WFRF:(Roberts Christopher J.)
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 10454naa a2202653 4500 | |
| 001 | oai:gup.ub.gu.se/139247 | |
| 003 | SwePub | |
| 008 | 240528s2010 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/1392472 URI |
| 024 | 7 | a https://doi.org/10.1038/nature091462 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Pinto, Dalila4 aut |
| 245 | 1 0 | a Functional impact of global rare copy number variation in autism spectrum disorders. |
| 264 | c 2010-06-09 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2010 |
| 520 | a 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. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng |
| 653 | a Case-Control Studies | |
| 653 | a Cell Movement | |
| 653 | a Child | |
| 653 | a Child Development Disorders | |
| 653 | a Pervasive | |
| 653 | a Genetics | |
| 653 | a Pathology | |
| 653 | a Physiopathology | |
| 653 | a Cytoprotection | |
| 653 | a DNA Copy Number Variations | |
| 653 | a Genetics | |
| 653 | a Europe | |
| 653 | a Ethnology | |
| 653 | a Gene Dosage | |
| 653 | a Genetics | |
| 653 | a Genetic Predisposition to Disease | |
| 653 | a Genetics | |
| 653 | a Genome-Wide Association Study | |
| 653 | a Humans | |
| 653 | a Signal Transduction | |
| 653 | a Social Behavior | |
| 700 | 1 | a Pagnamenta, Alistair T4 aut |
| 700 | 1 | a Klei, Lambertus4 aut |
| 700 | 1 | a Anney, Richard4 aut |
| 700 | 1 | a Merico, Daniele4 aut |
| 700 | 1 | a Regan, Regina4 aut |
| 700 | 1 | a Conroy, Judith4 aut |
| 700 | 1 | a Magalhaes, Tiago R4 aut |
| 700 | 1 | a Correia, Catarina4 aut |
| 700 | 1 | a Abrahams, Brett S4 aut |
| 700 | 1 | a Almeida, Joana4 aut |
| 700 | 1 | a Bacchelli, Elena4 aut |
| 700 | 1 | a Bader, Gary D4 aut |
| 700 | 1 | a Bailey, Anthony J4 aut |
| 700 | 1 | a Baird, Gillian4 aut |
| 700 | 1 | a Battaglia, Agatino4 aut |
| 700 | 1 | a Berney, Tom4 aut |
| 700 | 1 | a Bolshakova, Nadia4 aut |
| 700 | 1 | a Boelte, Sven4 aut |
| 700 | 1 | a Bolton, Patrick F.4 aut |
| 700 | 1 | a Bourgeron, Thomas4 aut |
| 700 | 1 | a Brennan, Sean4 aut |
| 700 | 1 | a Brian, Jessica4 aut |
| 700 | 1 | a Bryson, Susan E4 aut |
| 700 | 1 | a Carson, Andrew R4 aut |
| 700 | 1 | a Casallo, Guillermo4 aut |
| 700 | 1 | a Casey, Jillian4 aut |
| 700 | 1 | a Chung, Brian H Y4 aut |
| 700 | 1 | a Cochrane, Lynne4 aut |
| 700 | 1 | a Corsello, Christina4 aut |
| 700 | 1 | a Crawford, Emily L4 aut |
| 700 | 1 | a Crossett, Andrew4 aut |
| 700 | 1 | a Cytrynbaum, Cheryl4 aut |
| 700 | 1 | a Dawson, Geraldine4 aut |
| 700 | 1 | a de Jonge, Maretha4 aut |
| 700 | 1 | a Delorme, Richard4 aut |
| 700 | 1 | a Drmic, Irene4 aut |
| 700 | 1 | a Duketis, Eftichia4 aut |
| 700 | 1 | a Duque, Frederico4 aut |
| 700 | 1 | a Estes, Annette4 aut |
| 700 | 1 | a Farrar, Penny4 aut |
| 700 | 1 | a Fernandez, Bridget A4 aut |
| 700 | 1 | a Folstein, Susan E4 aut |
| 700 | 1 | a Fombonne, Eric4 aut |
| 700 | 1 | a Freitag, Christine M4 aut |
| 700 | 1 | a Gilbert, John4 aut |
| 700 | 1 | a Gillberg, Christopher,d 1950u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xgilch |
| 700 | 1 | a Glessner, Joseph T4 aut |
| 700 | 1 | a Goldberg, Jeremy4 aut |
| 700 | 1 | a Green, Andrew4 aut |
| 700 | 1 | a Green, Jonathan4 aut |
| 700 | 1 | a Guter, Stephen J4 aut |
| 700 | 1 | a Hakonarson, Hakon4 aut |
| 700 | 1 | a Heron, Elizabeth A4 aut |
| 700 | 1 | a Hill, Matthew4 aut |
| 700 | 1 | a Holt, Richard4 aut |
| 700 | 1 | a Howe, Jennifer L4 aut |
| 700 | 1 | a Hughes, Gillian4 aut |
| 700 | 1 | a Hus, Vanessa4 aut |
| 700 | 1 | a Igliozzi, Roberta4 aut |
| 700 | 1 | a Kim, Cecilia4 aut |
| 700 | 1 | a Klauck, Sabine M4 aut |
| 700 | 1 | a Kolevzon, Alexander4 aut |
| 700 | 1 | a Korvatska, Olena4 aut |
| 700 | 1 | a Kustanovich, Vlad4 aut |
| 700 | 1 | a Lajonchere, Clara M4 aut |
| 700 | 1 | a Lamb, Janine A4 aut |
| 700 | 1 | a Laskawiec, Magdalena4 aut |
| 700 | 1 | a Leboyer, Marion4 aut |
| 700 | 1 | a Le Couteur, Ann4 aut |
| 700 | 1 | a Leventhal, Bennett L4 aut |
| 700 | 1 | a Lionel, Anath C4 aut |
| 700 | 1 | a Liu, Xiao-Qing4 aut |
| 700 | 1 | a Lord, Catherine4 aut |
| 700 | 1 | a Lotspeich, Linda4 aut |
| 700 | 1 | a Lund, Sabata C4 aut |
| 700 | 1 | a Maestrini, Elena4 aut |
| 700 | 1 | a Mahoney, William4 aut |
| 700 | 1 | a Mantoulan, Carine4 aut |
| 700 | 1 | a Marshall, Christian R4 aut |
| 700 | 1 | a McConachie, Helen4 aut |
| 700 | 1 | a McDougle, Christopher J4 aut |
| 700 | 1 | a McGrath, Jane4 aut |
| 700 | 1 | a McMahon, William M4 aut |
| 700 | 1 | a Merikangas, Alison4 aut |
| 700 | 1 | a Migita, Ohsuke4 aut |
| 700 | 1 | a Minshew, Nancy J4 aut |
| 700 | 1 | a Mirza, Ghazala K4 aut |
| 700 | 1 | a Munson, Jeff4 aut |
| 700 | 1 | a Nelson, Stanley F4 aut |
| 700 | 1 | a Noakes, Carolyn4 aut |
| 700 | 1 | a Noor, Abdul4 aut |
| 700 | 1 | a Nygren, Gudrun,d 1957u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xnygrg |
| 700 | 1 | a Oliveira, Guiomar4 aut |
| 700 | 1 | a Papanikolaou, Katerina4 aut |
| 700 | 1 | a Parr, Jeremy R4 aut |
| 700 | 1 | a Parrini, Barbara4 aut |
| 700 | 1 | a Paton, Tara4 aut |
| 700 | 1 | a Pickles, Andrew4 aut |
| 700 | 1 | a Pilorge, Marion4 aut |
| 700 | 1 | a Piven, Joseph4 aut |
| 700 | 1 | a Ponting, Chris P4 aut |
| 700 | 1 | a Posey, David J4 aut |
| 700 | 1 | a Poustka, Annemarie4 aut |
| 700 | 1 | a Poustka, Fritz4 aut |
| 700 | 1 | a Prasad, Aparna4 aut |
| 700 | 1 | a Ragoussis, Jiannis4 aut |
| 700 | 1 | a Renshaw, Katy4 aut |
| 700 | 1 | a Rickaby, Jessica4 aut |
| 700 | 1 | a Roberts, Wendy4 aut |
| 700 | 1 | a Roeder, Kathryn4 aut |
| 700 | 1 | a Roge, Bernadette4 aut |
| 700 | 1 | a Rutter, Michael L4 aut |
| 700 | 1 | a Bierut, Laura J4 aut |
| 700 | 1 | a Rice, John P4 aut |
| 700 | 1 | a Salt, Jeff4 aut |
| 700 | 1 | a Sansom, Katherine4 aut |
| 700 | 1 | a Sato, Daisuke4 aut |
| 700 | 1 | a Segurado, Ricardo4 aut |
| 700 | 1 | a Sequeira, Ana F4 aut |
| 700 | 1 | a Senman, Lili4 aut |
| 700 | 1 | a Shah, Naisha4 aut |
| 700 | 1 | a Sheffield, Val C4 aut |
| 700 | 1 | a Soorya, Latha4 aut |
| 700 | 1 | a Sousa, Ines4 aut |
| 700 | 1 | a Stein, Olaf4 aut |
| 700 | 1 | a Sykes, Nuala4 aut |
| 700 | 1 | a Stoppioni, Vera4 aut |
| 700 | 1 | a Strawbridge, Christina4 aut |
| 700 | 1 | a Tancredi, Raffaella4 aut |
| 700 | 1 | a Tansey, Katherine4 aut |
| 700 | 1 | a Thiruvahindrapduram, Bhooma4 aut |
| 700 | 1 | a Thompson, Ann P4 aut |
| 700 | 1 | a Thomson, Susanne4 aut |
| 700 | 1 | a Tryfon, Ana4 aut |
| 700 | 1 | a Tsiantis, John4 aut |
| 700 | 1 | a Van Engeland, Herman4 aut |
| 700 | 1 | a Vincent, John B4 aut |
| 700 | 1 | a Volkmar, Fred4 aut |
| 700 | 1 | a Wallace, Simon4 aut |
| 700 | 1 | a Wang, Kai4 aut |
| 700 | 1 | a Wang, Zhouzhi4 aut |
| 700 | 1 | a Wassink, Thomas H4 aut |
| 700 | 1 | a Webber, Caleb4 aut |
| 700 | 1 | a Weksberg, Rosanna4 aut |
| 700 | 1 | a Wing, Kirsty4 aut |
| 700 | 1 | a Wittemeyer, Kerstin4 aut |
| 700 | 1 | a Wood, Shawn4 aut |
| 700 | 1 | a Wu, J.4 aut |
| 700 | 1 | a Yaspan, Brian L4 aut |
| 700 | 1 | a Zurawiecki, Danielle4 aut |
| 700 | 1 | a Zwaigenbaum, Lonnie4 aut |
| 700 | 1 | a Buxbaum, Joseph D4 aut |
| 700 | 1 | a Cantor, Rita M4 aut |
| 700 | 1 | a Cook, Edwin H4 aut |
| 700 | 1 | a Coon, Hilary4 aut |
| 700 | 1 | a Cuccaro, Michael L4 aut |
| 700 | 1 | a Devlin, Bernie4 aut |
| 700 | 1 | a Ennis, Sean4 aut |
| 700 | 1 | a Gallagher, Louise4 aut |
| 700 | 1 | a Geschwind, Daniel H4 aut |
| 700 | 1 | a Gill, Michael4 aut |
| 700 | 1 | a Haines, Jonathan L4 aut |
| 700 | 1 | a Hallmayer, Joachim4 aut |
| 700 | 1 | a Miller, Judith4 aut |
| 700 | 1 | a Monaco, Anthony P4 aut |
| 700 | 1 | a Nurnberger, John I4 aut |
| 700 | 1 | a Paterson, Andrew D4 aut |
| 700 | 1 | a Pericak-Vance, Margaret A4 aut |
| 700 | 1 | a Schellenberg, Gerard D4 aut |
| 700 | 1 | a Szatmari, Peter4 aut |
| 700 | 1 | a Vicente, Astrid M4 aut |
| 700 | 1 | a Vieland, Veronica J4 aut |
| 700 | 1 | a Wijsman, Ellen M4 aut |
| 700 | 1 | a Scherer, Stephen W4 aut |
| 700 | 1 | a Sutcliffe, James S4 aut |
| 700 | 1 | a Betancur, Catalina4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org |
| 773 | 0 | t Natured : Springer Science and Business Media LLCg 466:7304, s. 368-372q 466:7304<368-372x 0028-0836x 1476-4687 |
| 856 | 4 | u https://www.nature.com/articles/nature09146.pdf |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/139247 |
| 856 | 4 8 | u https://doi.org/10.1038/nature09146 |
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