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11 |
Material Type: Artigo
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Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum DisordersO'Roak, Brian J. ; Vives, Laura ; Fu, Wenqing ; Egertson, Jarrett D. ; Stanaway, Ian B. ; Phelps, Ian G. ; Carvill, Gemma ; Kumar, Akash ; Lee, Choli ; Ankenman, Katy ; Munson, Jeff ; Hiatt, Joseph B. ; Turner, Emily H. ; Levy, Roie ; O'Day, Diana R. ; Krumm, Niklas ; Coe, Bradley P. ; Martin, Beth K. ; Borenstein, Elhanan ; Nickerson, Deborah A. ; Mefford, Heather C. ; Doherty, Dan ; Akey, Joshua M. ; Bernier, Raphael ; Eichler, Evan E. ; Shendure, JayScience (American Association for the Advancement of Science), 2012-12, Vol.338 (6114), p.1619-1622 [Periódico revisado por pares]Washington, DC: American Association for the Advancement of ScienceTexto completo disponível |
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12 |
Material Type: Artigo
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Heritability of Autism Spectrum Disorder in a UK Population-Based Twin SampleColvert, Emma ; Tick, Beata ; McEwen, Fiona ; Stewart, Catherine ; Curran, Sarah R ; Woodhouse, Emma ; Gillan, Nicola ; Hallett, Victoria ; Lietz, Stephanie ; Garnett, Tracy ; Ronald, Angelica ; Plomin, Robert ; Rijsdijk, Frühling ; Happé, Francesca ; Bolton, PatrickJAMA psychiatry (Chicago, Ill.), 2015-05, Vol.72 (5), p.415-423 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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Material Type: Artigo
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Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion SyndromeSchneider, Maude ; Debbané, Martin ; Bassett, Anne S. ; Chow, Eva W.C. ; Fung, Wai Lun Alan ; van den Bree, Marianne B.M. ; Owen, Michael ; Murphy, Kieran C. ; Niarchou, Maria ; Kates, Wendy R. ; Antshel, Kevin M. ; Fremont, Wanda ; McDonald-McGinn, Donna M. ; Gur, Raquel E. ; Zackai, Elaine H. ; Vorstman, Jacob ; Duijff, Sasja N. ; Klaassen, Petra W.J. ; Swillen, Ann ; Gothelf, Doron ; Green, Tamar ; Weizman, Abraham ; Van Amelsvoort, Therese ; Evers, Laurens ; Boot, Erik ; Shashi, Vandana ; Hooper, Stephen R. ; Bearden, Carrie E. ; Jalbrzikowski, Maria ; Armando, Marco ; Vicari, Stefano ; Murphy, Declan G. ; Ousley, Opal ; Campbell, Linda E. ; Simon, Tony J. ; Eliez, StephanThe American journal of psychiatry, 2014-06, Vol.171 (6), p.627-639 [Periódico revisado por pares]United States: American Psychiatric AssociationTexto completo disponível |
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14 |
Material Type: Artigo
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The contribution of de novo coding mutations to autism spectrum disorderIossifov, Ivan ; O'Roak, Brian J ; Sanders, Stephan J ; Ronemus, Michael ; Krumm, Niklas ; Levy, Dan ; Stessman, Holly A ; Witherspoon, Kali T ; Vives, Laura ; Patterson, Karynne E ; Smith, Joshua D ; Paeper, Bryan ; Nickerson, Deborah A ; Dea, Jeanselle ; Dong, Shan ; Gonzalez, Luis E ; Mandell, Jeffrey D ; Mane, Shrikant M ; Murtha, Michael T ; Sullivan, Catherine A ; Walker, Michael F ; Waqar, Zainulabedin ; Wei, Liping ; Willsey, A Jeremy ; Yamrom, Boris ; Lee, Yoon-ha ; Grabowska, Ewa ; Dalkic, Ertugrul ; Wang, Zihua ; Marks, Steven ; Andrews, Peter ; Leotta, Anthony ; Kendall, Jude ; Hakker, Inessa ; Rosenbaum, Julie ; Ma, Beicong ; Rodgers, Linda ; Troge, Jennifer ; Narzisi, Giuseppe ; Yoon, Seungtai ; Schatz, Michael C ; Ye, Kenny ; McCombie, W Richard ; Shendure, Jay ; Eichler, Evan E ; State, Matthew W ; Wigler, MichaelNature (London), 2014-11, Vol.515 (7526), p.216-221 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPsFaraone, Stephen V ; Absher, Devin ; Akil, Huda ; Arking, Dan E ; Badner, Judith A ; Barchas, Jack D ; Barrett, Thomas B ; Battaglia, Agatino ; Bayés, Mònica ; Bergen, Sarah E ; Bettecken, Thomas ; Biederman, Joseph ; Buitelaar, Jan K ; Byerley, William F ; Caesar, Sian ; Cahn, Wiepke ; Chakravarti, Aravinda ; Cichon, Sven ; Cook, Edwin H ; Corvin, Aiden ; Coryell, William H ; Crosbie, Jennifer ; Curtis, David ; Doyle, Alysa E ; Elia, Josephine ; Ennis, Sean ; Fanous, Ayman ; Farmer, Anne E ; Ferrier, I Nicol ; Foroud, Tatiana ; Freedman, Robert ; Gershon, Elliot S ; Giegling, Ina ; Gordon, Scott D ; Gross, Magdalena ; Gurling, Hugh ; Hipolito, Maria ; Jones, Edward G ; Jones, Lisa ; Kahn, René S ; Kent, Lindsey ; Kim, Yunjung ; Kohli, Martin A ; Krasucki, Robert ; Lawson, William B ; Li, Jun ; Lin, Dan-Yu ; Lowe, Jennifer K ; Magnusson, Patrik K E ; Mahon, Pamela B ; Mane, Shrikant M ; McCarroll, Steven A ; McGough, James J ; McInnis, Melvin G ; McKinney, Rebecca ; McMahon, Francis J ; Medeiros, Helena ; Middeldorp, Christel M ; Miranda, Ana ; Monaco, Anthony P ; Morris, Derek W ; Morrow, Eric M ; Müller-Myhsok, Bertram ; Nikolov, Ivan ; Nolen, Willem A ; Nurnberger, John I ; Nyholt, Dale R ; Parr, Jeremy R ; Pato, Carlos N ; Piven, Joseph ; Rossin, Lizzy ; Sanders, Stephan J ; Schalling, Martin ; Scheftner, William A ; Schellenberg, Gerard D ; Schumacher, Johannes ; Schwarz, Markus ; Shilling, Paul D ; Smit, Johannes H ; Sonuga-Barke, Edmund J S ; St Clair, David ; Steffens, Michael ; Steinhausen, Hans-Christoph ; Strohmaier, Jana ; Szatmari, Peter ; Thompson, Robert C ; Uhr, Manfred ; Van Grootheest, Gerard ; Vicente, Astrid M ; Vincent, John B ; Weissman, Myrna M ; Wijsman, Ellen M ; Williams, Nigel ; Willsey, A Jeremy ; Zöllner, Sebastian ; Sklar, Pamela ; O'Donovan, Michael C ; Craddock, Nicholas ; Sullivan, Patrick F ; Kendler, Kenneth SNature genetics, 2013-09, Vol.45 (9), p.984-994 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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16 |
Material Type: Artigo
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The role of de novo mutations in the genetics of autism spectrum disordersRonemus, Michael ; Iossifov, Ivan ; Levy, Dan ; Wigler, MichaelNature reviews. Genetics, 2014-02, Vol.15 (2), p.133-141 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Activity-dependent neuronal signalling and autism spectrum disorderEbert, Daniel H ; Greenberg, Michael ENature (London), 2013-01, Vol.493 (7432), p.327-337 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum DisorderTammimies, Kristiina ; Marshall, Christian R ; Walker, Susan ; Kaur, Gaganjot ; Thiruvahindrapuram, Bhooma ; Lionel, Anath C ; Yuen, Ryan K. C ; Uddin, Mohammed ; Roberts, Wendy ; Weksberg, Rosanna ; Woodbury-Smith, Marc ; Zwaigenbaum, Lonnie ; Anagnostou, Evdokia ; Wang, Zhuozhi ; Wei, John ; Howe, Jennifer L ; Gazzellone, Matthew J ; Lau, Lynette ; Sung, Wilson W. L ; Whitten, Kathy ; Vardy, Cathy ; Crosbie, Victoria ; Tsang, Brian ; D’Abate, Lia ; Tong, Winnie W. L ; Luscombe, Sandra ; Doyle, Tyna ; Carter, Melissa T ; Szatmari, Peter ; Stuckless, Susan ; Merico, Daniele ; Stavropoulos, Dimitri J ; Scherer, Stephen W ; Fernandez, Bridget AJAMA : the journal of the American Medical Association, 2015-09, Vol.314 (9), p.895-903 [Periódico revisado por pares]United States: American Medical AssociationTexto completo disponível |
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19 |
Material Type: Artigo
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The emerging role of SHANK genes in neuropsychiatric disordersGuilmatre, Audrey ; Huguet, Guillaume ; Delorme, Richard ; Bourgeron, ThomasDevelopmental neurobiology (Hoboken, N.J.), 2014-02, Vol.74 (2), p.113-122 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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20 |
Material Type: Artigo
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Sex differences in autism spectrum disordersWerling, Donna M ; Geschwind, Daniel HCurrent opinion in neurology, 2013-04, Vol.26 (2), p.146-153 [Periódico revisado por pares]EnglandTexto completo disponível |