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by Locke, Adam E and Kahali, Bratati and Berndt, Sonja I and Justice, Anne E and Pers, Tune H and Day, Felix R and Powell, Corey and Vedantam, Sailaja and Buchkovich, Martin L and Yang, Jian and Croteau-Chonka, Damien C and Esko, Tonu and Fall, Tove and Ferreira, Teresa and Gustafsson, Stefan and Kutalik, Zoltán and Luan, Jian’an and Mägi, Reedik and Randall, Joshua C and Winkler, Thomas W and Wood, Andrew R and Workalemahu, Tsegaselassie and Faul, Jessica D and Smith, Jennifer A and Hua Zhao, Jing and Zhao, Wei and Chen, Jin and Fehrmann, Rudolf and Hedman, Åsa K and Karjalainen, Juha and Schmidt, Ellen M and Absher, Devin and Amin, Najaf and Anderson, Denise and Beekman, Marian and Bolton, Jennifer L and Bragg-Gresham, Jennifer L and Buyske, Steven and Demirkan, Ayse and Deng, Guohong and Ehret, Georg B and Feenstra, Bjarke and Feitosa, Mary F and Fischer, Krista and Goel, Anuj and Gong, Jian and Jackson, Anne U and Kanoni, Stavroula and Kleber, Marcus E and Kristiansson, Kati and Lim, Unhee and Lotay, Vaneet and Mangino, Massimo and Mateo Leach, Irene and Medina-Gomez, Carolina and Medland, Sarah E and Nalls, Michael A and Palmer, Cameron D and Pasko, Dorota and Pechlivanis, Sonali and Peters, Marjolein J and Prokopenko, Inga and Shungin, Dmitry and Stančáková, Alena and Strawbridge, Rona J and Ju Sung, Yun and Tanaka, Toshiko and Teumer, Alexander and Trompet, Stella and van der Laan, Sander W and van Setten, Jessica and Van Vliet-Ostaptchouk, Jana V and Wang, Zhaoming and Yengo, Loïc and Zhang, Weihua and Isaacs, Aaron and Albrecht, Eva and Ärnlöv, Johan and Arscott, Gillian M and Attwood, Antony P and Bandinelli, Stefania and Barrett, Amy and Bas, Isabelita N and Bellis, Claire and Bennett, Amanda J and Berne, Christian and Blagieva, Roza and Blüher, Matthias and Böhringer, Stefan and Bonnycastle, Lori L and Böttcher, Yvonne and Boyd, Heather A and Bruinenberg, Marcel and Caspersen, Ida H and Ida Chen, Yii-Der and Clarke, Robert and Warwick Daw, E and de Craen, Anton J. M and Delgado, Graciela and Dimitriou, Maria and ... and The PAGE Consortium and The International Endogene Consortium and The MAGIC Investigators and The ReproGen Consortium and The CKDGen Consortium and The ADIPOGen Consortium and The ICBP and The CARDIOGRAMplusC4D Consortium and The GLGC and The GENIE Consortium and The AGEN-BMI Working Group and The MIGen Consortium and The MuTHER Consortium and The LifeLines Cohort Study and ADIPOGen Consortium and PAGE Consortium and LifeLines Cohort Study and MIGen Consortium and CARDIOGRAMplusC4D Consortium and MuTHER Consortium and ICBP and CKDGen Consortium and Int Endogene Consortium and GENIE Consortium and MAGIC Investigators and ReproGen Consortium and AGEN-BMI Working Grp and GLGC and International Endogene Consortium and AGEN-BMI Working Group
Nature (London), ISSN 1476-4687, 2015, Volume 518, Issue 7538, pp. 197 - 206
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI... 
INDIVIDUALS | PROVIDES INSIGHTS | METAANALYSIS | VARIANTS | MULTIDISCIPLINARY SCIENCES | HIPPOCAMPAL | GLYCEMIC TRAITS | ARCHITECTURE | TOPIRAMATE | LOCI | GENOME-WIDE ASSOCIATION | Body Mass Index | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Age Factors | Humans | Male | Continental Population Groups - genetics | Adiposity - genetics | Obesity - genetics | Europe - ethnology | Obesity - metabolism | Insulin - metabolism | Synapses - metabolism | Polymorphism, Single Nucleotide - genetics | Female | Glutamic Acid - metabolism | Energy Metabolism - genetics | Adipogenesis - genetics | Insulin Secretion | Quantitative Trait Loci - genetics | Body mass index | Obesity | Genetic research | Genetic aspects | Research | Diabetes | Gene expression | Health aspects | Studies | Genomics | Genetics | Biology | Genomes | Metabolic disorders | Meta-analysis | Medical and Health Sciences | Insulin: metabolism | Medicin och hälsovetenskap | Obesity: genetics | Europe: ethnology | Glutamic Acid: metabolism | Genetic Predisposition to Disease: genetics | Single Nucleotide: genetics | Klinisk medicin | Synapses: metabolism | Adiposity: genetics | Obesity: metabolism | Clinical Medicine | Energy Metabolism: genetics | Endokrinologi och diabetes | Quantitative Trait Loci: genetics | Insulin: secretion | Adipogenesis: genetics | Polymorphism | Continental Population Groups: genetics | Endocrinology and Diabetes
Journal Article
Journal Article
Nature (London), ISSN 1476-4687, 2013, Volume 500, Issue 7463, pp. 422 - 426
Journal Article
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 1470 - 10
Journal Article
PLoS genetics, ISSN 1553-7404, 2019, Volume 15, Issue 6, p. e1008201
Journal Article
PLoS genetics, ISSN 1553-7404, 2014, Volume 10, Issue 9, p. e1004580
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 1553-7404, 2012, Volume 8, Issue 2, p. e1002521
.... While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations... 
SYNAPTIC PROTEINS | RARE DE-NOVO | MENTAL-RETARDATION | HIDDEN-MARKOV MODEL | SCAFFOLDING PROTEIN SHANK3 | GENETICS & HEREDITY | RECURRENT MICRODELETIONS | 15Q13.3 | POSTSYNAPTIC DENSITY | COPY-NUMBER VARIATION | CRITICAL REGION | 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