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Material Type: Artigo
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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental DuplicationDennis, Megan Y. ; Nuttle, Xander ; Sudmant, Peter H. ; Antonacci, Francesca ; Graves, Tina A. ; Nefedov, Mikhail ; Rosenfeld, Jill A. ; Sajjadian, Saba ; Malig, Maika ; Kotkiewicz, Holland ; Curry, Cynthia J. ; Shafer, Susan ; Shaffer, Lisa G. ; de Jong, Pieter J. ; Wilson, Richard K. ; Eichler, Evan E.Cell, 2012-05, Vol.149 (4), p.912-922 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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A 25-year odyssey of genomic technology advances and structural variant discoveryPorubsky, David ; Eichler, Evan E.Cell, 2024-02, Vol.187 (5), p.1024-1037 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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3 |
Material Type: Artigo
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A Genotype-First Approach to Defining the Subtypes of a Complex DiseaseStessman, Holly A. ; Bernier, Raphael ; Eichler, Evan E.Cell, 2014-02, Vol.156 (5), p.872-877 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Characterizing the Major Structural Variant Alleles of the Human GenomeAudano, Peter A. ; Sulovari, Arvis ; Graves-Lindsay, Tina A. ; Cantsilieris, Stuart ; Sorensen, Melanie ; Welch, AnneMarie E. ; Dougherty, Max L. ; Nelson, Bradley J. ; Shah, Ankeeta ; Dutcher, Susan K. ; Warren, Wesley C. ; Magrini, Vincent ; McGrath, Sean D. ; Li, Yang I. ; Wilson, Richard K. ; Eichler, Evan E.Cell, 2019-01, Vol.176 (3), p.663-675.e19 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Genomic Patterns of De Novo Mutation in Simplex AutismTurner, Tychele N. ; Coe, Bradley P. ; Dickel, Diane E. ; Hoekzema, Kendra ; Nelson, Bradley J. ; Zody, Michael C. ; Kronenberg, Zev N. ; Hormozdiari, Fereydoun ; Raja, Archana ; Pennacchio, Len A. ; Darnell, Robert B. ; Eichler, Evan E.Cell, 2017-10, Vol.171 (3), p.710-722.e12 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Establishing Cerebral Organoids as Models of Human-Specific Brain EvolutionPollen, Alex A. ; Bhaduri, Aparna ; Andrews, Madeline G. ; Nowakowski, Tomasz J. ; Meyerson, Olivia S. ; Mostajo-Radji, Mohammed A. ; Di Lullo, Elizabeth ; Alvarado, Beatriz ; Bedolli, Melanie ; Dougherty, Max L. ; Fiddes, Ian T. ; Kronenberg, Zev N. ; Shuga, Joe ; Leyrat, Anne A. ; West, Jay A. ; Bershteyn, Marina ; Lowe, Craig B. ; Pavlovic, Bryan J. ; Salama, Sofie R. ; Haussler, David ; Eichler, Evan E. ; Kriegstein, Arnold R.Cell, 2019-02, Vol.176 (4), p.743-756.e17 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Epigenetic patterns in a complete human genomeGershman, Ariel ; Sauria, Michael E G ; Guitart, Xavi ; Vollger, Mitchell R ; Hook, Paul W ; Hoyt, Savannah J ; Jain, Miten ; Shumate, Alaina ; Razaghi, Roham ; Koren, Sergey ; Altemose, Nicolas ; Caldas, Gina V ; Logsdon, Glennis A ; Rhie, Arang ; Eichler, Evan E ; Schatz, Michael C ; O'Neill, Rachel J ; Phillippy, Adam M ; Miga, Karen H ; Timp, WinstonScience (American Association for the Advancement of Science), 2022-04, Vol.376 (6588), p.eabj5089-eabj5089 [Periódico revisado por pares]United States: The American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Disruptive CHD8 Mutations Define a Subtype of Autism Early in DevelopmentBernier, Raphael ; Golzio, Christelle ; Xiong, Bo ; Stessman, Holly A. ; Coe, Bradley P. ; Penn, Osnat ; Witherspoon, Kali ; Gerdts, Jennifer ; Baker, Carl ; Vulto-van Silfhout, Anneke T. ; Schuurs-Hoeijmakers, Janneke H. ; Fichera, Marco ; Bosco, Paolo ; Buono, Serafino ; Alberti, Antonino ; Failla, Pinella ; Peeters, Hilde ; Steyaert, Jean ; Vissers, Lisenka E.L.M. ; Francescatto, Ludmila ; Mefford, Heather C. ; Rosenfeld, Jill A. ; Bakken, Trygve ; O’Roak, Brian J. ; Pawlus, Matthew ; Moon, Randall ; Shendure, Jay ; Amaral, David G. ; Lein, Ed ; Rankin, Julia ; Romano, Corrado ; de Vries, Bert B.A. ; Katsanis, Nicholas ; Eichler, Evan E.Cell, 2014-07, Vol.158 (2), p.263-276 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsiesMefford, Heather C ; Muhle, Hiltrud ; Ostertag, Philipp ; von Spiczak, Sarah ; Buysse, Karen ; Baker, Carl ; Franke, Andre ; Malafosse, Alain ; Genton, Pierre ; Thomas, Pierre ; Gurnett, Christina A ; Schreiber, Stefan ; Bassuk, Alexander G ; Guipponi, Michel ; Stephani, Ulrich ; Helbig, Ingo ; Eichler, Evan E Frankel, Wayne N.PLoS genetics, 2010-05, Vol.6 (5), p.e1000962-e1000962 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Relative burden of large CNVs on a range of neurodevelopmental phenotypesGirirajan, Santhosh ; Brkanac, Zoran ; Coe, Bradley P ; Baker, Carl ; Vives, Laura ; Vu, Tiffany H ; Shafer, Neil ; Bernier, Raphael ; Ferrero, Giovanni B ; Silengo, Margherita ; Warren, Stephen T ; Moreno, Carlos S ; Fichera, Marco ; Romano, Corrado ; Raskind, Wendy H ; Eichler, Evan E Orr, Harry T.PLoS genetics, 2011-11, Vol.7 (11), p.e1002334 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |