Arama Sonuçları - Dubbs, Holly

A patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A Yazar: Tian, Guoling, Cristancho, Ana G., Dubbs, Holly A., Liu, Grant T., Cowan, Nicholas J., Goldberg, Ethan M.

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Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III–related leukodystrophy and Feingold syndrome Yazar: Muirhead, Kayla J., Clause, Amanda R., Schlachetzki, Zinayida, Dubbs, Holly, Perry, Denise L., Hagelstrom, R. Tanner, Taft, Ryan J., Vanderver, Adeline

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Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines Yazar: Li, Mindy, Glass, Jennifer, Du, Xiaoli, Dubbs, Holly, Harr, Margaret Horton, Falk, Marni, Smolarek, Teresa, Hopkin, Robert J., Zackai, Elaine, Sheppard, Sarah E.

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Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features Yazar: Tham, Emma, Lindstrand, Anna, Santani, Avni, Malmgren, Helena, Nesbitt, Addie, Dubbs, Holly A., Zackai, Elaine H., Parker, Michael J., Millan, Francisca, Rosenbaum, Kenneth, Wilson, Golder N., Nordgren, Ann

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Late-onset Aicardi Goutières syndrome: a characterization of presenting clinical features Yazar: Piccoli, Cara, Bronner, Nowa, Gavazzi, Francesco, Dubbs, Holly, De Simone, Micaela, De Giorgis, Valentina, Orcesi, Simona, Fazzi, Elisa, Galli, Jessica, Masnada, Silvia, Tonduti, Davide, Varesio, Costanza, Vanderver, Adeline, Vossough, Arastoo, Adang, Laura

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Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy Yazar: Balciuniene, Jorune, DeChene, Elizabeth T., Akgumus, Gozde, Romasko, Edward J., Cao, Kajia, Dubbs, Holly A., Mulchandani, Surabhi, Spinner, Nancy B., Conlin, Laura K., Marsh, Eric D., Goldberg, Ethan, Helbig, Ingo, Sarmady, Mahdi, Abou Tayoun, Ahmad

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Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature Yazar: Cuddapah, Vishnu Anand, Dubbs, Holly A., Adang, Laura, Kugler, Steven L., McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Ortiz-González, Xilma R., McCormack, Shana, Zackai, Elaine, Licht, Daniel J., Falk, Marni J., Marsh, Eric D.

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A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity Yazar: Beck, David B., Subramanian, T., Vijayalingam, S., Ezekiel, Uthayashankar R., Donkervoort, Sandra, Yang, Michele L., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Lakhani, Shenela, Segal, Devorah, Au, Margaret, Graham, John M., Verma, Sumit, Waggoner, Darrel, Shinawi, Marwan, Bönnemann, Carsten G., Chung, Wendy K., Chinnadurai, G.

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Clinical Features of Three Girls With Mosaic Genome-Wide Paternal Uniparental Isodisomy Yazar: Kalish, Jennifer M., Conlin, Laura K., Bhatti, Tricia R., Dubbs, Holly A., Harris, Mary Catherine, Izumi, Kosuke, Mostoufi-Moab, Sogol, Mulchandani, Surabhi, Saitta, Sulagna, States, Lisa J., Swarr, Daniel T., Wilkens, Alisha B., Zackai, Elaine H., Zelley, Kristin, Bartolomei, Marisa S., Nichols, Kim E., Palladino, Andrew A., Spinner, Nancy B., Deardorff, Matthew A.

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Phenotypic and imaging spectrum associated with WDR45 Yazar: Adang, Laura A., Pizzino, Amy, Malhotra, Alka, Dubbs, Holly, Williams, Catherine, Sherbini, Omar, Anttonen, Anna-Kaisa, Lesca, Gaetan, Linnankivi, Tarja, Laurencin, Chloé, Milh, Matthieu, Perrine, Charles, Schaaf, Christian P., Poulat, Anne-Lise, Ville, Dorothee, Hagelstrom, Tanner, Perry, Denise L., Taft, Ryan J., Goldstein, Amy, Vossough, Arastoo, Helbig, Ingo, Vanderver, Adeline

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Janus Kinase Inhibition in the Aicardi–Goutières Syndrome Yazar: Vanderver, Adeline, Adang, Laura, Gavazzi, Francesco, McDonald, Katherine, Helman, Guy, Frank, David B., Jaffe, Nicole, Yum, Sabrina W., Collins, Abigail, Keller, Stephanie R., Lebon, Pierre, Meritet, Jean-François, Rhee, Jullie, Takanohashi, Asako, Armangue, Thais, Ulrick, Nicole, Sherbini, Omar, Koh, Jamie, Peer, Kyle, Besnier, Constance, Scher, Carly, Boyle, Katherine, Dubbs, Holly, Kramer-Golinkoff, Julia, Pizzino, Amy, Woidill, Sarah, Shults, Justine

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Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila Yazar: Straub, Jonas, Konrad, Enrico D.H., Grüner, Johanna, Toutain, Annick, Bok, Levinus A., Cho, Megan T., Crawford, Heather P., Dubbs, Holly, Douglas, Ganka, Jobling, Rebekah, Johnson, Diana, Krock, Bryan, Mikati, Mohamad A., Nesbitt, Addie, Nicolai, Joost, Phillips, Meredith, Poduri, Annapurna, Ortiz-Gonzalez, Xilma R., Powis, Zöe, Santani, Avni, Smith, Lacey, Stegmann, Alexander P.A., Stumpel, Constance, Vreeburg, Maaike, Fliedner, Anna, Gregor, Anne, Sticht, Heinrich, Zweier, Christiane

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Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders Yazar: Vanderver, Adeline, Bernard, Geneviève, Helman, Guy, Sherbini, Omar, Boeck, Ryan, Cohn, Jeffrey, Collins, Abigail, Demarest, Scott, Dobbins, Katherine, Emrick, Lisa, Fraser, Jamie L., Masser-Frye, Diane, Hayward, Jean, Karmarkar, Swati, Keller, Stephanie, Mirrop, Samuel, Mitchell, Wendy, Pathak, Sheel, Sherr, Elliott, van Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, van der Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J.

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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes Yazar: de Kovel, Carolien G. F., Syrbe, Steffen, Brilstra, Eva H., Verbeek, Nienke, Kerr, Bronwyn, Dubbs, Holly, Bayat, Allan, Desai, Sonal, Naidu, Sakkubai, Srivastava, Siddharth, Cagaylan, Hande, Yis, Uluc, Saunders, Carol, Rook, Martin, Plugge, Susanna, Muhle, Hiltrud, Afawi, Zaid, Klein, Karl-Martin, Jayaraman, Vijayakumar, Rajagopalan, Ramakrishnan, Goldberg, Ethan, Marsh, Eric, Kessler, Sudha, Bergqvist, Christina, Conlin, Laura K., Krok, Bryan L., Thiffault, Isabelle, Pendziwiat, Manuela, Helbig, Ingo, Polster, Tilman, Borggraefe, Ingo, Lemke, Johannes R., van den Boogaardt, Marie-José, Møller, Rikke S., Koeleman, Bobby P. C.

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De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder Yazar: Snijders Blok, Lot, Hiatt, Susan M., Bowling, Kevin M., Prokop, Jeremy W., Engel, Krysta L., Cochran, J. Nicholas, Bebin, E. Martina, Bijlsma, Emilia K., Ruivenkamp, Claudia A. L., Terhal, Paulien, Simon, Marleen E. H., Smith, Rosemarie, Hurst, Jane A., McLaughlin, Heather, Person, Richard, Crunk, Amy, Wangler, Michael F., Streff, Haley, Symonds, Joseph D., Zuberi, Sameer M., Elliott, Katherine S., Sanders, Victoria R., Masunga, Abigail, Hopkin, Robert J., Dubbs, Holly A., Ortiz-Gonzalez, Xilma R., Pfundt, Rolph, Brunner, Han G., Fisher, Simon E., Kleefstra, Tjitske, Cooper, Gregory M.

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Mutations in GABRB3: From febrile seizures to epileptic encephalopathies Yazar: Møller, Rikke S., Wuttke, Thomas V., Helbig, Ingo, Marini, Carla, Johannesen, Katrine M., Brilstra, Eva H., Vaher, Ulvi, Borggraefe, Ingo, Talvik, Inga, Talvik, Tiina, Kluger, Gerhard, Francois, Laurence L., Lesca, Gaetan, de Bellescize, Julitta, Blichfeldt, Susanne, Chatron, Nicolas, Holert, Nils, Jacobs, Julia, Swinkels, Marielle, Betzler, Cornelia, Syrbe, Steffen, Nikanorova, Marina, Myers, Candace T., Larsen, Line H.G., Vejzovic, Sabina, Pendziwiat, Manuela, von Spiczak, Sarah, Hopkins, Sarah, Dubbs, Holly, Mang, Yuan, Mukhin, Konstantin, Holthausen, Hans, van Gassen, Koen L., Dahl, Hans A., Tommerup, Niels, Mefford, Heather C., Rubboli, Guido, Guerrini, Renzo, Lemke, Johannes R., Lerche, Holger, Muhle, Hiltrud, Maljevic, Snezana

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A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures Yazar: Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

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PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome Yazar: Nevado, Julián, Rosenfeld, Jill A, Mena, Rocío, Palomares-Bralo, María, Vallespín, Elena, Ángeles Mori, María, Tenorio, Jair A, Gripp, Karen W, Denenberg, Elizabeth, del Campo, Miguel, Plaja, Alberto, Martín-Arenas, Rubén, Santos-Simarro, Fernando, Armengol, Lluis, Gowans, Gordon, Orera, María, Sanchez-Hombre, M Carmen, Corbacho-Fernández, Esther, Fernández-Jaén, Alberto, Haldeman-Englert, Chad, Saitta, Sulagna, Dubbs, Holly, Bénédicte, Duban B, Li, Xia, Devaney, Lani, Dinulos, Mary Beth, Vallee, Stephanie, Crespo, M Carmen, Fernández, Blanca, Fernández-Montaño, Victoria E, Rueda-Arenas, Inmaculada, de Torres, María Luisa, Ellison, Jay W, Raskin, Salmo, Venegas-Vega, Carlos A, Fernández-Ramírez, Fernando, Delicado, Alicia, García-Miñaúr, Sixto, Lapunzina, Pablo

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The CHD4-Related Syndrome: A Comprehensive Investigation of the Clinical Spectrum, Genotype-Phenotype Correlations and Molecular Basis Yazar: Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel, Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Wallen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Vergano, Samantha A. Schrier, Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Feldman, Hagit Baris, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine

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Defining the phenotypic spectrum of SLC6A1 mutations Yazar: Johannesen, Katrine M., Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, de Saint Martin, Anne, Lehesjoki, Anna-Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi-Warde, Marie-Thérèse, Chelly, Jamel, Piton|, Amélie, Merritt, J. Lawrence, Rodan, Lance H., Tan, Wen-Hann, Bird, Lynne M., Nespeca, Mark, Gleeson, Joseph G., Yoo, Yongjin, Choi, Murim, Chae, Jong-Hee, Czapansky-Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S., Schelhaas, Helenius J., Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G., Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E., Pisani, Laura, Myers, Candace T., Tang, Sha, Tang, Shan, Pal, Deb K., Millichap, John J., Carvill, Gemma L., Helbig, Kathrine L., Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C., Møller, Rikke S.

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