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    SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research von Feliciano, Pamela, Daniels, Amy M., Esler, Amy, Gutierrez, Anibal, Nicholson, Amy, Stephens, Alexandra N., Stedman, Amy, Finucane, Brenda, O’Roak, Brian J., Robertson, Beverly E., Rodriguez, Barbara, Van Metre, Bonnie, Bradley, Catherine, Erickson, Craig A., Harkins, Christina, Ochoa-Lubinoff, Cesar, Rosenberg, Cordelia R., Smith, Christopher J., Taylor, Cora M., White, Loran Casey, Walston, Corrie H., Amaral, David G., Coury, Daniel Lee, Sarver, Dustin E., Li, Deana, Berry-Kravis, Elizabeth, Fombonne, Eric J., Hofammann, Eugenia, Wodka, Ericka L., O’Connor, Eirene, Miller, Fiona, Stein, Gail, Hutter, Hanna, Li, Hai, Lechniak, Holly, Schneider, Hoa Lam, Zaydens, Hana, Arriaga, Ivette, Cubells, Joseph F., Cordova, Jeanette M., Gunderson, Jaclyn, McCracken, James T., Michaelson, Jacob J., Neely, Jason, Orobio, Jessica, Piven, Joseph, Tjernagel, Jennifer, Dent, Katherine, Schweers, Kathryn A., Law, J. Kiely, Lowe, Kathryn, O’Brien, Kaela, Smith, Kaitlin, Pawlowski, Katherine G., Pierce, Karen L., Roeder, Katherine, Coppola, Leigh A., Carpenter, Laura, Huang-Storms, Lark Y., Herbert, Lynette M., Simon, Laura, Soorya, Latha V., Wasserburg, Lucy, Lazar, Maya, Currin, Mary Hannah, Heyman, Michelle, Jones, Mark, Jordy, Michelle, Sahin, Mustafa, Siegel, Matthew S., Yinger, Meredith, Hanna, Nathan, Juarez, A. Pablo, Remington, Rick, Schultz, Robert T., Carpenter, Sarah, Eldred, Sara, Francis, Sunday, Horner, Susannah, Lee, Soo J., Mastel, Sarah A., Myers, Vincent J., Amatya, Alpha, Chatha, Ahmad S., Lash, Alex E., Ridenour, Curtis, Stock, Colleen M., Schmidt, Danielle, Butler, Martin E., Carriero, Nicholas, Volfovsky, Natalia, Edgar, Ron, Chin, Wubin, Jensen, William, Krentz, Anthony D., Astrovskaya, Irina, Gibbs, Richard A., Han, Xinwei, Shen, Yufeng, Reichardt, Louis F.

    Veröffentlicht in Neuron (Cambridge, Mass.)

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    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome von Cousin, Margot A., Creighton, Blake A., Breau, Keith A., Spillmann, Rebecca C., Torti, Erin, Dontu, Sruthi, Tripathi, Swarnendu, Ajit, Deepa, Edwards, Reginald J., Afriyie, Simone, Bay, Julia C., Harper, Kathryn M., Beltran, Alvaro A., Munoz, Lorena J., Falcon Rodriguez, Liset, Stankewich, Michael C., Person, Richard E., Si, Yue, Normand, Elizabeth A., Blevins, Amy, May, Alison S., Bier, Louise, Aggarwal, Vimla, Mancini, Grazia M. S., van Slegtenhorst, Marjon A., Cremer, Kirsten, Becker, Jessica, Engels, Hartmut, Aretz, Stefan, MacKenzie, Jennifer J., Brilstra, Eva, van Gassen, Koen L. I., van Jaarsveld, Richard H., Oegema, Renske, Parsons, Gretchen M., Mark, Paul, Helbig, Ingo, McKeown, Sarah E., Stratton, Robert, Cogne, Benjamin, Isidor, Bertrand, Cacheiro, Pilar, Smedley, Damian, Firth, Helen V., Bierhals, Tatjana, Kloth, Katja, Weiss, Deike, Fairley, Cecilia, Shieh, Joseph T., Kritzer, Amy, Jayakar, Parul, Kurtz-Nelson, Evangeline, Bernier, Raphael A., Wang, Tianyun, Eichler, Evan E., van de Laar, Ingrid M. B. H., McConkie-Rosell, Allyn, McDonald, Marie T., Kemppainen, Jennifer, Lanpher, Brendan C., Schultz-Rogers, Laura E., Gunderson, Lauren B., Pichurin, Pavel N., Yoon, Grace, Zech, Michael, Jech, Robert, Winkelmann, Juliane, Beltran, Adriana S., Zimmermann, Michael T., Temple, Brenda, Moy, Sheryl S., Klee, Eric W., Tan, Queenie K.-G., Lorenzo, Damaris N.

    Veröffentlicht in Nature genetics

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