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by Lek, Monkol and Karczewski, Konrad J and Minikel, Eric V and Samocha, Kaitlin E and Banks, Eric and Fennell, Timothy and O’Donnell-Luria, Anne H and Ware, James S and Hill, Andrew J and Cummings, Beryl B and Tukiainen, Taru and Birnbaum, Daniel P and Kosmicki, Jack A and Duncan, Laramie E and Estrada, Karol and Zhao, Fengmei and Zou, James and Pierce-Hoffman, Emma and Berghout, Joanne and Cooper, David N and Deflaux, Nicole and DePristo, Mark and Do, Ron and Flannick, Jason and Fromer, Menachem and Gauthier, Laura and Goldstein, Jackie and Gupta, Namrata and Howrigan, Daniel and Kiezun, Adam and Kurki, Mitja I and Moonshine, Ami Levy and Natarajan, Pradeep and Orozco, Lorena and Peloso, Gina M and Poplin, Ryan and Rivas, Manuel A and Ruano-Rubio, Valentin and Rose, Samuel A and Ruderfer, Douglas M and Shakir, Khalid and Stenson, Peter D and Stevens, Christine and Thomas, Brett P and Tiao, Grace and Tusie-Luna, Maria T and Weisburd, Ben and Won, Hong-Hee and Yu, Dongmei and Altshuler, David M and Ardissino, Diego and Boehnke, Michael and Danesh, John and Donnelly, Stacey and Elosua, Roberto and Florez, Jose C and Gabriel, Stacey B and Getz, Gad and Glatt, Stephen J and Hultman, Christina M and Kathiresan, Sekar and Laakso, Markku and McCarroll, Steven and McCarthy, Mark I and McGovern, Dermot and McPherson, Ruth and Neale, Benjamin M and Palotie, Aarno and Purcell, Shaun M and Saleheen, Danish and Scharf, Jeremiah M and Sklar, Pamela and Sullivan, Patrick F and Tuomilehto, Jaakko and Tsuang, Ming T and Watkins, Hugh C and Wilson, James G and Daly, Mark J and MacArthur, Daniel G and Exome Aggregation Consortium
Nature (London), ISSN 1476-4687, 08/2016, Volume 536, Issue 7616, pp. 285 - 291
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2017, Volume 25, Issue 2, pp. 227 - 233
Germline mutation detection from human DNA sequence data is challenging due to the rarity of such events relative to the intrinsic error rates of sequencing... 
Journal Article
Genes, brain and behavior, ISSN 1601-1848, 10/2010, Volume 9, Issue 7, pp. 759 - 767
Prepulse inhibition (PPI) of the startle response is a measure of sensorimotor gating, a process that filters out extraneous sensory, motor and cognitive... 
startle | Advanced intercross lines | habituation | prepulse inhibition | schizophrenia | quantitative trait loci | sensorimotor gating | Quantitative trait loci | Sensorimotor gating | Schizophrenia | Startle | Habituation | Prepulse inhibition
Journal Article
Genes, brain and behavior, ISSN 1601-1848, 10/2010, Volume 9, Issue 7, p. 759
Journal Article
Nucleic acids research, ISSN 1362-4962, 01/2017, Volume 45, Issue D1, pp. D840 - D845
Worldwide, hundreds of thousands of humans have had their genomes or exomes sequenced, and access to the resulting data sets can provide valuable information... 
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Exome | User-Computer Interface | Computational Biology - methods | Humans | Databases, Genetic | Software | Genome-Wide Association Study - methods | Genomics - methods | Web Browser | Index Medicus | Database Issue
Journal Article
by Satterstrom, F. Kyle and Kosmicki, Jack A and Wang, Jiebiao and Breen, Michael S and De Rubeis, Silvia and An, Joon-Yong and Peng, Minshi and Collins, Ryan and Grove, Jakob and Klei, Lambertus and Stevens, Christine and Reichert, Jennifer and Mulhern, Maureen S and Artomov, Mykyta and Gerges, Sherif and Sheppard, Brooke and Xu, Xinyi and Bhaduri, Aparna and Norman, Utku and Brand, Harrison and Schwartz, Grace and Nguyen, Rachel and Guerrero, Elizabeth E and Dias, Caroline and Betancur, Catalina and Cook, Edwin H and Gallagher, Louise and Gill, Michael and Sutcliffe, James S and Thurm, Audrey and Zwick, Michael E and Børglum, Anders D and State, Matthew W and Cicek, A. Ercument and Talkowski, Michael E and Cutler, David J and Devlin, Bernie and Sanders, Stephan J and Roeder, Kathryn and Daly, Mark J and Buxbaum, Joseph D and Aleksic, Branko and Anney, Richard and Barbosa, Mafalda and Bishop, Somer and Brusco, Alfredo and Bybjerg-Grauholm, Jonas and Carracedo, Angel and Chan, Marcus C.Y and Chiocchetti, Andreas G and Chung, Brian H.Y and Coon, Hilary and Cuccaro, Michael L and Curró, Aurora and Dalla Bernardina, Bernardo and Doan, Ryan and Domenici, Enrico and Dong, Shan and Fallerini, Chiara and Fernández-Prieto, Montserrat and Ferrero, Giovanni Battista and Freitag, Christine M and Fromer, Menachem and Gargus, J. Jay and Geschwind, Daniel and Giorgio, Elisa and González-Peñas, Javier and Guter, Stephen and Halpern, Danielle and Hansen-Kiss, Emily and He, Xin and Herman, Gail E and Hertz-Picciotto, Irva and Hougaard, David M and Hultman, Christina M and Ionita-Laza, Iuliana and Jacob, Suma and Jamison, Jesslyn and Jugessur, Astanand and Kaartinen, Miia and Knudsen, Gun Peggy and Kolevzon, Alexander and Kushima, Itaru and Lee, So Lun and Lehtimäki, Terho and Lim, Elaine T and Lintas, Carla and Lipkin, W. Ian and Lopergolo, Diego and Lopes, Fátima and Ludena, Yunin and Maciel, Patricia and Magnus, Per and Mahjani, Behrang and Maltman, Nell and Manoach, Dara S and Meiri, Gal and Menashe, Idan and Miller, Judith and Minshew, Nancy and ... and Autism Sequencing Consortium and iPSYCH-Broad Consortium
Cell (Cambridge), ISSN 0092-8674, 02/2020, Volume 180, Issue 3, pp. 568 - 584.e23
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced... 
exome sequencing | genetics | neurodevelopment | cytoskeleton | liability | excitatory-inhibitory balance | excitatory neurons | cell type | autism spectrum disorder | inhibitory neurons | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Index Medicus
Journal Article
Molecular metabolism (Germany), ISSN 2212-8778, 2016, Volume 5, Issue 11, pp. 1083 - 1091
Abstract Objective The development of skeletal muscle insulin resistance is an early physiological defect, yet the intracellular mechanisms accounting for this... 
Endocrinology & Metabolism | Glucose metabolism | Insulin sensitivity | Enzyme activity | Life Sciences & Biomedicine | Science & Technology | Index Medicus
Journal Article
Neuron (Cambridge, Mass.), ISSN 0896-6273, 09/2015, Volume 87, Issue 6, pp. 1215 - 1233
Analysis of de novo CNVs (dnCNVs) from the full Simons Simplex Collection (SSC) (N = 2,591 families) replicates prior findings of strong association with... 
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Autism Spectrum Disorder - genetics | Protein Interaction Maps - genetics | Humans | Genetic Loci - genetics | Female | Male | Genetic Variation - genetics | Autism Spectrum Disorder - diagnosis | Architecture | Autism | Genomes | Mutation | Females | Genes | Siblings | Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 05/2016, Volume 48, Issue 5, pp. 552 - 555
Journal Article