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Functional impact of global rare copy number variation in autism spectrum disorders

Author
PINTO, Dalila1 ; PAGNAMENTA, Alistair T2 ; ALMEIDA, Joana10 ; BACCHELLI, Elena11 ; BADER, Gary D5 ; BAILEY, Anthony J12 ; BAIRD, Gillian13 ; BATTAGLIA, Agatino14 ; BERNEY, Tom15 ; BOLSHAKOVA, Nadia4 ; BÖLTE, Sven16 ; BOLTON, Patrick F17 ; KLEI, Lambertus3 ; BOURGERON, Thomas18 ; BRENNAN, Sean4 ; BRIAN, Jessica19 ; BRYSON, Susan E20 ; CARSON, Andrew R1 ; CASALLO, Guillermo1 ; CASEY, Jillian6 ; CHUNG, Brian H. Y1 ; COCHRANE, Lynne4 ; CORSELLO, Christina21 ; ANNEY, Richard4 ; CRAWFORD, Emily L22 ; CROSSET, Andrew23 ; CYTRYNBAUM, Cheryl1 ; DAWSON, Geraldine24 25 ; DE JONGE, Maretha26 ; DELORME, Richard27 ; DRMIC, Irene9 ; DUKETIS, Eftichia16 ; DUQUE, Frederico10 ; ESTES, Annette; MERICO, Daniele5 ; FARRAR, Penny2 ; FERNANDEZ, Bridget A; FOLSTEIN, Susan E; FOMBONNE, Eric; FREITAG, Christine M6 ; GILBERT, John; GILLBERG, Christopher; GLESSNER, Joseph T; GOLDBERG, Jeremy; GREEN, Andrew6 ; REGAN, Regina6 ; GREEN, Jonathan; GUTER, Stephen J; HAKONARSON, Hakon; HERON, Elizabeth A4 ; HILL, Matthew4 ; HOLT, Richard2 ; HOWE, Jennifer L1 ; HUGHES, Gillian4 ; HUS, Vanessa21 ; IGLIOZZI, Roberta14 ; CONROY, Judith6 ; KIM, Cecilia; KLAUCK, Sabine M; KOLEVZON, Alexander; MAGALHAES, Tiago R7 8 ; CORREIA, Catarina7 8 ; ABRAHAMS, Brett S9
[1] The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital tor Sick Children, Toronto, Ontario M5G 1L7, Canada
[2] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom
[3] Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15213, United States
[4] Autism Genetics Group, Department of Psychiatry, School of Medicine, Trinity College, Dublin, Ireland
[5] Banting and Best Department of Medical Research, Terrence Donnelly Centre for Cellular and Biomolecular Research, University of Toronto, Toronto, Ontario M5S 3E1, Canada
[6] School of Medicine and Medical Science University College, Dublin, Ireland
[7] Instituto Nacional de Saude Dr Ricardo Jorge 1649-016 Lisbon and Institute Gulbenkian de Cîencia, 2780-156 Oeiras, Portugal
[8] BioFIG-Center for Biodiversity, Functional and Integrative Genomics, Campus da FCUL, C2.2.12, Campo Grande, 1749-016 Lisboa, Portugal
[9] Program in Neurogenetics, Department of Neurology and Centerfor Autism Research and Treatment, Semel Institute, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, United States
[10] Ohospital Pediátrico de Coimbra, 3000 - 076 Coimbra, Portugal
[11] Department of Biology, University of Bologna, 40126 Bologna, Italy
[12] Department of Psychiatry, University of Oxford, Warneford Hospital, Headington, Oxford OX3 7JX, United Kingdom
[13] Newcomen Centre, Guy's Hospital, London SE1 9RT, United Kingdom
[14] Stella Maris Institute for Child and Adolescent Neuropsychiatry, 56128 Calambrone (Pisa), Italy
[15] Child and Adolescent Mental Health, University of Newcastle, Sir James Spence Institute, Newcastle upon Tyne NE1 4LP, United Kingdom
[16] Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, J.W. Goethe University Frankfurt, 60528 Frankfurt, Germany
[17] Department of Child and Adolescent Psychiatry, Institute of Psychiatry, London SE5 8AF, United Kingdom
[18] Human Genetics and Cognitive Functions, Institut Pasteur; University Paris Diderot-Paris 7, CNRS URA 2182, Fondation FondaMental, 75015 Paris, France
[19] Autism Research Unit, The Hospital for Sick Children and Bloorview Kids Rehab, University of Toronto, Toronto, Ontario M5G 1X8, Canada
[20] Department of Pediatrics and Psychology, Dalhousie University, Halifax, Nova Scotia B3K 6R8, Canada
[21] Autism and Communicative Disorders Centre, University of Michigan, Ann Arbor, Michigan 48109-2054, United States
[22] Department of Molecular Physiology and Biophysics, Vanderbilt Kennedy Center, and Centers for Human Genetics Research and Molecular Neuroscience, Vanderbilt University, Nashville, Tennessee 37232, United States
[23] Department of Statistics, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213, United States
[24] Autism Speaks, New York 10016, United States
[25] Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina 27599-3366, United States
[26] Department of Child Psychiatry, University Medical Center, Utrecht 3508 GA, Netherlands
[27] INSERM U 955, Fondation FondaMental, France
Source

Nature (London). 2010, Vol 466, Num 7304, pp 368-372, 5 p ; ref : 30 ref

CODEN
NATUAS
ISSN
0028-0836
Scientific domain
Multidisciplinary
Publisher
Nature Publishing Group, London
Publication country
United Kingdom
Document type
Article
Language
English
Keyword (fr)
Autisme Gène Homme Nombre copie Polymorphisme Déterminisme génétique Génétique Trouble du développement
Keyword (en)
Autism Gene Human Copy number Polymorphism Genetic determinism Genetics Developmental disorder
Keyword (es)
Autismo Gen Hombre Número copia Polimorfismo Determinismo genético Genética Trastorno desarrollo
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18D Child clinical studies / 002B18D04 Developmental disorders / 002B18D04B Infantile autism

Francis
770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D04 Child clinical studies / 770-D04D Developmental disorders / 770-D04D02 Infantile autism

Discipline
Psychopathology. Psychiatry. Clinical psychology
Origin
Inist-CNRS
Database
FRANCIS ; PASCAL
INIST identifier
22984768

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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