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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 (London), ISSN 0028-0836, 04/2012, Volume 485, Issue 7397, pp. 242 - 245
Journal Article
Science (American Association for the Advancement of Science), ISSN 1095-9203, 12/2015, Volume 350, Issue 6265, pp. 1262 - 1266
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 0027-8424, 10/2014, Volume 111, Issue 42, pp. 15161 - 15165
Journal Article
by Dickinson, Mary E and Flenniken, Ann M and Ji, Xiao and Teboul, Lydia and Wong, Michael D and White, Jacqueline K and Meehan, Terrence F and Weninger, Wolfgang J and Westerberg, Henrik and Adissu, Hibret and Baker, Candice N and Bower, Lynette and Brown, James M and Caddle, L. Brianna and Chiani, Francesco and Clary, Dave and Cleak, James and Daly, Mark J and Denegre, James M and Doe, Brendan and Dolan, Mary E and Edie, Sarah M and Fuchs, Helmut and Gailus-Durner, Valerie and Galli, Antonella and Gambadoro, Alessia and Gallegos, Juan and Guo, Shiying and Horner, Neil R and Hsu, Chih-Wei and Johnson, Sara J and Kalaga, Sowmya and Keith, Lance C and Lanoue, Louise and Lawson, Thomas N and Lek, Monkol and Mark, Manuel and Marschall, Susan and Mason, Jeremy and McElwee, Melissa L and Newbigging, Susan and Nutter, Lauryl M. J and Peterson, Kevin A and Ramirez-Solis, Ramiro and Rowland, Douglas J and Ryder, Edward and Samocha, Kaitlin E and Seavitt, John R and Selloum, Mohammed and Szoke-Kovacs, Zsombor and Tamura, Masaru and Trainor, Amanda G and Tudose, Ilinca and Wakana, Shigeharu and Warren, Jonathan and Wendling, Olivia and West, David B and Wong, Leeyean and Yoshiki, Atsushi and Wurst, Wolfgang and MacArthur, Daniel G and Tocchini-Valentini, Glauco P and Gao, Xiang and Flicek, Paul and Bradley, Allan and Skarnes, William C and Justice, Monica J and Parkinson, Helen E and Moore, Mark and Wells, Sara and Braun, Robert E and Svenson, Karen L and de Angelis, Martin Hrabe and Herault, Yann and Mohun, Tim and Mallon, Ann-Marie and Henkelman, R. Mark and Brown, Steve D. M and Adams, David J and Lloyd, K. C. Kent and McKerlie, Colin and Beaudet, Arthur L and Bućan, Maja and Murray, Stephen A and The International Mouse Phenotyping Consortium and Int Mouse Phenotyping Consortium
Nature (London), ISSN 1476-4687, 09/2016, Volume 537, Issue 7621, pp. 508 - 514
...Author(s): Mary E. Dickinson [1]; Ann M. Flenniken [2, 3]; Xiao Ji [4]; Lydia Teboul [5]; Michael D. Wong [2, 6]; Jacqueline K. White [7]; Terrence F. Meehan... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic research | Phenotype | Research | High-throughput screening (Biochemical assaying) | Methods | Genotype & phenotype | Disease | Developmental biology | Genes | Genomes | Mutation | Embryos | Index Medicus | knockout | embryonic lethal | mouse | KOMP | IMPC | EUCOMM
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 01/2014, Volume 111, Issue 4, pp. E455 - E464
Genetic studies have revealed thousands of loci predisposing to hundreds of human diseases and traits, revealing important biological pathways and defining... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Genetic Variation | Genetic Predisposition to Disease | Genome-Wide Association Study | Mutation | Gene Frequency | Humans | Genetics | Hypotheses | Genes | Analysis | Index Medicus | Biological Sciences | statistical genetics | PNAS Plus | mapping disease genes | power analysis
Journal Article
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