mouren-Simeoni,Philippe de Mas,Eric Bieth,Bernadette Rogé,Delphine Héron,Lydie Burglen,Christopher Gillberg,Marion Leboyer,Thomas Bourgeron +22 more
TL;DR: It is reported that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders.
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
Psychiatric and psychosocial problems in adults with normal-intelligence autism spectrum disorders.
Björn Hofvander,Richard Delorme,Pauline Chaste,Agneta Nydén,Elisabet Wentz,Elisabet Wentz,Ola Ståhlberg,Evelyn Herbrecht,Astrid Stopin,Henrik Anckarsäter,Henrik Anckarsäter,Henrik Anckarsäter,Christopher Gillberg,Maria Råstam,Marion Leboyer +14 more
TL;DR: The clinical psychiatric presentation and important outcome measures of a large group of normal-intelligence adult patients with ASDs, characterized by impaired social interaction and non-verbal communication in adulthood as well as in childhood, are described.
Journal ArticleDOI
Autism risk factors: genes, environment, and gene-environment interactions.
Pauline Chaste,Marion Leboyer +1 more
TL;DR: The aim of this review is to summarize the key findings from genetic and epidemiological research, which show that autism is a complex disorder resulting from the combination of genetic and environmental factors.
Journal ArticleDOI
Abnormal melatonin synthesis in autism spectrum disorders
Jonas Melke,H Goubran Botros,Pauline Chaste,Catalina Betancur,Gudrun Nygren,Henrik Anckarsäter,Henrik Anckarsäter,Maria Råstam,Ola Ståhlberg,I. C. Gillberg,Richard Delorme,Nadia Chabane,M-C Mouren-Simeoni,Fabien Fauchereau,Christelle M. Durand,F Chevalier,X Drouot,Corinne Collet,J.M. Launay,Marion Leboyer,Christopher Gillberg,Thomas Bourgeron +21 more
TL;DR: Results indicate that a low melatonin level, caused by a primary deficit in ASMT activity, is a risk factor for autism spectrum disorders and support ASMT as a susceptibility gene for ASD and highlight the crucial role of melatonin in human cognition and behavior.