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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?
A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
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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, Bernie

Biological psychiatry (1969), 2015-05, Vol.77 (9), p.775-784 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Lalani, Seema R. ; Zhang, Jing ; Schaaf, Christian P. ; Brown, Chester W. ; Magoulas, Pilar ; Tsai, Anne Chun-Hui ; El-Gharbawy, Areeg ; Wierenga, Klaas J. ; Bartholomew, Dennis ; Fong, Chin-To ; Barbaro-Dieber, Tina ; Kukolich, Mary K. ; Burrage, Lindsay C. ; Austin, Elise ; Keller, Kory ; Pastore, Matthew ; Fernandez, Fabio ; Lotze, Timothy ; Wilfong, Angus ; Purcarin, Gabriela ; Zhu, Wenmiao ; Craigen, William J. ; McGuire, Marianne ; Jain, Mahim ; Cooney, Erin ; Azamian, Mahshid ; Bainbridge, Matthew N. ; Muzny, Donna M. ; Boerwinkle, Eric ; Person, Richard E. ; Niu, Zhiyv ; Eng, Christine M. ; Lupski, James R. ; Gibbs, Richard A. ; Beaudet, Arthur L. ; Yang, Yaping ; Wang, Meng C. ; Xia, Fan

American journal of human genetics, 2014-11, Vol.95 (5), p.579-583 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

Sanders, Stephan J. ; He, Xin ; Willsey, A. Jeremy ; Ercan-Sencicek, A. Gulhan ; Samocha, Kaitlin E. ; Cicek, A. Ercument ; Murtha, Michael T. ; Bal, Vanessa H. ; Bishop, Somer L. ; Dong, Shan ; Goldberg, Arthur P. ; Jinlu, Cai ; Keaney, John F. ; Klei, Lambertus ; Mandell, Jeffrey D. ; Moreno-De-Luca, Daniel ; Poultney, Christopher S. ; Robinson, Elise B. ; Smith, Louw ; Solli-Nowlan, Tor ; Su, Mack Y. ; Teran, Nicole A. ; Walker, Michael F. ; Werling, Donna M. ; Beaudet, Arthur L. ; Cantor, Rita M. ; Fombonne, Eric ; Geschwind, Daniel H. ; Grice, Dorothy E. ; Lord, Catherine ; Lowe, Jennifer K. ; Mane, Shrikant M. ; Martin, Donna M. ; Morrow, Eric M. ; Talkowski, Michael E. ; Sutcliffe, James S. ; Walsh, Christopher A. ; Yu, Timothy W. ; Ledbetter, David H. ; Martin, Christa Lese ; Cook, Edwin H. ; Buxbaum, Joseph D. ; Daly, Mark J. ; Devlin, Bernie ; Roeder, Kathryn ; State, Matthew W.

Neuron (Cambridge, Mass.), 2015-09, Vol.87 (6), p.1215-1233 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Integrative analysis of 111 reference human epigenomes
Integrative analysis of 111 reference human epigenomes
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Integrative analysis of 111 reference human epigenomes

Kundaje, Anshul ; Meuleman, Wouter ; Ernst, Jason ; Bilenky, Misha ; Yen, Angela ; Heravi-Moussavi, Alireza ; Kheradpour, Pouya ; Zhang, Zhizhuo ; Wang, Jianrong ; Ziller, Michael J ; Amin, Viren ; Whitaker, John W ; Schultz, Matthew D ; Ward, Lucas D ; Sarkar, Abhishek ; Quon, Gerald ; Sandstrom, Richard S ; Eaton, Matthew L ; Wu, Yi-Chieh ; Pfenning, Andreas R ; Wang, Xinchen ; Claussnitzer, Melina ; Liu, Yaping ; Coarfa, Cristian ; Harris, R Alan ; Shoresh, Noam ; Epstein, Charles B ; Gjoneska, Elizabeta ; Leung, Danny ; Xie, Wei ; Hawkins, R David ; Lister, Ryan ; Hong, Chibo ; Gascard, Philippe ; Mungall, Andrew J ; Moore, Richard ; Chuah, Eric ; Tam, Angela ; Canfield, Theresa K ; Hansen, R Scott ; Kaul, Rajinder ; Sabo, Peter J ; Bansal, Mukul S ; Carles, Annaick ; Dixon, Jesse R ; Farh, Kai-How ; Feizi, Soheil ; Karlic, Rosa ; Kim, Ah-Ram ; Kulkarni, Ashwinikumar ; Li, Daofeng ; Lowdon, Rebecca ; Elliott, GiNell ; Mercer, Tim R ; Neph, Shane J ; Onuchic, Vitor ; Polak, Paz ; Rajagopal, Nisha ; Ray, Pradipta ; Sallari, Richard C ; Siebenthall, Kyle T ; Sinnott-Armstrong, Nicholas A ; Stevens, Michael ; Thurman, Robert E ; Wu, Jie ; Zhang, Bo ; Zhou, Xin ; Beaudet, Arthur E ; Boyer, Laurie A ; De Jager, Philip L ; Farnham, Peggy J ; Fisher, Susan J ; Haussler, David ; Jones, Steven J M ; Li, Wei ; Marra, Marco A ; McManus, Michael T ; Sunyaev, Shamil ; Thomson, James A ; Tlsty, Thea D ; Tsai, Li-Huei ; Wang, Wei ; Waterland, Robert A ; Zhang, Michael Q ; Chadwick, Lisa H ; Bernstein, Bradley E ; Costello, Joseph F ; Ecker, Joseph R ; Hirst, Martin ; Meissner, Alexander ; Milosavljevic, Aleksandar ; Ren, Bing ; Stamatoyannopoulos, John A ; Wang, Ting ; Kellis, Manolis

Nature (London), 2015-02, Vol.518 (7539), p.317-330 [Periódico revisado por pares]

England: Nature Publishing Group

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5
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
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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 TMLHE

Celestino-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 L

Human molecular genetics, 2011-11, Vol.20 (22), p.4360-4370 [Periódico revisado por pares]

Oxford: Oxford University Press

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6
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2
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Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2

Chaste, 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-Jeong

Autism research, 2014-06, Vol.7 (3), p.355-362 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism
Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism
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Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism

Gamsiz, 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 Inc

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8
common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
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common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, Patrícia B. S ; Violante, Sara ; Crawford, Emily L ; Luo, Rui ; Lionel, Anath C ; Delaby, Elsa ; Cai, Guiqing ; Sadikovic, Bekim ; Lee, Kwanghyuk ; Lo, Charlene ; Gao, Kun ; Person, Richard E ; Moss, Timothy J ; German, Jennifer R ; Huang, Ni ; Shinawi, Marwan ; Treadwell-Deering, Diane ; Szatmari, Peter ; Roberts, Wendy ; Fernandez, Bridget ; Schroer, Richard J ; Stevenson, Roger E ; Buxbaum, Joseph D ; Betancur, Catalina ; Scherer, Stephen W ; Sanders, Stephan J ; Geschwind, Daniel H ; Sutcliffe, James S ; Hurles, Matthew E ; Wanders, Ronald J. A ; Shaw, Chad A ; Leal, Suzanne M ; Cook, Edwin H. Jr ; Goin-Kochel, Robin P ; Vaz, Frédéric M ; Beaudet, Arthur L

Proceedings of the National Academy of Sciences - PNAS, 2012-05, Vol.109 (21), p.7974-7981 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Centers for Mendelian Genomics: A decade of facilitating gene discovery
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Centers for Mendelian Genomics: A decade of facilitating gene discovery

Lake, Nicole J. ; Sobreira, Nara ; Chong, Jessica X. ; Chadwick, Lisa H. ; Coban-Akdemir, Zeynep H. ; Doheny, Kimberly F. ; Lek, Monkol ; Jhangiani, Shalini N. ; Lifton, Richard P. ; Matise, Tara C. ; Lupski, James R. ; Valle, David ; Nickerson, Deborah A. ; Akay, Gulsen ; Antonescu, Corina ; Austin-Tse, Christina A. ; Bacus, Tamara J. ; Bahrambeigi, Vahid ; Belmont, John W. ; Below, Jennifer E. ; Bilguvar, Kaya ; Boehm, Corinne D. ; Boone, Philip M. ; Calame, Daniel ; Cao, Xiaolong ; Carvalho, Claudia ; Chander, Varuna ; Clarke, Declan ; Delano, Kayla ; Doddapaneni, Harshavardhan ; Du, Renqian ; Fatih, Jawid ; Francioli, Laurent C. ; Fu, Jack ; Gambin, Tomasz ; Gandhi, Mira ; Ganesh, Vijay S. ; Garimella, Kiran V. ; Gauthier, Laura D. ; Gonzaga-Jauregui, Claudia ; Grochowski, Christopher M. ; Gu, Shen ; Hansen, Adam ; Harmanci, Arif O. ; Huang, Yongqing ; Johanson, Eric ; Karaca, Ender ; Kumar, Sushant ; Laricchia, Kristen M. ; Ling, Hua ; Lipson, Rachel B. ; MacMillan, Melissa P. ; Marshall, Jamie L. ; Martin, Renan ; McGee, Sean ; Mekonnen, Betselote ; Mullen, Thomas E. ; Murugan, Mullai ; Muzny, Donna M. ; Myers, Ben ; Neira, Juanita ; Nielsen, Patrick M. ; Nudelman, Natalie ; O’Leary, Melanie C. ; Pais, Lynn S. ; Patterson, Karynne ; Pehlivan, Davut ; Penney, Samantha ; Pierce-Hoffman, Emma ; Radhakrishnan, Aparna ; Richardson, Matthew A. ; Roote, Gwendolin T. ; Sabo, Aniko ; Scott, Daryl A. ; Shaw, Chad A. ; Shelford, Tameka ; Shively, Kathryn M. ; Snow, Hana ; Solomonson, Matthew ; Song, Xiaofei ; Stephan, Taylorlyn ; Sutton, V. Reid ; Sveden, Abigail ; Valivullah, Zaheer ; Wang, Lu ; Wangler, Michael F. ; Watts, Nicholas A. ; Wilson, Michael W. ; Wiszniewski, Wojciech ; Witmer, Dane ; Witzgall, Lauren ; Wohler, Elizabeth ; Wu, Nan ; Yi, Qian ; Zeiger, Jordan E. ; Zhang, Chaofan ; Zhang, Yeting ; Zoghbi, Huda ; van den Veyver, Igna ; O’Donnell-Luria, Anne

Genetics in medicine, 2022-04, Vol.24 (4), p.784-797 [Periódico revisado por pares]

United States: Elsevier Inc

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10
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
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TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities

Wiszniewski, Wojciech ; Hunter, Jill V. ; Hanchard, Neil A. ; Willer, Jason R. ; Shaw, Chad ; Tian, Qi ; Illner, Anna ; Wang, Xueqing ; Cheung, Sau W. ; Patel, Ankita ; Campbell, Ian M. ; Gelowani, Violet ; Hixson, Patricia ; Ester, Audrey R. ; Azamian, Mahshid S. ; Potocki, Lorraine ; Zapata, Gladys ; Hernandez, Patricia P. ; Ramocki, Melissa B. ; Santos-Cortez, Regie L.P. ; Wang, Gao ; York, Michele K. ; Justice, Monica J. ; Chu, Zili D. ; Bader, Patricia I. ; Omo-Griffith, Lisa ; Madduri, Nirupama S. ; Scharer, Gunter ; Crawford, Heather P. ; Yanatatsaneejit, Pattamawadee ; Eifert, Anna ; Kerr, Jeffery ; Bacino, Carlos A. ; Franklin, Adiaha I.A. ; Goin-Kochel, Robin P. ; Simpson, Gayle ; Immken, Ladonna ; Haque, Muhammad E. ; Stosic, Marija ; Williams, Misti D. ; Morgan, Thomas M. ; Pruthi, Sumit ; Omary, Reed ; Boyadjiev, Simeon A. ; Win, Kay K. ; Thida, Aye ; Hurles, Matthew ; Hibberd, Martin Lloyd ; Khor, Chiea Chuen ; Van Vinh Chau, Nguyen ; Gallagher, Thomas E. ; Mutirangura, Apiwat ; Stankiewicz, Pawel ; Beaudet, Arthur L. ; Maletic-Savatic, Mirjana ; Rosenfeld, Jill A. ; Shaffer, Lisa G. ; Davis, Erica E. ; Belmont, John W. ; Dunstan, Sarah ; Simmons, Cameron P. ; Bonnen, Penelope E. ; Leal, Suzanne M. ; Katsanis, Nicholas ; Lupski, James R. ; Lalani, Seema R.

American journal of human genetics, 2013-08, Vol.93 (2), p.197-210 [Periódico revisado por pares]

United States: Elsevier Inc

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