A spectral approach integrating functional genomic annotations for coding and noncoding variants von Ionita-Laza, Iuliana, McCallum, Kenneth, Xu, Bin, Buxbaum, Joseph D

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Genetics and genomics of autism spectrum disorder: embracing complexity von De Rubeis, Silvia, Buxbaum, Joseph D

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Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants von Ionita-Laza, Iuliana, Lee, Seunggeun, Makarov, Vlad, Buxbaum, Joseph D., Lin, Xihong

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Autism spectrum disorder: neuropathology and animal models von Varghese, Merina, Keshav, Neha, Jacot-Descombes, Sarah, Warda, Tahia, Wicinski, Bridget, Dickstein, Dara L., Harony-Nicolas, Hala, De Rubeis, Silvia, Drapeau, Elodie, Buxbaum, Joseph D., Hof, Patrick R.

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Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators von Duffney, Lara J., Zhong, Ping, Wei, Jing, Matas, Emmanuel, Cheng, Jia, Qin, Luye, Ma, Kaijie, Dietz, David M., Kajiwara, Yuji, Buxbaum, Joseph D., Yan, Zhen

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The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders von Betancur, Catalina, Sakurai, Takeshi, Buxbaum, Joseph D

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The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders von Buxbaum, Joseph D., Daly, Mark J., Devlin, Bernie, Lehner, Thomas, Roeder, Kathryn, State, Matthew W.

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SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders von Betancur, Catalina, Buxbaum, Joseph D

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Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease von Lambert, Jean-Charles, Ibrahim-Verbaas, Carla A, Naj, Adam C, Sims, Rebecca, Bellenguez, Céline, DeStefano, Anita L, Bis, Joshua C, Grenier-Boley, Benjamin, Russo, Giancarlo, Thornton-Wells, Tricia A, Chouraki, Vincent, Zelenika, Diana, Vardarajan, Badri N, Lin, Chiao-Feng, Gerrish, Amy, Schmidt, Helena, Pasquier, Florence, Hollingworth, Paul, Ramirez, Alfredo, Fitzpatrick, Annette L, Buxbaum, Joseph D, Crane, Paul K, Gudnason, Vilmundur, Cruchaga, Carlos, Craig, David, Amin, Najaf, De Jager, Philip L, Deramecourt, Vincent, Johnston, Janet A, Letenneur, Luc, Morón, Francisco J, Kamboh, M Ilyas, Keller, Lina, Barberger-Gateau, Pascale, McGuinness, Bernadette, Larson, Eric B, Green, Robert, Dufouil, Carole, Wallon, David, Love, Seth, St George-Hyslop, Peter, Clarimon, Jordi, Lleo, Alberto, Tsuang, Debby W, Yu, Lei, Bossù, Paola, Proitsi, Petroula, Sorbi, Sandro, Hardy, John, Naranjo, Maria Candida Deniz, Clarke, Robert, Brayne, Carol, Galimberti, Daniela, Mancuso, Michelangelo, Matthews, Fiona, Hampel, Harald, Pilotto, Alberto, Panza, Francesco, Caffarra, Paolo, Gilbert, John R, Mayhaus, Manuel, Lannfelt, Lars, Pichler, Sabrina, Carrasquillo, Minerva M, Alvarez, Victoria, Valladares, Otto, Younkin, Steven G, Coto, Eliecer, Razquin, Cristina, Pastor, Pau, Mateo, Ignacio, O'Donovan, Michael C, Cantwell, Laura B, Blacker, Deborah, Mosley, Thomas H, Bennett, David A, Harris, Tamara B, Holmes, Clive, Passmore, Peter, Montine, Thomas J, Bettens, Karolien, Rotter, Jerome I, Brice, Alexis, Morgan, Kevin, Lunetta, Kathryn L, Kauwe, John S K, Boerwinkle, Eric, Hiltunen, Mikko, Rujescu, Dan, Mayeux, Richard, Hofman, Albert, Graff, Caroline, Psaty, Bruce M, Farrer, Lindsay A, van Duijn, Cornelia M, Van Broeckhoven, Christine, Moskvina, Valentina, Seshadri, Sudha, Williams, Julie, Amouyel, Philippe

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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder von Werling, Donna M., Brand, Harrison, An, Joon-Yong, Stone, Matthew R., Zhu, Lingxue, Glessner, Joseph T., Collins, Ryan L., Dong, Shan, Layer, Ryan M., Markenscoff-Papadimitriou, Eirene, Farrell, Andrew, Schwartz, Grace B., Wang, Harold Z., Currall, Benjamin B., Zhao, Xuefang, Dea, Jeanselle, Duhn, Clif, Erdman, Carolyn A., Gilson, Michael C., Yadav, Rachita, Handsaker, Robert E., Kashin, Seva, Klei, Lambertus, Mandell, Jeffrey D., Nowakowski, Tomasz J., Liu, Yuwen, Pochareddy, Sirisha, Smith, Louw, Walker, Michael F., Waterman, Matthew J., He, Xin, Kriegstein, Arnold R., Rubenstein, John L., Sestan, Nenad, McCarroll, Steven A., Neale, Benjamin M., Coon, Hilary, Willsey, A. Jeremy, Buxbaum, Joseph D., Daly, Mark J., State, Matthew W., Quinlan, Aaron R., Marth, Gabor T., Roeder, Kathryn, Devlin, Bernie, Talkowski, Michael E., Sanders, Stephan J.

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Synaptic, transcriptional and chromatin genes disrupted in autism von De Rubeis, Silvia, He, Xin, Goldberg, Arthur P., Poultney, Christopher S., Samocha, Kaitlin, Ercument Cicek, A., 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 G., 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., Sean Hill, R., Ionita-Laza, Iuliana, Jimenez Gonzalez, Patricia, 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., Jeremy Willsey, A., 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.

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Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders von Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Vorstman, Jacob A.S., Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T., Oliveira, Bárbara, Magalhaes, Tiago R., Lowe, Jennifer K., Howe, Jennifer L., Gilbert, John, Duketis, Eftichia, Dombroski, Beth A., Cuccaro, Michael, Crawford, Emily L., Correia, Catarina T., Conroy, Judith, Conceição, Inês C., Chiocchetti, Andreas G., Casey, Jillian P., Cai, Guiqing, Cabrol, Christelle, Bacchelli, Elena, Gallinger, Steven, Cotterchio, Michelle, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L. Alison, McGrew, Susan G., Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S., Kolevzon, Alexander, Jiménez González, Patricia, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F., Bernier, Raphael, Baird, Gillian, Bailey, Anthony J., Almeida, Joana, Wijsman, Ellen M., Vieland, Veronica J., Vicente, Astrid M., Schellenberg, Gerard D., Pericak-Vance, Margaret, Paterson, Andrew D., Parr, Jeremy R., Oliveira, Guiomar, Nurnberger, John I., Monaco, Anthony P., Maestrini, Elena, Klauck, Sabine M., Hakonarson, Hakon, Haines, Jonathan L., Geschwind, Daniel H., Freitag, Christine M., Folstein, Susan E., Ennis, Sean, Coon, Hilary, Battaglia, Agatino, Szatmari, Peter, Sutcliffe, James S., Hallmayer, Joachim, Gill, Michael, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Gallagher, Louise, Betancur, Catalina, Scherer, Stephen W.

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Comorbidities in autism spectrum disorder and their etiologies von Khachadourian, Vahe, Mahjani, Behrang, Sandin, Sven, Kolevzon, Alexander, Buxbaum, Joseph D., Reichenberg, Abraham, Janecka, Magdalena

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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder von Lim, Elaine T, Uddin, Mohammed, De Rubeis, Silvia, Chan, Yingleong, Kamumbu, Anne S, Zhang, Xiaochang, D'Gama, Alissa M, Kim, Sonia N, Hill, Robert Sean, Goldberg, Arthur P, Poultney, Christopher, Minshew, Nancy J, Kushima, Itaru, Aleksic, Branko, Ozaki, Norio, Parellada, Mara, Arango, Celso, Penzol, Maria J, Carracedo, Angel, Kolevzon, Alexander, Hultman, Christina M, Weiss, Lauren A, Fromer, Menachem, Chiocchetti, Andreas G, Freitag, Christine M, Church, George M, Scherer, Stephen W, Buxbaum, Joseph D, Walsh, Christopher A

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples von Kosmicki, Jack A, Samocha, Kaitlin E, Howrigan, Daniel P, Sanders, Stephan J, Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J, Cutler, David J, Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D, Neale, Benjamin M, MacArthur, Daniel G, Wall, Dennis P, Robinson, Elise B, Daly, Mark J

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A framework for the interpretation of de novo mutation in human disease von Samocha, Kaitlin E, Robinson, Elise B, Sanders, Stephan J, Stevens, Christine, Sabo, Aniko, McGrath, Lauren M, Kosmicki, Jack A, Rehnström, Karola, Mallick, Swapan, Kirby, Andrew, Wall, Dennis P, MacArthur, Daniel G, Gabriel, Stacey B, DePristo, Mark, Purcell, Shaun M, Palotie, Aarno, Boerwinkle, Eric, Buxbaum, Joseph D, Cook, Edwin H, Gibbs, Richard A, Schellenberg, Gerard D, Sutcliffe, James S, Devlin, Bernie, Roeder, Kathryn, Neale, Benjamin M, Daly, Mark J

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Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay von Bozdagi, Ozlem, Tavassoli, Teresa, Buxbaum, Joseph D

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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder von An, Joon-Yong, Lin, Kevin, Zhu, Lingxue, Werling, Donna M, Dong, Shan, Brand, Harrison, Wang, Harold Z, Zhao, Xuefang, Schwartz, Grace B, Collins, Ryan L, Currall, Benjamin B, Dastmalchi, Claudia, Dea, Jeanselle, Duhn, Clif, Gilson, Michael C, Klei, Lambertus, Liang, Lindsay, Markenscoff-Papadimitriou, Eirene, Pochareddy, Sirisha, Ahituv, Nadav, Buxbaum, Joseph D, Coon, Hilary, Daly, Mark J, Kim, Young Shin, Marth, Gabor T, Neale, Benjamin M, Quinlan, Aaron R, Rubenstein, John L, Sestan, Nenad, State, Matthew W, Willsey, A Jeremy, Talkowski, Michael E, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J

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Expression profiling associates blood and brain glucocorticoid receptor signaling with trauma-related individual differences in both sexes von Daskalakis, Nikolaos P., Cohen, Hagit, Cai, Guiqing, Buxbaum, Joseph D., Yehuda, Rachel

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Patterns and rates of exonic de novo mutations in autism spectrum disorders von Neale, Benjamin M., Kou, Yan, Liu, Li, Ma’ayan, Avi, Samocha, Kaitlin E., Sabo, Aniko, Lin, Chiao-Feng, Stevens, Christine, Wang, Li-San, Makarov, Vladimir, Polak, Paz, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Schafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth, Kirby, Andrew, Flannick, Jason, Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil, Boerwinkle, Eric, Buxbaum, Joseph D., Cook Jr, Edwin H., Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark J.

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