Search Results - Vogel, Ashley N.

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    HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder by Niggl, Eva, Elgersma, Minetta, Clayton-Smith, Jill, Jain, Mahim, Krantz, Ian, Vetrini, Francesco, Witt, Dennis, Zhou, Dihong, Arumugam, P., Boardman-Pretty, F., Brown, M.A., Chan, G.C., Henderson, S., Kayikci, M., Kousathanas, A., Lahnstein, L., Maleady-Crowe, F., McEntagart, M., Minneci, F., O‘Donovan, P., Pereira, M.B., Rahim, T., Savage, K., Sawant, K., Smith, S.C., Sosinsky, A., Tucci, A., Williams, E., Alvey, Justin, Andrews, Ashley, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Bayrak-Toydemir, Pinar, Bejerano, Gill, Bican, Anna, Bivona, Stephanie, Bonner, Devon, Burke, Elizabeth A., Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Corona, Rosario, Crouse, Andrew B., Dipple, Katrina, Doss, Argenia L., Fisher, Paul G., Fu, Jiayu, Gahl, William A., Hamid, Rizwan, Hassey, Kelly, Huang, Yan, Introne, Wendy, Izumi, Kosuke, Jean-Marie, Orpa, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kohane, Isaac S., Krakow, Deborah, Lewis, Richard A., Loscalzo, Joseph, Maghiro, AudreyStephannie, Mahoney, Rachel, Mao, Rong, Marth, Gabor, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mirzaa, Ghayda, Morava, Eva, Morimoto, Marie, Nelson, Stanley F., Novacic, Donna, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rossignol, Francis, Schaechter, Judy, Shashi, Vandana, Shin, Jimann, Sinsheimer, Janet, Solnica-Krezel, Lilianna, Sullivan, Kathleen, Tan, Amelia L., Tarakad, Arjun, Telischi, Fred, Urv, Tiina K., Wahl, Colleen E., Wan, Jijun

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    De novo variants in DENND5B cause a neurodevelopmental disorder by Scala, Marcello, Ferla, Matteo, Fatemi, Ali, Phillips, John A., Rio, Marlene, Siquier, Karine, Musante, Ilaria, Baldassari, Simona, Iacomino, Michele, Acosta, Maria T., Allworth, Aimee, Afzali, Ben, Bademci, Guney, Beck, Anita, Berry, Gerard T., Bican, Anna, Bohnsack, John, Botto, Lorenzo, Brown, Gabrielle, Carrasquillo, Olveen, Chanprasert, Sirisak, Chao, HsiaoTuan, Chinn, Ivan, Clark, Gary D., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Fisher, Paul G., Fogel, Brent L., Gahl, William A., Glass, Ian, Godfrey, Rena A., Grajewski, Alana, Gropman, Andrea, Halley, Meghan C., Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, Hom, Jason, Huang, Alden, Introne, Wendy, Jarvik, Jeffrey, Jobanputra, Vaidehi, Kilich, Gonench, Kohler, Jennefer N., Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo, Morimoto, Marie, Nakano-Okuno, Mariko, Nieves-Rodriguez, Shirley, Orengo, James P., Pace, Laura, Parker, Neil H., Quinlan, Aaron, Raper, Anna, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rossignol, Francis, Saporta, Mario, Schaechter, Judy, Seto, Elaine, Shelkowitz, Emily, Shin, Jimann, Solnica-Krezel, Lilianna, Sweetser, David A., Sybert, Virginia, Tarakad, Arjun, Velinder, Matt, Viskochil, Dave, Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Reed, Sara, Al Saif, Hind, Walsh, Matthew B., Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Severino, Mariasavina

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    Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant by Stellacci, Emilia, Stevenson, David, Moslehi, Dorsa, Adams, David R., Afzali, Ben, Allworth, Aimee, Alvey, Justin, Ashley, Euan A., Bacino, Carlos A., Baldwin, Erin, Bale, Jim, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bernstein, Jonathan A., Blue, Elizabeth, Burke, Elizabeth A., Burrage, Lindsay C., Byrd, William E., Carey, John, Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Corona, Rosario I., Cuddapah, Vishnu, D'Souza, Precilla, Dasari, Surendra, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Esteves, Cecilia, Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Gonzalez, Joanna M., Gropman, Andrea, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Horike‐Pyne, Martha, Hurst, Anna, Jean‐Marie, Orpa, Jobanputra, Vaidehi, Kanca, Oguz, Kiley, Dana, Korf, Bruce, Krakow, Deborah, Lam, Christina, Lee, Brendan H., Leppig, Kathleen A., Longo, Nicola, Macnamara, Ellen F., Mao, Rong, Marth, Gabor, Martínez‐Agosto, Julian A., McConkie‐Rosell, Allyn, McMinn, Ashley, Mikati, Mohamad, Mitchell, Breanna, Morimoto, Marie, Mulvihill, John J., Orengo, James P., Petcharet, Leoyklang, Phillips, John A., Swerdzewski, Barbara N. Pusey, Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Rosenthal, Elizabeth, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Seto, Elaine, Shashi, Vandana, Sheppeard, Sam, Sirugo, Giorgio, Smith, Carson A., Solomon, Ben, Sullivan, Kathleen, Sybert, Virginia, Taylor, Herman, Tekin, Mustafa, Toro, Camilo, Ungar, Rachel A., Wahl, Colleen E., Walker, Melissa, Wegner, Daniel, Hubshman, Monika Weisz, Wheeler, Matthew T., Bernstein, Jonathan A.

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    Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region by Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Pérez‐Palma, Eduardo, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Baker, Eva, Barseghyan, Hayk, Batzli, Gabriel F., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bostwick, Bret L., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Clark, Gary D., Colley, Heather A., Cooper, Cynthia M., Davids, Mariska, Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Emrick, Lisa T., Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hom, Jason, Howerton, Ellen M., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Koziura, Mary, Lalani, Seema R., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez‐Agosto, Julian A., May, Thomas, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Potocki, Lorraine, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stong, Nicholas, Sullivan, Jennifer A., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yoon, Amanda J., Zastrow, Diane B.

    Published in Epilepsia (Copenhagen)
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