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Functional impact o...
Functional impact of global rare copy number variation in autism spectrum disorders.
- Article/chapterEnglish2010
Publisher, publication year, extent ...
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2010-06-09
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Springer Science and Business Media LLC,2010
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/139247
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https://gup.ub.gu.se/publication/139247URI
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https://doi.org/10.1038/nature09146DOI
Supplementary language notes
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Pagnamenta, Alistair T
(author)
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Klei, Lambertus
(author)
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Anney, Richard
(author)
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Merico, Daniele
(author)
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Regan, Regina
(author)
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Conroy, Judith
(author)
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Magalhaes, Tiago R
(author)
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Correia, Catarina
(author)
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Abrahams, Brett S
(author)
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Almeida, Joana
(author)
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Bacchelli, Elena
(author)
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Bader, Gary D
(author)
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Bailey, Anthony J
(author)
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Baird, Gillian
(author)
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Battaglia, Agatino
(author)
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Berney, Tom
(author)
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Bolshakova, Nadia
(author)
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Boelte, Sven
(author)
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Bolton, Patrick F.
(author)
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Bourgeron, Thomas
(author)
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Brennan, Sean
(author)
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Brian, Jessica
(author)
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Bryson, Susan E
(author)
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Carson, Andrew R
(author)
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Casallo, Guillermo
(author)
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Casey, Jillian
(author)
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Chung, Brian H Y
(author)
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Cochrane, Lynne
(author)
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Corsello, Christina
(author)
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Crawford, Emily L
(author)
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Crossett, Andrew
(author)
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Cytrynbaum, Cheryl
(author)
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Dawson, Geraldine
(author)
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de Jonge, Maretha
(author)
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Delorme, Richard
(author)
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Drmic, Irene
(author)
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Duketis, Eftichia
(author)
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Duque, Frederico
(author)
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Estes, Annette
(author)
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Farrar, Penny
(author)
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Fernandez, Bridget A
(author)
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Folstein, Susan E
(author)
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Fombonne, Eric
(author)
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Freitag, Christine M
(author)
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Gilbert, John
(author)
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Gillberg, Christopher,1950Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xgilch
(author)
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Glessner, Joseph T
(author)
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Goldberg, Jeremy
(author)
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Green, Andrew
(author)
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Green, Jonathan
(author)
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Guter, Stephen J
(author)
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Hakonarson, Hakon
(author)
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Heron, Elizabeth A
(author)
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Hill, Matthew
(author)
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Holt, Richard
(author)
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Howe, Jennifer L
(author)
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Hughes, Gillian
(author)
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Hus, Vanessa
(author)
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Igliozzi, Roberta
(author)
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Kim, Cecilia
(author)
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Klauck, Sabine M
(author)
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Kolevzon, Alexander
(author)
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Korvatska, Olena
(author)
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Kustanovich, Vlad
(author)
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Lajonchere, Clara M
(author)
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Lamb, Janine A
(author)
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Laskawiec, Magdalena
(author)
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Leboyer, Marion
(author)
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Le Couteur, Ann
(author)
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Leventhal, Bennett L
(author)
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Lionel, Anath C
(author)
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Liu, Xiao-Qing
(author)
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Lord, Catherine
(author)
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Lotspeich, Linda
(author)
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Lund, Sabata C
(author)
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Maestrini, Elena
(author)
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Mahoney, William
(author)
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Mantoulan, Carine
(author)
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Marshall, Christian R
(author)
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McConachie, Helen
(author)
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McDougle, Christopher J
(author)
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McGrath, Jane
(author)
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McMahon, William M
(author)
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Merikangas, Alison
(author)
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Migita, Ohsuke
(author)
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Minshew, Nancy J
(author)
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Mirza, Ghazala K
(author)
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Munson, Jeff
(author)
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Nelson, Stanley F
(author)
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Noakes, Carolyn
(author)
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Noor, Abdul
(author)
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Nygren, Gudrun,1957Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xnygrg
(author)
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Oliveira, Guiomar
(author)
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Papanikolaou, Katerina
(author)
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Parr, Jeremy R
(author)
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Parrini, Barbara
(author)
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Paton, Tara
(author)
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Pickles, Andrew
(author)
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Pilorge, Marion
(author)
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Piven, Joseph
(author)
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Ponting, Chris P
(author)
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Posey, David J
(author)
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Poustka, Annemarie
(author)
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Poustka, Fritz
(author)
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Prasad, Aparna
(author)
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Ragoussis, Jiannis
(author)
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Renshaw, Katy
(author)
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Rickaby, Jessica
(author)
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Roberts, Wendy
(author)
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Roeder, Kathryn
(author)
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Roge, Bernadette
(author)
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Rutter, Michael L
(author)
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Bierut, Laura J
(author)
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Rice, John P
(author)
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Salt, Jeff
(author)
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Sansom, Katherine
(author)
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Sato, Daisuke
(author)
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Segurado, Ricardo
(author)
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Sequeira, Ana F
(author)
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Senman, Lili
(author)
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Shah, Naisha
(author)
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Sheffield, Val C
(author)
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Soorya, Latha
(author)
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Sousa, Ines
(author)
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Stein, Olaf
(author)
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Sykes, Nuala
(author)
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Stoppioni, Vera
(author)
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Strawbridge, Christina
(author)
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Tancredi, Raffaella
(author)
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Tansey, Katherine
(author)
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Thiruvahindrapduram, Bhooma
(author)
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Thompson, Ann P
(author)
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Thomson, Susanne
(author)
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Tryfon, Ana
(author)
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Tsiantis, John
(author)
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Van Engeland, Herman
(author)
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Vincent, John B
(author)
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Volkmar, Fred
(author)
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Wallace, Simon
(author)
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Wang, Kai
(author)
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Wang, Zhouzhi
(author)
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Wassink, Thomas H
(author)
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Webber, Caleb
(author)
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Weksberg, Rosanna
(author)
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Wing, Kirsty
(author)
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Wittemeyer, Kerstin
(author)
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Wood, Shawn
(author)
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Wu, J.
(author)
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Yaspan, Brian L
(author)
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Zurawiecki, Danielle
(author)
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Zwaigenbaum, Lonnie
(author)
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Buxbaum, Joseph D
(author)
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Cantor, Rita M
(author)
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Cook, Edwin H
(author)
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Coon, Hilary
(author)
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Cuccaro, Michael L
(author)
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Devlin, Bernie
(author)
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Ennis, Sean
(author)
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Gallagher, Louise
(author)
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Geschwind, Daniel H
(author)
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Gill, Michael
(author)
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Haines, Jonathan L
(author)
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Hallmayer, Joachim
(author)
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Miller, Judith
(author)
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Monaco, Anthony P
(author)
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Nurnberger, John I
(author)
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Paterson, Andrew D
(author)
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Pericak-Vance, Margaret A
(author)
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Schellenberg, Gerard D
(author)
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Szatmari, Peter
(author)
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Vicente, Astrid M
(author)
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Vieland, Veronica J
(author)
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Wijsman, Ellen M
(author)
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Scherer, Stephen W
(author)
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Sutcliffe, James S
(author)
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Betancur, Catalina
(author)
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Göteborgs universitetInstitutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
(creator_code:org_t)
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In:Nature: Springer Science and Business Media LLC466:7304, s. 368-3720028-08361476-4687
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Pinto, Dalila
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Pagnamenta, Alis ...
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Klei, Lambertus
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Anney, Richard
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Merico, Daniele
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Regan, Regina
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show more...
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Conroy, Judith
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Magalhaes, Tiago ...
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Correia, Catarin ...
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Abrahams, Brett ...
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Almeida, Joana
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Bacchelli, Elena
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Bader, Gary D
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Bailey, Anthony ...
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Baird, Gillian
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Battaglia, Agati ...
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Berney, Tom
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Bolshakova, Nadi ...
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Boelte, Sven
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Bolton, Patrick ...
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Bourgeron, Thoma ...
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Brennan, Sean
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Brian, Jessica
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Bryson, Susan E
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Carson, Andrew R
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Casallo, Guiller ...
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Casey, Jillian
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Chung, Brian H Y
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Cochrane, Lynne
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Corsello, Christ ...
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Crawford, Emily ...
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Crossett, Andrew
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Cytrynbaum, Cher ...
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Dawson, Geraldin ...
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de Jonge, Mareth ...
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Delorme, Richard
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Drmic, Irene
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Duketis, Eftichi ...
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Duque, Frederico
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Estes, Annette
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Farrar, Penny
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Fernandez, Bridg ...
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Folstein, Susan ...
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Fombonne, Eric
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Freitag, Christi ...
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Gilbert, John
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Gillberg, Christ ...
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Glessner, Joseph ...
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Goldberg, Jeremy
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Green, Andrew
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Green, Jonathan
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Guter, Stephen J
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Hakonarson, Hako ...
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Heron, Elizabeth ...
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Hill, Matthew
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Holt, Richard
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Howe, Jennifer L
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Hughes, Gillian
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Hus, Vanessa
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Igliozzi, Robert ...
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Kim, Cecilia
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Klauck, Sabine M
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Kolevzon, Alexan ...
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Korvatska, Olena
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Kustanovich, Vla ...
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Lajonchere, Clar ...
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Lamb, Janine A
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Laskawiec, Magda ...
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Leboyer, Marion
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Le Couteur, Ann
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Leventhal, Benne ...
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Lionel, Anath C
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Liu, Xiao-Qing
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Lord, Catherine
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Lotspeich, Linda
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Lund, Sabata C
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Maestrini, Elena
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Mahoney, William
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Mantoulan, Carin ...
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Marshall, Christ ...
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McConachie, Hele ...
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McDougle, Christ ...
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McGrath, Jane
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McMahon, William ...
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Merikangas, Alis ...
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Migita, Ohsuke
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Minshew, Nancy J
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Mirza, Ghazala K
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Munson, Jeff
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Nelson, Stanley ...
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Noakes, Carolyn
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Noor, Abdul
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Nygren, Gudrun, ...
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Oliveira, Guioma ...
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Papanikolaou, Ka ...
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Parr, Jeremy R
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Parrini, Barbara
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Paton, Tara
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Pickles, Andrew
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Pilorge, Marion
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Piven, Joseph
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Ponting, Chris P
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Posey, David J
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Poustka, Annemar ...
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Poustka, Fritz
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Prasad, Aparna
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Ragoussis, Jiann ...
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Renshaw, Katy
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Rickaby, Jessica
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Roberts, Wendy
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Roeder, Kathryn
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Roge, Bernadette
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Rutter, Michael ...
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Bierut, Laura J
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Rice, John P
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Salt, Jeff
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Sansom, Katherin ...
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Sato, Daisuke
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Segurado, Ricard ...
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Sequeira, Ana F
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Senman, Lili
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Shah, Naisha
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Sheffield, Val C
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Soorya, Latha
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Sousa, Ines
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Stein, Olaf
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Sykes, Nuala
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Stoppioni, Vera
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Strawbridge, Chr ...
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Tancredi, Raffae ...
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Tansey, Katherin ...
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Thiruvahindrapdu ...
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Thompson, Ann P
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Thomson, Susanne
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Tryfon, Ana
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Tsiantis, John
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Van Engeland, He ...
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Vincent, John B
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Volkmar, Fred
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Wallace, Simon
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Wang, Kai
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Wang, Zhouzhi
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Wassink, Thomas ...
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Webber, Caleb
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Weksberg, Rosann ...
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Wing, Kirsty
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Wittemeyer, Kers ...
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Wood, Shawn
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Wu, J.
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Yaspan, Brian L
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Zurawiecki, Dani ...
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Zwaigenbaum, Lon ...
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Buxbaum, Joseph ...
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Cantor, Rita M
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Cook, Edwin H
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Coon, Hilary
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Cuccaro, Michael ...
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Devlin, Bernie
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Ennis, Sean
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Gallagher, Louis ...
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Geschwind, Danie ...
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Gill, Michael
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Haines, Jonathan ...
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Hallmayer, Joach ...
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Miller, Judith
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Monaco, Anthony ...
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Nurnberger, John ...
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Paterson, Andrew ...
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Pericak-Vance, M ...
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Schellenberg, Ge ...
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Szatmari, Peter
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Vicente, Astrid ...
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Vieland, Veronic ...
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Wijsman, Ellen M
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Scherer, Stephen ...
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Sutcliffe, James ...
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Betancur, Catali ...
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