Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of AutismWillsey, A. Jeremy ; Sanders, Stephan J. ; Li, Mingfeng ; Dong, Shan ; Tebbenkamp, Andrew T. ; Muhle, Rebecca A. ; Reilly, Steven K. ; Lin, Leon ; Fertuzinhos, Sofia ; Miller, Jeremy A. ; Murtha, Michael T. ; Bichsel, Candace ; Niu, Wei ; Cotney, Justin ; Ercan-Sencicek, A. Gulhan ; Gockley, Jake ; Gupta, Abha R. ; Han, Wenqi ; He, Xin ; Hoffman, Ellen J. ; Klei, Lambertus ; Lei, Jing ; Liu, Wenzhong ; Liu, Li ; Lu, Cong ; Xu, Xuming ; Zhu, Ying ; Mane, Shrikant M. ; Lein, Ed S. ; Wei, Liping ; Noonan, James P. ; Roeder, Kathryn ; Devlin, Bernie ; Sestan, Nenad ; State, Matthew W.Cell, 2013-11, Vol.155 (5), p.997-1007 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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2 |
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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3 |
Material Type: Artigo
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Common genetic variants, acting additively, are a major source of risk for autismKlei, Lambertus ; Sanders, Stephan J ; 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, Christa Lese ; Martin, Donna M ; Morrow, Eric M ; Walsh, Christopher A ; Melhem, Nadine M ; Chaste, Pauline ; Sutcliffe, James S ; State, Matthew W ; Cook, Jr, Edwin H ; Roeder, Kathryn ; Devlin, BernieMolecular autism, 2012-10, Vol.3 (1), p.9-9, Article 9 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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4 |
Material Type: Artigo
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Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex AutismGamsiz, Ece D. ; Viscidi, Emma W. ; Frederick, Abbie M. ; Nagpal, Shailender ; Sanders, Stephan J. ; Murtha, Michael T. ; Schmidt, Michael ; Triche, Elizabeth W. ; Geschwind, Daniel H. ; State, Matthew W. ; Istrail, Sorin ; Cook, Edwin H. ; Devlin, Bernie ; Morrow, Eric M.American journal of human genetics, 2013-07, Vol.93 (1), p.103-109 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or ContactinsMurdoch, John D ; Gupta, Abha R ; Sanders, Stephan J ; Walker, Michael F ; Keaney, John ; Fernandez, Thomas V ; Murtha, Michael T ; Anyanwu, Samuel ; Ober, Gordon T ; Raubeson, Melanie J ; DiLullo, Nicholas M ; Villa, Natalie ; Waqar, Zainabdul ; Sullivan, Catherine ; Gonzalez, Luis ; Willsey, A Jeremy ; Choe, So-Yeon ; Neale, Benjamin M ; Daly, Mark J ; State, Matthew W Flint, JonathanPLoS genetics, 2015-01, Vol.11 (1), p.e1004852 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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6 |
Material Type: Artigo
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Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHECelestino-Soper, Patricia B.S ; Shaw, Chad A ; Sanders, Stephan J ; Li, Jian ; Murtha, Michael T ; Ercan-Sencicek, A. Gulhan ; Davis, Lea ; Thomson, Susanne ; Gambin, Tomasz ; Chinault, A. Craig ; Ou, Zhishuo ; German, Jennifer R ; Milosavljevic, Aleksandar ; Sutcliffe, James S ; Cook, Edwin H ; Stankiewicz, Pawel ; State, Matthew W ; Beaudet, Arthur LHuman molecular genetics, 2011-11, Vol.20 (22), p.4360-4370 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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7 |
Material Type: Artigo
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De novo mutations revealed by whole-exome sequencing are strongly associated with autismSANDERS, Stephan J ; MURTHA, Michael T ; WALKER, Michael F ; OBER, Gordon T ; TERAN, Nicole A ; SONG, Youeun ; EL-FISHAWY, Paul ; MURTHA, Ryan C ; CHOI, Murim ; OVERTON, John D ; BJORNSON, Robert D ; CARRIERO, Nicholas J ; GUPTA, Abha R ; MEYER, Kyle A ; BILGUVAR, Kaya ; MANE, Shrikant M ; SESTAN, Nenad ; LIFTON, Richard P ; GIINEL, Murat ; ROEDER, Kathryn ; GESCHWIND, Daniel H ; DEVNN, Bernie ; STATE, Matthew W ; MURDOCH, John D ; RAUBESON, Melanie J ; WILLSEY, A. Jeremy ; ERCAN-SENCICEK, A. Gulhan ; DILULLO, Nicholas M ; PARIKSHAK, Neelroop N ; STEIN, Jason LNature (London), 2012-05, Vol.485 (7397), p.237-241 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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8 |
Material Type: Artigo
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The contribution of de novo coding mutations to autism spectrum disorderIossifov, Ivan ; O'Roak, Brian J ; Sanders, Stephan J ; Ronemus, Michael ; Krumm, Niklas ; Levy, Dan ; Stessman, Holly A ; Witherspoon, Kali T ; Vives, Laura ; Patterson, Karynne E ; Smith, Joshua D ; Paeper, Bryan ; Nickerson, Deborah A ; Dea, Jeanselle ; Dong, Shan ; Gonzalez, Luis E ; Mandell, Jeffrey D ; Mane, Shrikant M ; Murtha, Michael T ; Sullivan, Catherine A ; Walker, Michael F ; Waqar, Zainulabedin ; Wei, Liping ; Willsey, A Jeremy ; Yamrom, Boris ; Lee, Yoon-ha ; Grabowska, Ewa ; Dalkic, Ertugrul ; Wang, Zihua ; Marks, Steven ; Andrews, Peter ; Leotta, Anthony ; Kendall, Jude ; Hakker, Inessa ; Rosenbaum, Julie ; Ma, Beicong ; Rodgers, Linda ; Troge, Jennifer ; Narzisi, Giuseppe ; Yoon, Seungtai ; Schatz, Michael C ; Ye, Kenny ; McCombie, W Richard ; Shendure, Jay ; Eichler, Evan E ; State, Matthew W ; Wigler, MichaelNature (London), 2014-11, Vol.515 (7526), p.216-221 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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9 |
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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10 |
Material Type: Artigo
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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams 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 ; Davis Wright, Nicole R. ; 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]United States: Elsevier IncTexto completo disponível |