Clinical utility of exome sequencing in a pediatric epilepsy cohort von Graifman, Jordana L., Lippa, Natalie C., Mulhern, Maureen S., Bergner, Amanda L., Sands, Tristan T.

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Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome von Siper, Paige M., Rowe, Mikaela A., Guillory, Sylvia B., Rouhandeh, Audrey A., George-Jones, Julia L., Tavassoli, Teresa, Lurie, Stacey, Zweifach, Jessica, Weissman, Jordana, Foss-Feig, Jennifer, Halpern, Danielle, Trelles, M. Pilar, Mulhern, Maureen S., Brittenham, Chloe, Gordon, James, Zemon, Vance, Buxbaum, Joseph D., Kolevzon, Alexander

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3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay von Bi, Xin, Mulhern, Maureen S., Spiegel, Erica, Wapner, Ronald J., Levy, Brynn, Bain, Jennifer M., Liao, Jun

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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures von Myers, Candace T., Stong, Nicholas, Mountier, Emily I., Helbig, Katherine L., Freytag, Saskia, Sullivan, Joseph E., Ben Zeev, Bruria, Nissenkorn, Andreea, Tzadok, Michal, Heimer, Gali, Shinde, Deepali N., Rezazadeh, Arezoo, Regan, Brigid M., Oliver, Karen L., Ernst, Michelle E., Lippa, Natalie C., Mulhern, Maureen S., Ren, Zhong, Poduri, Annapurna, Andrade, Danielle M., Bird, Lynne M., Bahlo, Melanie, Berkovic, Samuel F., Lowenstein, Daniel H., Scheffer, Ingrid E., Sadleir, Lynette G., Goldstein, David B., Mefford, Heather C., Heinzen, Erin L.

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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism von Satterstrom, F. Kyle, Breen, Michael S., Grove, Jakob, Klei, Lambertus, Xu, Xinyi, Norman, Utku, Brand, Harrison, Schwartz, Grace, Barbosa, Mafalda, Bybjerg-Grauholm, Jonas, Carracedo, Angel, Chiocchetti, Andreas G., Chung, Brian H.Y., Coon, Hilary, Cuccaro, Michael L., Dalla Bernardina, Bernardo, Domenici, Enrico, Dong, Shan, Freitag, Christine M., González-Peñas, Javier, Guter, Stephen, He, Xin, Herman, Gail E., Hertz-Picciotto, Irva, Hougaard, David M., Ionita-Laza, Iuliana, Jacob, Suma, Jamison, Jesslyn, Jugessur, Astanand, Kolevzon, Alexander, Kushima, Itaru, Lee, So Lun, Lehtimäki, Terho, Lim, Elaine T., Lipkin, W. Ian, Lopergolo, Diego, Lopes, Fátima, Ludena, Yunin, Maciel, Patricia, Meiri, Gal, Menashe, Idan, Miller, Judith, Montenegro, Eduarda M.S., Muglia, Pierandrea, Nordentoft, Merete, Ozaki, Norio, Palotie, Aarno, Parellada, Mara, Passos-Bueno, Maria Rita, Persico, Antonio M., Pessah, Isaac, Puura, Kaija, Renieri, Alessandra, Riberi, Evelise, Robinson, Elise B., Samocha, Kaitlin E., Sandin, Sven, Santangelo, Susan L., Schellenberg, Gerry, Scherer, Stephen W., Schmitt, Lauren, Silva, Isabela M.W., Singh, Tarjinder, Siper, Paige M., Soares, Gabriela, Susser, Ezra, Szatmari, Peter, Tang, Lara, Tassone, Flora, Teufel, Karoline, Trelles, Maria del Pilar, Werge, Thomas, Werling, Donna M., Wigdor, Emilie M., Yu, Mullin H.C., Zachi, Elaine, Agerbo, Esben, Als, Thomas Damm, Bækvad-Hansen, Marie, Belliveau, Rich, Cerrato, Felecia, Chambert, Kimberly, Churchhouse, Claire, Dumont, Ashley, Hansen, Christine S., Hauberg, Mads Engel, Hollegaard, Mads V., Howrigan, Daniel P., Maller, Julian, Mattheisen, Manuel, Moran, Jennifer, Pallesen, Jonatan, Poulsen, Jesper Buchhave, Ripke, Stephan, Gallagher, Louise, Gill, Michael, Zwick, Michael E., State, Matthew W., Daly, Mark J., Buxbaum, Joseph D.

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The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield von Berkovic, Samuel F., Goldstein, David B., Heinzen, Erin L., Laughlin, Brandon L., Lowenstein, Daniel H., Lubbers, Laura, Stewart, Randall, Whittemore, Vicky, Angione, Kaitlin, Bazil, Carl W., Bier, Louise, Bluvstein, Judith, Brimble, Elise, Campbell, Colleen, Cavalleri, Gianpiero, Chambers, Chelsea, Choi, Hyunmi, Cilio, Maria Roberta, Ciliberto, Michael, Cornes, Susannah, Delanty, Norman, Demarest, Scott, Devinsky, Orrin, Dlugos, Dennis, Dubbs, Holly, Dugan, Patricia, Ernst, Michelle E., Gibbons, Melissa, Goodkin, Howard P., Helbig, Ingo, Jansen, Laura, Johnson, Kaleas, Joshi, Charuta, Lippa, Natalie C., Marsh, Eric, Martinez, Alejandro, Millichap, John, Mulhern, Maureen S., Numis, Adam, Park, Kristen, Pippucci, Tommaso, Poduri, Annapurna, Porter, Brenda, Regan, Brigid, Sands, Tristan T., Scheffer, Ingrid E., Schreiber, John M., Sheidley, Beth, Singhal, Nilika, Smith, Lacey, Sullivan, Joseph, Taylor, Alan, Tolete, Patricia, Afgani, Tahseen M., Aggarwal, Vimla, Burgess, Rosemary, Dixon‐Salazar, Tracy, Hemati, Parisa, Milder, Julie, Petrovski, Slavé, Revah‐Politi, Anya, Stong, Nicholas

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity von Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S. C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M. S., Madan‐Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz‐Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla

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NBEA: Developmental disease gene with early generalized epilepsy phenotypes von Mulhern, Maureen S., Stumpel, Constance, Stong, Nicholas, Brunner, Han G., Bier, Louise, Lippa, Natalie, Riviello, James, Rouhl, Rob P. W., Kempers, Marlies, Pfundt, Rolph, Stegmann, Alexander P. A., Kukolich, Mary K., Telegrafi, Aida, Lehman, Anna, Lopez‐Rangel, Elena, Houcinat, Nada, Barth, Magalie, den Hollander, Nicolette, Hoffer, Mariette J. V., Weckhuysen, Sarah, Roovers, Jolien, Djemie, Tania, Barca, Diana, Ceulemans, Berten, Craiu, Dana, Lemke, Johannes R., Korff, Christian, Mefford, Heather C., Meyers, Candace T., Siegler, Zsuzsanna, Hiatt, Susan M., Cooper, Gregory M., Bebin, E. Martina, Snijders Blok, Lot, Veenstra‐Knol, Hermine E., Baugh, Evan H., Brilstra, Eva H., Volker‐Touw, Catharina M. L., van Binsbergen, Ellen, Revah‐Politi, Anya, Pereira, Elaine, McBrian, Danielle, Pacault, Mathilde, Isidor, Bertrand, Le Caignec, Cedric, Gilbert‐Dussardier, Brigitte, Bilan, Frederic, Heinzen, Erin L., Goldstein, David B., Stevens, Servi J. C., Sands, Tristan T.

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3′ UTR Deletion of IFBXO28/I in a Patient with Brain Abnormalities and Developmental Delay von Bi, Xin, Mulhern, Maureen S, Spiegel, Erica, Wapner, Ronald J, Levy, Brynn, Bain, Jennifer M, Liao, Jun

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De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies von Stegmann, Jil D., Kalanithy, Jeshurun C., Dworschak, Gabriel C., Ishorst, Nina, Mingardo, Enrico, Lopes, Filipa M., Ho, Yee Mang, Grote, Phillip, Lindenberg, Tobias T., Yilmaz, Öznur, Channab, Khadija, Seltzsam, Steve, Shril, Shirlee, Hildebrandt, Friedhelm, Boschann, Felix, Heinen, André, Jolly, Angad, Myers, Katherine, McBride, Kim, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Scala, Marcello, Morleo, Manuela, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Capra, Valeria, Accogli, Andrea, Maitz, Silvia, Spano, Alice, Olson, Rory J., Klee, Eric W., Lanpher, Brendan C., Jang, Se Song, Chae, Jong-Hee, Steinbauer, Philipp, Rieder, Dietmar, Janecke, Andreas R., Vodopiutz, Julia, Vogel, Ida, Blechingberg, Jenny, Cohen, Jennifer L., Riley, Kacie, Klee, Victoria, Walsh, Laurence E., Begemann, Matthias, Elbracht, Miriam, Eggermann, Thomas, Stoppe, Arzu, Stuurman, Kyra, van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Mulhern, Maureen S., Sands, Tristan T., Cytrynbaum, Cheryl, Weksberg, Rosanna, Isidori, Federica, Pippucci, Tommaso, Severi, Giulia, Montanari, Francesca, Kruer, Michael C., Bakhtiari, Somayeh, Darvish, Hossein, Reutter, Heiko, Hagelueken, Gregor, Geyer, Matthias, Woolf, Adrian S., Posey, Jennifer E., Lupski, James R., Odermatt, Benjamin, Hilger, Alina C.

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3' UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay von Bi, Xin, Mulhern, Maureen S, Spiegel, Erica, Wapner, Ronald J, Levy, Brynn, Bain, Jennifer M, Liao, Jun

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Genetic testing for the epilepsies: A systematic review von Sheidley, Beth R., Malinowski, Jennifer, Bergner, Amanda L., Bier, Louise, Gloss, David S., Mu, Weiyi, Mulhern, Maureen M., Partack, Emily J., Poduri, Annapurna

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Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder von Mahjani, Behrang, De Rubeis, Silvia, Gustavsson Mahjani, Christina, Mulhern, Maureen, Xu, Xinyi, Klei, Lambertus, Satterstrom, F. Kyle, Fu, Jack, Talkowski, Michael E., Reichenberg, Abraham, Sandin, Sven, Hultman, Christina M., Grice, Dorothy E., Roeder, Kathryn, Devlin, Bernie, Buxbaum, Joseph D.

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P834: A genetic counselors watchlist: Framework for gene discovery von Lippa, Natalie, Bier, Louise, Mulhern, Maureen, Hemati, Parisa, May, Halie, Florido, Michelle, Kushary, Sulagna Tina, Vena, Natalie, Revah-Politi, Anya

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Patients’ Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers von Mulhern, Maureen, Bier, Louise, Alcalay, Roy N., Balwani, Manisha

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5.45 RECURRENT AND LARGE COPY NUMBER VARIATION IN OCD RISK: RESULTS FROM THE EGOS STUDY von Grice, Dorothy E., Buxbaum, Joseph D., Devlin, Bernie, De Rubeis, Silvia, M Hultman, Christina, Klei, Lambertus, Mahjani, Behrang, Sandin, Sven, Mulhern, Maureen, Xu, Xinyi

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice von Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Da Silva, Renata Pellegrino, Li, Dong, March, Michael, Diaz-Rosado, Abdias, de Barcelos, Isabella Peixoto, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Joset, Pascal, Steindl, Katharina, Rauch, Anita

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Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice von Sheppard, Sarah E, Bryant, Laura, Wickramasekara, Rochelle N, Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J, Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, Jr, John M, Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F, Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez Del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M, Tan, Tiong Yang

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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish von Patterson, Victoria, Ullah, Farid, Bryant, Laura, Griffin, John N, Sidhu, Alpa, Saliganan, Sheila, Blaile, Mackenzie, Saenz, Margarita S, Smith, Rosemarie, Ellingwood, Sara, Grange, Dorothy K, Hu, Xuyun, Mireguli, Maimaiti, Luo, Yanfei, Shen, Yiping, Mulhern, Maureen, Zackai, Elaine, Ritter, Alyssa, Izumi, Kosaki, Hoefele, Julia, Wagner, Matias, Riedhammer, Korbinian M, Seitz, Barbara, Robin, Nathaniel H, Goodloe, Dana, Mignot, Cyril, Keren, Boris, Cox, Helen, Jarvis, Joanna, Hempel, Maja, Gibson, Cynthia Forster, Tran Mau-Them, Frederic, Vitobello, Antonio, Bruel, Ange-Line, Sorlin, Arthur, Mehta, Sarju, Raymond, F Lucy, Gilmore, Kelly, Powell, Bradford C, Weck, Karen, Li, Chumei, Vulto-van Silfhout, Anneke T, Giacomini, Thea, Mancardi, Maria Margherita, Accogli, Andrea, Salpietro, Vincenzo, Zara, Federico, Vora, Neeta L, Davis, Erica E, Burdine, Rebecca, Bhoj, Elizabeth

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