Search Results - Jacob, Cynthia R. O.

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    De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype by Pena, Loren D.M., Hempel, Maja, McLaughlin, Heather M., Cho, Megan, Stong, Nicholas, Shuss, Christine M., Burrage, Lindsay C., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Lalani, Seema R., Lewis, Richard A., Posey, Jennifer E., Hanchard, Neil A., Mercedes, Alejandro E., Wangler, Michael F., Muzny, Donna M., Ward, Patricia A., Ramoni, Rachel B., McCray, Alexa T., Mazur, Paul, Splinter, Kimberly, Esteves, Cecilia, Jiang, Yong-hui, Pena, Loren D.M., McConkie-Rosell, Allyn, Schoch, Kelly, Spillmann, Rebecca C., Goldstein, David B., Loscalzo, Joseph, Rodan, Lance H., Walsh, Chris A., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Lincoln, Sharyn A., Worthey, Elizabeth A., Lazar, Joe, Handley, Lori H., Newberry, J. Scott, Schroeder, Molly C., Brown, Donna M., Levy, Shawn E., Dorset, Dan C., Jones, Angela L., Manolio, Teri A., Wise, Anastasia L., Eckstein, David J., Krasnewich, Donna M., Loomis, Carson R., Iglesias, Brenda, Martin, Casey, Koeller, David M., Ashley, Euan A., Zornio, Patricia A., Nelson, Stan F., Palmer, Christina G.S., Allard, Patrick, Dell Angelica, Esteban C., Lee, Hane, Papp, Jeanette C., Dorrani, Naghmeh, Draper, David D., Estwick, Tyra, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Johnston, Jean M., Latham, Lea, Macnamara, Ellen F., Maduro, Valerie V., Malicdan, May V., McCarty, Alexandra J., Murphy, Jennifer L., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Soldatos, Ariane G., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Wahl, Colleen E., Weech, Alec A., Yu, Guoyun, Hamid, Rizwan, Bellet, Jane S., Keels, Martha Ann, El-Dairi, Maysantoine, Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Kurki, Mitja I., Hoischen, Alexander, Goldstein, David B.

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    Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder by Mignot, Cyril, Littlejohn, Rebecca O., Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Peter Chang, Ta Chen, D'Souza, Precilla, Dasari, Surendra, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hutchison, Sarah, Izumi, Kosuke, Jarvik, Gail P., Jayadev, Suman, Jean-Marie, Orpa, Kennedy, Jennifer, Ketkar, Shamika, Kohane, Isaac S., Kohler, Jennefer N., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Levitt, Roy, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Morava, Eva, Nakano-Okuno, Mariko, Newman, John H., Nickerson, Deborah, Oglesbee, Devin, Pallais, J. Carl, Phillips, John A., Rosenwasser, Natalie, Schedl, Timothy, Shashi, Vandana, Sisco, Kathy, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Hubshman, Monika Weisz, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Sarret, Catherine, Platzer, Konrad, Fischer, Susann, Granadillo, Jorge L., Schreiner, Elisabeth

    Published in Pediatric neurology
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    A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay by Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Liston, Eriskay, Scaglia, Fernando, Rosenfeld, Jill A., Deardorff, Matthew A., Akdemir, Zeynep Coban, Jasien, Joan, Kansagra, Sujay, Freedman, Sharon, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Nelson, Stanley F., Lee, Hane, Vilain, Eric, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Bacino, Carlos A., Balasubramanyam, Ashok, Craigen, William J., Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Lewis, Richard A., Moretti, Paolo M., Orange, Jordan S., Potocki, Lorraine, Rosenfeld, Jill A., Wangler, Michael F., Yamamoto, Shinya, Muzny, Donna M., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Schoch, Kelly, Walley, Nicole M., Beggs, Alan H., Krier, Joel B., Loscalzo, Joseph, Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Splinter, Kimberly, Brown, Donna M., Dorset, Dan C., Jones, Angela L., Lazar, Jozef, Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Dayal, Jyoti G., Loomis, Carson R., Mulvihill, John J., Wise, Anastasia L., Haendel, Melissa, Kyle, Jennifer E., Webb-Robertson, Bobbie-Jo M., Kohler, Jennefer N., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Frost, Kate, Gartner, Valerie, Gordon, Mary “Gracie” G., Groden, Catherine A., Hardee, Isabel, Johnston, Jean M., Latham, Lea, Lau, C. Christopher, Maduro, Valerie V., Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Valivullah, Zaheer M., Wahl, Colleen E., Weech, Alec A., Westerfield, Monte, Bican, Anna, Phillips, John A., Robertson, Amy K., Xiao, Rui, Posey, Jennifer E., Wangler, Michael F., Shashi, Vandana

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