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

Por 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.
Publicado em 2013

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

Por 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.
Publicado em 2011

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 Contacti...

Por Murdoch, 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.
Publicado no PLoS Genet (2015)

Common genetic variants, acting additively, are a major source of risk for autism

Por Klei Lambertus, Sanders Stephan J, Murtha Michael T, Hus Vanessa, Lowe Jennifer K, Willsey A, Moreno-De-Luca Daniel, Yu Timothy W, Fombonne Eric, Geschwind Daniel, Grice Dorothy E, Ledbetter David H, Lord Catherine, Mane Shrikant M, Martin Christa, Martin Donna M, Morrow Eric M, Walsh Christopher A, Melhem Nadine M, Chaste Pauline, Sutcliffe James S, State Matthew W, Cook Edwin H, Roeder Kathryn, Devlin Bernie
Publicado em 2012-10-01

Common genetic variants, acting additively, are a major source of risk for autism

Por Klei, 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, Edwin H, Roeder, Kathryn, Devlin, Bernie
Publicado em 2012

Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait

Por Chaste, Pauline, Klei, 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., Sutcliffe, James S., State, Matthew W., Devlin, Bernie, Cook, Edwin H., Kim, Soo-Jeong
Publicado em 2013

A genomewide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?

Por 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, Bernie
Publicado no Biol Psychiatry (2014)

De novo mutations revealed by whole exome sequencing are strongly associated with autism

Por Sanders, Stephan J., Murtha, Michael T., Gupta, Abha R., Murdoch, John D., Raubeson, Melanie J., Willsey, A. Jeremy, Ercan-Sencicek, A. Gulhan, DiLullo, Nicholas M., Parikshak, Neelroop N., Stein, Jason L., 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., Meyer, Kyle A., Bilguvar, Kaya, Mane, Shrikant M., Šestan, Nenad, Lifton, Richard P., Günel, Murat, Roeder, Kathryn, Geschwind, Daniel H., Devlin, Bernie, State, Matthew W.
Publicado em 2012

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

Por Willsey, 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, Han, Wenqi, He, Xin, Hoffman, Ellen, Klei, Lambertus, Lei, Jing, Liu, Wenzhong, Liu, Li, Lu, Cong, Xu, Xuming, Zhu, Ying, Mane, Shrikant M., Lein, Edward S., Wei, Liping, Noonan, James P., Roeder, Kathryn, Devlin, Bernie, Šestan, Nenad, State, Matthew W.
Publicado em 2013

The contribution of de novo coding mutations to autism spectrum disorder

Por Iossifov, Ivan, O’Roak, Brian J., Sanders, Stephan J., Ronemus, Michael, Krumm, Niklas, Levy, Dan, Stessman, Holly A., Witherspoon, Kali, Vives, Laura, Patterson, Karynne E., Smith, Joshua D., Paeper, Bryan, Nickerson, Deborah A., Dea, Jeanselle, Dong, Shan, Gonzalez, Luis E., Mandell, Jefferey 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, Michael
Publicado no Nature (2014)

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

Por 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.
Publicado no Neuron (2015)

Genome-wide association defines more than thirty distinct susceptibility loci for Crohn's disease

Por Barrett, Jeffrey C., Hansoul, Sarah, Nicolae, Dan L., Cho, Judy H., Duerr, Richard H., Rioux, John D., Brant, Steven R., Silverberg, Mark S., Taylor, Kent D., Barmada, M. Michael, Bitton, Alain, Dassopoulos, Themistocles, Datta, Lisa Wu, Green, Todd, Griffiths, Anne M., Kistner, Emily O., Murtha, Michael T., Regueiro, Miguel D., Rotter, Jerome I., Schumm, L. Philip, Steinhart, A. Hillary, Targan, Stephan R., Xavier, Ramnik J., Libioulle, Cécile, Sandor, Cynthia, Lathrop, Mark, Belaiche, Jacques, Dewit, Olivier, Gut, Ivo, Heath, Simon, Laukens, Debby, Mni, Myriam, Rutgeerts, Paul, Van Gossum, André, Zelenika, Diana, Franchimont, Denis, Hugot, JP, de Vos, Martine, Vermeire, Severine, Louis, Edouard, Cardon, Lon R., Anderson, Carl A., Drummond, Hazel, Nimmo, Elaine, Ahmad, Tariq, Prescott, Natalie J, Onnie, Clive M., Fisher, Sheila A., Marchini, Jonathan, Ghori, Jilur, Bumpstead, Suzannah, Gwillam, Rhian, Tremelling, Mark, Deloukas, Panos, Mansfield, John, Jewell, Derek, Satsangi, Jack, Mathew, Christopher G., Parkes, Miles, Georges, Michel, Daly, Mark J.
Publicado em 2008

Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism

Por Sanders, 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.
Publicado em 2011