Autism Spectrum Disorders: From Genes to Neurobiology

Por Willsey, A. Jeremy, State, Matthew W.
Publicado no Curr Opin Neurobiol (2014)

The Developmental Transcriptome of the Human Brain: Implications for Neurodevelopmental Disorders

Por Tebbenkamp, Andrew T. N., Willsey, A. Jeremy, State, Matthew W., Šestan, Nenad
Publicado em 2014

The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery

Por Georgitsi, Marianthi, Willsey, A. Jeremy, Mathews, Carol A., State, Matthew, Scharf, Jeremiah M., Paschou, Peristera
Publicado no Front Neurosci (2016)

The female protective effect in autism spectrum disorder is not mediated by a single genetic locus

Por Gockley, Jake, Willsey, A Jeremy, Dong, Shan, Dougherty, Joseph D, Constantino, John N, Sanders, Stephan J
Publicado no Mol Autism (2015)

Localized JNK signaling regulates organ size during development

Por Willsey, Helen Rankin, Zheng, Xiaoyan, Carlos Pastor-Pareja, José, Willsey, A Jeremy, Beachy, Philip A, Xu, Tian
Publicado no eLife (2016)

Identification of Developmental and Behavioral Markers Associated with Genetic Abnormalities in Autism Spectrum Disorder

Por Bishop, Somer L., Farmer, Cristan, Bal, Vanessa, Robinson, Elise, Willsey, A. Jeremy, Werling, Donna M., Havdahl, Karoline Alexandra, Sanders, Stephan J., Thurm, Audrey
Publicado no Am J Psychiatry (2017)

Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation

Por Watson, Corey T., Steinberg, Karyn M., Huddleston, John, Warren, Rene L., Malig, Maika, Schein, Jacqueline, Willsey, A. Jeremy, Joy, Jeffrey B., Scott, Jamie K., Graves, Tina A., Wilson, Richard K., Holt, Robert A., Eichler, Evan E., Breden, Felix
Publicado em 2013

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

Por Cotney, Justin, Muhle, Rebecca A., Sanders, Stephan J., Liu, Li, Willsey, A. Jeremy, Niu, Wei, Liu, Wenzhong, Klei, Lambertus, Lei, Jing, Yin, Jun, Reilly, Steven K., Tebbenkamp, Andrew T., Bichsel, Candace, Pletikos, Mihovil, Sestan, Nenad, Roeder, Kathryn, State, Matthew W., Devlin, Bernie, Noonan, James P.
Publicado no Nat Commun (2015)

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)

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Por Willsey, A. Jeremy, Fernandez, Thomas V., Yu, Dongmei, King, Robert A., Dietrich, Andrea, Xing, Jinchuan, Sanders, Stephan J., Mandell, Jeffrey D., Huang, Alden Y., Richer, Petra, Smith, Louw, Dong, Shan, Samocha, Kaitlin E., Neale, Benjamin M., Coppola, Giovanni, Mathews, Carol A., Tischfield, Jay A., Scharf, Jeremiah M., State, Matthew W., Heiman, Gary A.
Publicado no Neuron (2017)

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)

Increased Frequency of De Novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data

Por Glessner, Joseph T., Bick, Alexander G., Ito, Kaoru, Homsy, Jason, Rodriguez-Murillo, Laura, Fromer, Menachem, Mazaika, Erica, Vardarajan, Badri, Italia, Michael, Leipzig, Jeremy, DePalma, Steven R., Golhar, Ryan, Sanders, Stephan J., Yamrom, Boris, Ronemus, Michael, Iossifov, Ivan, Willsey, A. Jeremy, State, Matthew W., Kaltman, Jonathan R., White, Peter S., Shen, Yufeng, Warburton, Dorothy, Brueckner, Martina, Seidman, Christine, Goldmuntz, Elizabeth, Gelb, Bruce D., Lifton, Richard, Seidman, Jonathan, Hakonarson, Hakon, Chung, Wendy K.
Publicado em 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

De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Por Dong, Shan, Walker, Michael F., Carriero, Nicholas J., DiCola, Michael, Willsey, A. Jeremy, Ye, Adam Y., Waqar, Zainulabedin, Gonzalez, Luis E., Overton, John D., Frahm, Stephanie, Keaney, John F., Teran, Nicole A., Dea, Jeanselle, Mandell, Jeffrey D., Bal, Vanessa Hus, Sullivan, Catherine A., DiLullo, Nicholas M., Khalil, Rehab O., Gockley, Jake, Yuksel, Zafer, Sertel, Sinem M., Ercan-Sencicek, A. Gulhan, Gupta, Abha R., Mane, Shrikant M., Sheldon, Michael, Brooks, Andrew I., Roeder, Kathryn, Devlin, Bernie, State, Matthew W., Wei, Liping, Sanders, Stephan J.
Publicado em 2014

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)

Synaptic, transcriptional, and chromatin genes disrupted in autism

Por De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Cicek, A Ercument, Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarjinder, Klei, Lambertus, Kosmicki, Jack, Fu, Shih-Chen, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F., Brownfeld, Jessica M., Cai, Jinlu, Campbell, Nicholas J., Carracedo, Angel, Chahrour, Maria H., Chiocchetti, Andreas G., Coon, Hilary, Crawford, Emily L., Crooks, Lucy, Curran, Sarah R., Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A., Gallagher, Louise, Geller, Evan, Guter, Stephen J., Hill, R. Sean, Ionita-Laza, Iuliana, Gonzalez, Patricia Jimenez, Kilpinen, Helena, Klauck, Sabine M., Kolevzon, Alexander, Lee, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma'ayan, Avi, Marshall, Christian R., McInnes, Alison L., Neale, Benjamin, Owen, Michael J., Ozaki, Norio, Parellada, Mara, Parr, Jeremy R., Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J., Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Wang, Li-San, Weiss, Lauren A., Willsey, A. Jeremy, Yu, Timothy W., Yuen, Ryan K.C., Cook, Edwin H., Freitag, Christine M., Gill, Michael, Hultman, Christina M., Lehner, Thomas, Palotie, Aarno, Schellenberg, Gerard D., Sklar, Pamela, State, Matthew W., Sutcliffe, James S., Walsh, Christopher A., Scherer, Stephen W., Zwick, Michael E., Barrett, Jeffrey C., Cutler, David J., Roeder, Kathryn, Devlin, Bernie, Daly, Mark J., Buxbaum, Joseph D.
Publicado no Nature (2014)