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Material Type: Artigo
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A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?Chaste, Pauline ; Klei, Lambertus ; Sanders, Stephan J ; Hus, Vanessa ; Murtha, Michael T ; Lowe, Jennifer K ; Willsey, A. Jeremy ; Moreno-De-Luca, Daniel ; Yu, Timothy W ; Fombonne, Eric ; Geschwind, Daniel ; Grice, Dorothy E ; Ledbetter, David H ; Mane, Shrikant M ; Martin, Donna M ; Morrow, Eric M ; Walsh, Christopher A ; Sutcliffe, James S ; Lese Martin, Christa ; Beaudet, Arthur L ; Lord, Catherine ; State, Matthew W ; Cook, Edwin H ; Devlin, BernieBiological psychiatry (1969), 2015-05, Vol.77 (9), p.775-784 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2Chaste, Pauline ; Sanders, Stephan J. ; Mohan, Kommu N. ; Klei, Lambertus ; Song, Youeun ; Murtha, Michael T. ; Hus, Vanessa ; Lowe, Jennifer K. ; Willsey, A. Jeremy ; Moreno-De-Luca, Daniel ; Yu, Timothy W. ; Fombonne, Eric ; Geschwind, Daniel ; Grice, Dorothy E. ; Ledbetter, David H. ; Lord, Catherine ; Mane, Shrikant M. ; Martin, Donna M. ; Morrow, Eric M. ; Walsh, Christopher A. ; Sutcliffe, James S. ; State, Matthew W. ; Martin, Christa Lese ; Devlin, Bernie ; Beaudet, Arthur L. ; Cook Jr, Edwin H. ; Kim, Soo-JeongAutism research, 2014-06, Vol.7 (3), p.355-362 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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A genomewide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Chaste, Pauline ; Klei, Lambertus ; Sanders, Stephan J. ; Hus, Vanessa ; Murtha, Michael T. ; Lowe, Jennifer K. ; Willsey, A. Jeremy ; Moreno-De-Luca, Daniel ; Yu, Timothy W. ; Fombonne, Eric ; Geschwind, Daniel ; Grice, Dorothy E. ; Ledbetter, David H. ; Mane, Shrikant M. ; Martin, Donna M. ; Morrow, Eric M. ; Walsh, Christopher A. ; Sutcliffe, James S. ; Martin, Christa Lese ; Beaudet, Arthur L. ; Lord, Catherine ; State, Matthew W. ; Cook, Edwin H. ; Devlin, BernieBiological psychiatry (1969), 2014-09, Vol.77 (9), p.775-784 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15 q 11.2, Specifically Breakpoints 1 to 2Chaste, Pauline ; Sanders, Stephan J. ; Mohan, Kommu N. ; Klei, Lambertus ; Song, Youeun ; Murtha, Michael T. ; Hus, Vanessa ; Lowe, Jennifer K. ; Willsey, A. Jeremy ; Moreno‐De‐Luca, Daniel ; Yu, Timothy W. ; Fombonne, Eric ; Geschwind, Daniel ; Grice, Dorothy E. ; Ledbetter, David H. ; Lord, Catherine ; Mane, Shrikant M. ; Martin, Donna M. ; Morrow, Eric M. ; Walsh, Christopher A. ; Sutcliffe, James S. ; State, Matthew W. ; Martin, Christa Lese ; Devlin, Bernie ; Beaudet, Arthur L. ; Cook, Edwin H. ; Kim, Soo‐JeongAutism research, 2014-06, Vol.7 (3), p.355-362 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autismSanders, Stephan J. ; Ercan-Sencicek, A. Gulhan ; Hus, Vanessa ; Luo, Rui ; Murtha, Michael T. ; Moreno-De-Luca, Daniel ; Chu, Su H. ; Moreau, Michael P. ; Gupta, Abha R. ; Thomson, Susanne A. ; Mason, Christopher E. ; Bilguvar, Kaya ; Celestino-Soper, Patricia B. S. ; Choi, Murim ; Crawford, Emily L. ; Davis, Lea ; Wright, Nicole R. Davis ; Dhodapkar, Rahul M. ; DiCola, Michael ; DiLullo, Nicholas M. ; Fernandez, Thomas V. ; Fielding-Singh, Vikram ; Fishman, Daniel O. ; Frahm, Stephanie ; Garagaloyan, Rouben ; Goh, Gerald S. ; Kammela, Sindhuja ; Klei, Lambertus ; Lowe, Jennifer K. ; Lund, Sabata C. ; McGrew, Anna D. ; Meyer, Kyle A. ; Moffat, William J. ; Murdoch, John D. ; O'Roak, Brian J. ; Ober, Gordon T. ; Pottenger, Rebecca S. ; Raubeson, Melanie J. ; Song, Youeun ; Wang, Qi ; Yaspan, Brian L. ; Yu, Timothy W. ; Yurkiewicz, Ilana R. ; Beaudet, Arthur L. ; Cantor, Rita M. ; Curland, Martin ; Grice, Dorothy E. ; Günel, Murat ; Lifton, Richard P. ; Mane, Shrikant M. ; Martin, Donna M. ; Shaw, Chad A. ; Sheldon, Michael ; Tischfield, Jay A. ; Walsh, Christopher A. ; Morrow, Eric M. ; Ledbetter, David H. ; Fombonne, Eric ; Lord, Catherine ; Martin, Christa Lese ; Brooks, Andrew I. ; Sutcliffe, James S. ; Cook, Edwin H. ; Geschwind, Daniel ; Roeder, Kathryn ; Devlin, Bernie ; State, Matthew W.Neuron (Cambridge, Mass.), 2011-06, Vol.70 (5), p.863-885 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Chaste, Pauline ; Klei, Lambertus ; Sanders, Stephan J ; Hus, Vanessa ; Murtha, Michael T ; Lowe, Jennifer K ; Willsey, A Jeremy ; Moreno-De-Luca, Daniel ; Yu, Timothy W ; Fombonne, Eric ; Geschwind, Daniel ; Grice, Dorothy E ; Ledbetter, David H ; Mane, Shrikant M ; Martin, Donna M ; Morrow, Eric M ; Walsh, Christopher A ; Sutcliffe, James S ; Lese Martin, Christa ; Beaudet, Arthur L ; Lord, Catherine ; State, Matthew W ; Cook, Edwin H ; Devlin, BernieBiological psychiatry, 2015-05, Vol.77 (9), p.775-784eScholarship, University of CaliforniaSem texto completo |
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Material Type: Artigo
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Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2Chaste, Pauline ; Sanders, Stephan J ; Mohan, Kommu N ; Klei, Lambertus ; Song, Youeun ; Murtha, Michael T ; Hus, Vanessa ; Lowe, Jennifer K ; Willsey, A Jeremy ; Moreno-De-Luca, Daniel ; Yu, Timothy W ; Fombonne, Eric ; Geschwind, Daniel ; Grice, Dorothy E ; Ledbetter, David H ; Lord, Catherine ; Mane, Shrikant M ; Martin, Donna M ; Morrow, Eric M ; Walsh, Christopher A ; Sutcliffe, James S ; State, Matthew W ; Martin, Christa Lese ; Devlin, Bernie ; Beaudet, Arthur L ; Cook, Edwin H ; Kim, Soo-JeongAutism research : official journal of the International Society for Autism Research, 2014-06, Vol.7 (3), p.355-362eScholarship, University of CaliforniaSem texto completo |