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Material Type: Artigo
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Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in AutismParikshak, Neelroop N. ; Luo, Rui ; Zhang, Alice ; Won, Hyejung ; Lowe, Jennifer K. ; Chandran, Vijayendran ; Horvath, Steve ; Geschwind, Daniel H.Cell, 2013-11, Vol.155 (5), p.1008-1021 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Transcriptomic analysis of autistic brain reveals convergent molecular pathologyVOINEAGU, Irina ; XINCHEN WANG ; JOHNSTON, Patrick ; LOWE, Jennifer K ; YUAN TIAN ; HORVATH, Steve ; MILL, Jonathan ; CANTOR, Rita M ; BLENCOWE, Benjamin J ; GESCHWIND, Daniel HNature (London), 2011-05, Vol.474 (7351), p.380-384 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestationPolioudakis, Damon ; de la Torre-Ubieta, Luis ; Langerman, Justin ; Elkins, Andrew G. ; Shi, Xu ; Stein, Jason L. ; Vuong, Celine K. ; Nichterwitz, Susanne ; Gevorgian, Melinda ; Opland, Carli K. ; Lu, Daning ; Connell, William ; Ruzzo, Elizabeth K. ; Lowe, Jennifer K. ; Hadzic, Tarik ; Hinz, Flora I. ; Sabri, Shan ; Lowry, William E. ; Gerstein, Mark B. ; Plath, Kathrin ; Geschwind, Daniel H.Neuron (Cambridge, Mass.), 2019-09, Vol.103 (5), p.785-801.e8 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex FamiliesLeppa, Virpi M. ; Kravitz, Stephanie N. ; Martin, Christa Lese ; Andrieux, Joris ; Le Caignec, Cedric ; Martin-Coignard, Dominique ; DyBuncio, Christina ; Sanders, Stephan J. ; Lowe, Jennifer K. ; Cantor, Rita M. ; Geschwind, Daniel H.American journal of human genetics, 2016-09, Vol.99 (3), p.540-554 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A Quantitative Framework to Evaluate Modeling of Cortical Development by Neural Stem CellsStein, Jason L. ; de la Torre-Ubieta, Luis ; Tian, Yuan ; Parikshak, Neelroop N. ; Hernández, Israel A. ; Marchetto, Maria C. ; Baker, Dylan K. ; Lu, Daning ; Hinman, Cassidy R. ; Lowe, Jennifer K. ; Wexler, Eric M. ; Muotri, Alysson R. ; Gage, Fred H. ; Kosik, Kenneth S. ; Geschwind, Daniel H.Neuron (Cambridge, Mass.), 2014-07, Vol.83 (1), p.69-86 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonismPrusiner, Stanley B. ; Woerman, Amanda L. ; Mordes, Daniel A. ; Watts, Joel C. ; Rampersaud, Ryan ; Berry, David B. ; Patel, Smita ; Oehler, Abby ; Lowe, Jennifer K. ; Kravitz, Stephanie N. ; Geschwind, Daniel H. ; Glidden, David V. ; Halliday, Glenda M. ; Middleton, Lefkos T. ; Gentleman, Steve M. ; Grinberg, Lea T. ; Giles, KurtProceedings of the National Academy of Sciences - PNAS, 2015-09, Vol.112 (38), p.E5308-E5317 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Material Type: Artigo
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Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum DisordersLuo, Rui ; Sanders, Stephan J. ; Tian, Yuan ; Voineagu, Irina ; Huang, Ni ; Chu, Su H. ; Klei, Lambertus ; Cai, Chaochao ; Ou, Jing ; Lowe, Jennifer K. ; Hurles, Matthew E. ; Devlin, Bernie ; State, Matthew W. ; Geschwind, Daniel H.American journal of human genetics, 2012-07, Vol.91 (1), p.38-55 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Whole population, genome-wide mapping of hidden relatednessGusev, Alexander ; Lowe, Jennifer K ; Stoffel, Markus ; Daly, Mark J ; Altshuler, David ; Breslow, Jan L ; Friedman, Jeffrey M ; Pe'er, ItsikGenome Research, 2009-02, Vol.19 (2), p.318-326 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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Material Type: Artigo
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Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseasesChen, Jason A ; Chen, Zhongbo ; Won, Hyejung ; Huang, Alden Y ; Lowe, Jennifer K ; Wojta, Kevin ; Yokoyama, Jennifer S ; Bensimon, Gilbert ; Leigh, P Nigel ; Payan, Christine ; Shatunov, Aleksey ; Jones, Ashley R ; Lewis, Cathryn M ; Deloukas, Panagiotis ; Amouyel, Philippe ; Tzourio, Christophe ; Dartigues, Jean-Francois ; Ludolph, Albert ; Boxer, Adam L ; Bronstein, Jeff M ; Al-Chalabi, Ammar ; Geschwind, Daniel H ; Coppola, GiovanniMolecular neurodegeneration, 2018-08, Vol.13 (1), p.41-41, Article 41 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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DASH: A Method for Identical-by-Descent Haplotype Mapping Uncovers Association with Recent VariationGUSEV, Alexander ; KENNY, Eimear E ; LOWE, Jennifer K ; SALIT, Jaqueline ; SAXENA, Richa ; KATHIRESAN, Sekar ; ALTSHULER, David M ; FRIEDMAN, Jeffrey M ; BRESLOW, Jan L ; PE'ER, ItsikAmerican journal of human genetics, 2011-06, Vol.88 (6), p.706-717 [Periódico revisado por pares]Cambridge, MA: Cell PressTexto completo disponível |