101. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
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Schoch, Kelly, primary, Meng, Linyan, additional, Szelinger, Szabolcs, additional, Bearden, David R., additional, Stray-Pedersen, Asbjorg, additional, Busk, Oyvind L., additional, Stong, Nicholas, additional, Liston, Eriskay, additional, Cohn, Ronald D., additional, Scaglia, Fernando, additional, Rosenfeld, Jill A., additional, Tarpinian, Jennifer, additional, Skraban, Cara M., additional, Deardorff, Matthew A., additional, Friedman, Jeremy N., additional, Akdemir, Zeynep Coban, additional, Walley, Nicole, additional, Mikati, Mohamad A., additional, Kranz, Peter G., additional, Jasien, Joan, additional, McConkie-Rosell, Allyn, additional, McDonald, Marie, additional, Wechsler, Stephanie Burns, additional, Freemark, Michael, additional, Kansagra, Sujay, additional, Freedman, Sharon, additional, Bali, Deeksha, additional, Millan, Francisca, additional, Bale, Sherri, additional, Nelson, Stanley F., additional, Lee, Hane, additional, Dorrani, Naghmeh, additional, Goldstein, David B., additional, Xiao, Rui, additional, Yang, Yaping, additional, Posey, Jennifer E., additional, Martinez-Agosto, Julian A., additional, Lupski, James R., additional, Wangler, Michael F., additional, Shashi, Vandana, additional, Grody, Wayne W., additional, Strom, Samuel P., additional, Vilain, Eric, additional, Deignan, Joshua, additional, Quintero-Rivera, Fabiola, additional, Kantarci, Sibel, additional, Mullegama, Sureni, additional, Kang, Sung-Hae, additional, Alejandro, Mercedes E., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Clark, Gary D., additional, Craigen, William J., additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Graham, Brett H., additional, Hanchard, Neil A., additional, Jain, Mahim, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Mashid, Azamian S., additional, Moretti, Paolo M., additional, Nicholas, Sarah K., additional, Orange, Jordan S., additional, Potocki, Lorraine, additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Bellen, Hugo J., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Muzny, Donna M., additional, Ward, Patricia A., additional, Gropman, Andrea L., additional, Jiang, Yong-hui, additional, Pena, Loren D.M., additional, Schoch, Kelly, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Walley, Nicole M., additional, Beggs, Alan H., additional, Briere, Lauren C., additional, Cooper, Cynthia M., additional, Donnell-Fink, Laurel A., additional, Krieg, Elizabeth L., additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Holm, Ingrid A., additional, Kohane, Isaac S., additional, Mazur, Paul, additional, McCray, Alexa T., additional, Might, Matthew, additional, Ramoni, Rachel B., additional, Splinter, Kimberly, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Brown, Donna M., additional, Dorset, Dan C., additional, Handley, Lori H., additional, Jacob, Howard J., additional, Jones, Angela L., additional, Lazar, Jozef, additional, Levy, Shawn E., additional, Newberry, J. Scott, additional, Schroeder, Molly C., additional, Strong, Kimberly A., additional, Worthey, Elizabeth A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Gould, Sarah E., additional, Howerton, Ellen M., additional, Krasnewich, Donna M., additional, Loomis, Carson R., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, Wise, Anastasia L., additional, Soldatos, Ariane G., additional, Brush, Matthew, additional, Gourdine, Jean-Philippe F., additional, Haendel, Melissa, additional, Koeller, David M., additional, Kyle, Jennifer E., additional, Metz, Thomas O., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Ashley, Euan A., additional, Bernstein, Jonathan A., additional, Dries, Annika M., additional, Fisher, Paul G., additional, Kohler, Jennefer N., additional, Waggott, Daryl M., additional, Wheeler, Matt T., additional, Zornio, Patricia A., additional, Allard, Patrick, additional, Barseghyan, Hayk, additional, Dell’Angelica, Esteban C., additional, Dipple, Katrina M., additional, Herzog, Matthew R., additional, Nelson, Stan F., additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Sinsheimer, Janet S., additional, Adams, Christopher J., additional, Burke, Elizabeth A., additional, Chao, Katherine R., additional, Davids, Mariska, additional, Draper, David D., additional, Estwick, Tyra, additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Gordon, Mary “Gracie” G., additional, Groden, Catherine A., additional, Hackbarth, Mary E., additional, Hardee, Isabel, additional, Johnston, Jean M., additional, Koehler, Alanna E., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, C. Christopher, additional, Levy, Denise J., additional, Liebendorder, Adam P., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, McCarty, Alexandra J., additional, Murphy, Jennifer L., additional, Nehrebecky, Michele E., additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Sharma, Prashant, additional, Thomas, Sara P., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Valivullah, Zaheer M., additional, Wahl, Colleen E., additional, Warburton, Mike, additional, Weech, Alec A., additional, Yu, Guoyun, additional, Adams, David R., additional, Gahl, William A., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Lee, Paul R., additional, Postlethwait, John H., additional, Westerfield, Monte, additional, Bican, Anna, additional, Hamid, Rizwan, additional, Newman, John H., additional, Phillips, John A., additional, Robertson, Amy K., additional, and Cogan, Joy D., additional
- Published
- 2017
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