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by De Rubeis, Silvia and He, Xin and Goldberg, Arthur P and Poultney, Christopher S and Samocha, Kaitlin and Cicek, A. Ercument and Kou, Yan and Liu, Li and Fromer, Menachem and Walker, Susan and Singh, Tarjinder and Klei, Lambertus and Kosmicki, Jack and Fu, Shih-Chen and Aleksic, Branko and Biscaldi, Monica and Bolton, Patrick F and Brownfeld, Jessica M and Cai, Jinlu and Campbell, Nicholas G and Carracedo, Angel and Chahrour, Maria H and Chiocchetti, Andreas G and Coon, Hilary and Crawford, Emily L and Crooks, Lucy and Curran, Sarah R and Dawson, Geraldine and Duketis, Eftichia and Fernandez, Bridget A and Gallagher, Louise and Geller, Evan and Guter, Stephen J and Hill, R. Sean and Ionita-Laza, Iuliana and Gonzalez, Patricia Jimenez and Kilpinen, Helena and Klauck, Sabine M and Kolevzon, Alexander and Lee, Irene and Lei, Jing and Lehtimäki, Terho and Lin, Chiao-Feng and Ma'ayan, Avi and Marshall, Christian R and McInnes, Alison L and Neale, Benjamin and Owen, Michael J and Ozaki, Norio and Parellada, Mara and Parr, Jeremy R and Purcell, Shaun and Puura, Kaija and Rajagopalan, Deepthi and Rehnström, Karola and Reichenberg, Abraham and Sabo, Aniko and Sachse, Michael and Sanders, Stephan J and Schafer, Chad and Schulte-Rüther, Martin and Skuse, David and Stevens, Christine and Szatmari, Peter and Tammimies, Kristiina and Valladares, Otto and Voran, Annette and Wang, Li-San and Weiss, Lauren A and Willsey, A. Jeremy and Yu, Timothy W and Yuen, Ryan K. C and Cook, Edwin H and Freitag, Christine M and Gill, Michael and Hultman, Christina M and Lehner, Thomas and Palotie, Aarno and Schellenberg, Gerard D and Sklar, Pamela and State, Matthew W and Sutcliffe, James S and Walsh, Christopher A and Scherer, Stephen W and Zwick, Michael E and Barrett, Jeffrey C and Cutler, David J and Roeder, Kathryn and Devlin, Bernie and Daly, Mark J and Buxbaum, Joseph D and Homozygosity Mapping Collaborative and DDD Study and Autism Sequencing Consortium and UK10K Consortium and Homozygosity Mapping Collaborative for Autism and The Autism Sequencing Consortium and The DDD Study
Nature, ISSN 0028-0836, 11/2014, Volume 515, Issue 7526, pp. 209 - 215
Journal Article
Journal Article
DNP - Der Neurologe und Psychiater, ISSN 1616-2455, 02/2014, Volume 15, Issue 2, pp. 44 - 54
Journal Article
by Gillberg, Christopher and Kolevzon, Alexander and Nelson, Stanley F and Sansom, Katherine and Casallo, Guillermo and Miller, Judith and Brennan, Sean and Leboyer, Marion and Bacchelli, Elena and Delorme, Richard and Fombonne, Eric and Hallmayer, Joachim and Green, Jonathan and Pickles, Andrew and Heron, Elizabeth A and Salt, Jeff and Battaglia, Agatino and Klauck, Sabine M and McDougle, Christopher J and Mahoney, William and Noor, Abdul and Cytrynbaum, Cheryl and Sato, Daisuke and Almeida, Joana and Korvatska, Olena and Dawson, Geraldine and Bierut, Laura J and Coon, Hilary and Rickaby, Jessica and Freitag, Christine M and Roeder, Kathryn and Bader, Gary D and Wijsman, Ellen M and Vincent, John B and Hakonarson, Hakon and Segurado, Ricardo and Paton, Tara and Roge, Bernadette and Ennis, Sean and Kim, Cecilia and Monaco, Anthony P and Paterson, Andrew D and Crossett, Andrew and McGrath, Jane and Carson, Andrew R and Le Couteur, Ann and Cook, Edwin H and Chung, Brian H.Y and Cuccaro, Michael L and Van Engeland, Herman and Conroy, Judith and Holt, Richard and Strawbridge, Christina and Kustanovich, Vlad and Migita, Ohsuke and Stoppioni, Vera and Igliozzi, Roberta and Poustka, Fritz and Stein, Olaf and Posey, David J and Sheffield, Val C and Duque, Frederico and Parrini, Barbara and Berney, Tom and Hus, Vanessa and Baird, Gillian and Duketis, Eftichia and Soorya, Latha and Corsello, Christina and Drmic, Irene and Sousa, Inês and Abrahams, Brett S and Thomson, Susanne and Lajonchere, Clara M and Tsiantis, John and Pinto, Dalila and Green, Andrew and Hughes, Gillian and Mantoulan, Carine and Betancur, Catalina and Volkmar, Fred and Poustka, Annemarie and Shah, Naisha and Bryson, Susan E and Munson, Jeff and Tancredi, Raffaella and Nygren, Gudrun and Wittemeyer, Kerstin and Merikangas, Alison and Oliveira, Guiomar and Farrar, Penny and Maestrini, Elena and Liu, Xiao-Qing and Gallagher, Louise and McConachie, Helen and Zurawiecki, Danielle and Schellenberg, Gerard D and Glessner, Joseph T and Lord, Catherine and Piven, Joseph and ... and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
Nature, ISSN 0028-0836, 07/2010, Volume 466, Issue 7304, pp. 368 - 372
Journal Article
by Leblond, Claire S and Heinrich, Jutta and Delorme, Richard and Proepper, Christian and Betancur, Catalina and Huguet, Guillaume and Konyukh, Marina and Chaste, Pauline and Ey, Elodie and Rastam, Maria and Anckarsäter, Henrik and Nygren, Gudrun and Gillberg, I. Carina and Melke, Jonas and Toro, Roberto and Regnault, Beatrice and Fauchereau, Fabien and Mercati, Oriane and Lemière, Nathalie and Skuse, David and Poot, Martin and Holt, Richard and Monaco, Anthony P and Järvelä, Irma and Kantojärvi, Katri and Vanhala, Raija and Curran, Sarah and Collier, David A and Bolton, Patrick and Chiocchetti, Andreas and Klauck, Sabine M and Poustka, Fritz and Freitag, Christine M and Waltes, Regina and Kopp, Marnie and Duketis, Eftichia and Bacchelli, Elena and Minopoli, Fiorella and Ruta, Liliana and Battaglia, Agatino and Mazzone, Luigi and Maestrini, Elena and Sequeira, Ana F and Oliveira, Barbara and Vicente, Astrid and Oliveira, Guiomar and Pinto, Dalila and Scherer, Stephen W and Zelenika, Diana and Delepine, Marc and Lathrop, Mark and Bonneau, Dominique and Guinchat, Vincent and Devillard, Françoise and Assouline, Brigitte and Mouren, Marie-Christine and Leboyer, Marion and Gillberg, Christopher and Boeckers, Tobias M and Bourgeron, Thomas and Gillberg Neuropsychiatry Centre and Göteborgs universitet and Gothenburg University and Institutionen för neurovetenskap och fysiologi, sektionen för farmakologi and Gillbergcentrum and Sahlgrenska Academy and Sahlgrenska akademin and Institute of Neuroscience and Physiology, Department of Pharmacology
PLoS Genetics, ISSN 1553-7390, 02/2012, Volume 8, Issue 2, p. e1002521
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in... 
15Q13.3 MICRODELETIONS | SNP GENOTYPING DATA | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HIDDEN-MARKOV MODEL | SCAFFOLDING PROTEIN SHANK3 | GENETICS & HEREDITY | RECURRENT MICRODELETIONS | PSYCHIATRIC-DISORDERS | POSTSYNAPTIC DENSITY | COPY-NUMBER VARIATION | Humans | Child, Preschool | Male | Neurons - cytology | Synapses - genetics | Synapses - pathology | Tissue Distribution | Protein Isoforms - metabolism | Adult | Female | Child | Cell Line | Gene Dosage - genetics | Receptors, Nicotinic - metabolism | RNA Splice Sites - genetics | Alternative Splicing - genetics | Gene Expression Regulation | Nerve Tissue Proteins - genetics | Child Development Disorders, Pervasive - genetics | Adaptor Proteins, Signal Transducing - genetics | Adaptor Proteins, Signal Transducing - metabolism | Receptors, Nicotinic - genetics | Protein Isoforms - genetics | Sequence Deletion - genetics | alpha7 Nicotinic Acetylcholine Receptor | Autism | Gene mutations | Physiological aspects | Genetic aspects | Research | Risk factors | Prevalence studies (Epidemiology) | Medical research | Genetics | Mutation | Genes | Sequence Deletion | RNA Splice Sites | Receptors, Nicotinic | Alternative Splicing | Neurons | Nerve Tissue Proteins | Gene Dosage | Life Sciences | Adaptor Proteins, Signal Transducing | Protein Isoforms | Child Development Disorders, Pervasive | Synapses | Pervasive | Cytology | Child Development Disorders | Receptors | Psykiatri | Preschool | Metabolism | Adaptor Proteins | Nicotinic | Pathology | Signal Transducing | Psychiatry
Journal Article
by Weiner, Daniel J and Wigdor, Emilie M and Ripke, Stephan and Walters, Raymond K and Kosmicki, Jack A and Grove, Jakob and Samocha, Kaitlin E and Goldstein, Jacqueline I and Okbay, Aysu and Bybjerg-Grauholm, Jonas and Werge, Thomas and Hougaard, David M and Taylor, Jacob and Skuse, David and Devlin, Bernie and Anney, Richard and Sanders, Stephan J and Bishop, Somer and Mortensen, Preben Bo and Børglum, Anders D and Smith, George Davey and Daly, Mark J and Robinson, Elise B and Bækvad-Hansen, Marie and Dumont, Ashley and Hansen, Christine and Hansen, Thomas F and Howrigan, Daniel and Mattheisen, Manuel and Moran, Jennifer and Mors, Ole and Nordentoft, Merete and Nørgaard-Pedersen, Bent and Poterba, Timothy and Poulsen, Jesper and Stevens, Christine and Anttila, Verneri and Holmans, Peter and Huang, Hailiang and Klei, Lambertus and Lee, Phil H and Medland, Sarah E and Neale, Benjamin and Weiss, Lauren A and Zwaigenbaum, Lonnie and Yu, Timothy W and Wittemeyer, Kerstin and Willsey, A Jeremy and Wijsman, Ellen M and Wassink, Thomas H and Waltes, Regina and Walsh, Christopher A and Wallace, Simon and Vorstman, Jacob A. S and Vieland, Veronica J and Vicente, Astrid M and Van Engeland, Herman and Tsang, Kathryn and Thompson, Ann P and Szatmari, Peter and Svantesson, Oscar and Steinberg, Stacy and Stefansson, Kari and Stefansson, Hreinn and State, Matthew W and Soorya, Latha and Silagadze, Teimuraz and Scherer, Stephen W and Schellenberg, Gerard D and Sandin, Sven and Saemundsen, Evald and Rouleau, Guy A and Rogé, Bernadette and Roeder, Kathryn and Roberts, Wendy and Reichert, Jennifer and Reichenberg, Abraham and Rehnström, Karola and Regan, Regina and Poustka, Fritz and Poultney, Christopher S and Piven, Joseph and Pinto, Dalila and Pericak-Vance, Margaret A and Pejovic-Milovancevic, Milica and Pedersen, Marianne G and Pedersen, Carsten B and Paterson, Andrew D and Parr, Jeremy R and Pagnamenta, Alistair T and Oliveira, Guiomar and Nurnberger, John I and Murtha, Michael T and Mouga, Susana and Morrow, Eric M and DeLuca, Daniel Moreno and Monaco, Anthony P and Minshew, Nancy and Merikangas, Alison and McMahon, William M and ... and Psychiat Genomics Consortium and iPSYCH-Broad Autism Grp and iPSYCH-Broad Autism Group and Psychiatric Genomics Consortium Autism Group and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Nature Genetics, ISSN 1061-4036, 07/2017, Volume 49, Issue 7, pp. 978 - 985
Journal Article