Výsledky vyhledávání - Stortchevoi, Alexei
- Zobrazuji výsledky 1 - 15 z 15
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A Novel Microduplication of ARID1B: Clinical, Genetic and Proteomic Findings Autor Seabra, Catarina M., Szoko, Nicholas, Erdin, Serkan, Ragavendran, Ashok, Stortchevoi, Alexei, Maciel, Patrícia, Lundberg, Kathleen, Schlatzer, Daniela, Smith, Janice, Talkowski, Michael E., Gusella, James F., Natowicz, Marvin R.
Vydáno 2017Text -
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WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4 Autor Hennig, Krista M., Fass, Daniel M., Zhao, Wen-Ning, Sheridan, Steven D., Fu, Ting, Erdin, Serkan, Stortchevoi, Alexei, Lucente, Diane, Cody, Jannine D., Sweetser, David, Gusella, James F., Talkowski, Michael E., Haggarty, Stephen J.
Vydáno 2017Text -
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Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage. Autor Morini, Elisabetta, Gao, Dadi, Logan, Emily M., Salani, Monica, Krauson, Aram J., Chekuri, Anil, Chen, Yei-Tsung, Ragavendran, Ashok, Chakravarty, Probir, Erdin, Serkan, Stortchevoi, Alexei, Svejstrup, Jesper Q., Talkowski, Michael E., Slaugenhaupt, Susan A.
Vydáno 2022Text -
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Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR Autor Tai, Derek J. C., Ragavendran, Ashok, Manavalan, Poornima, Stortchevoi, Alexei, Seabra, Catarina M., Erdin, Serkan, Collins, Ryan L., Blumenthal, Ian, Chen, Xiaoli, Shen, Yiping, Sahin, Mustafa, Zhang, Chengsheng, Lee, Charles, Gusella, James F., Talkowski, Michael E.
Vydáno 2016Text -
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Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice Autor Kovalenko, Marina, Erdin, Serkan, Andrew, Marissa A, St Claire, Jason, Shaughnessey, Melissa, Hubert, Leroy, Neto, João Luís, Stortchevoi, Alexei, Fass, Daniel M, Mouro Pinto, Ricardo, Haggarty, Stephen J, Wilson, John H, Talkowski, Michael E, Wheeler, Vanessa C
Vydáno 2020Text -
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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors Autor Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D., Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J., Katsanis, Nicholas, Gusella, James F., Talkowski, Michael E.
Vydáno 2014Text -
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Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons Autor Seabra, Catarina M., Aneichyk, Tatsiana, Erdin, Serkan, Tai, Derek J. C., De Esch, Celine E. F., Razaz, Parisa, An, Yu, Manavalan, Poornima, Ragavendran, Ashok, Stortchevoi, Alexei, Abad, Clemer, Young, Juan I., Maciel, Patricia, Talkowski, Michael E., Gusella, James F.
Vydáno 2020Text -
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Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9 Autor Mandal, Pankaj K., Ferreira, Leonardo M. R., Collins, Ryan, Meissner, Torsten B., Boutwell, Christian L., Friesen, Max, Vrbanac, Vladimir, Garrison, Brian S., Stortchevoi, Alexei, Bryder, David, Musunuru, Kiran, Brand, Harrison, Tager, Andrew M., Allen, Todd M., Talkowski, Michael E., Rossi, Derrick J., Cowan, Chad A.
Vydáno 2014Text -
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Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome Autor Collins, Ryan L., Brand, Harrison, Redin, Claire E., Hanscom, Carrie, Antolik, Caroline, Stone, Matthew R., Glessner, Joseph T., Mason, Tamara, Pregno, Giulia, Dorrani, Naghmeh, Mandrile, Giorgia, Giachino, Daniela, Perrin, Danielle, Walsh, Cole, Cipicchio, Michelle, Costello, Maura, Stortchevoi, Alexei, An, Joon-Yong, Currall, Benjamin B., Seabra, Catarina M., Ragavendran, Ashok, Margolin, Lauren, Martinez-Agosto, Julian A., Lucente, Diane, Levy, Brynn, Sanders, Stephan J., Wapner, Ronald J., Quintero-Rivera, Fabiola, Kloosterman, Wigard, Talkowski, Michael E.
Vydáno 2017Text -
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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly Autor Aneichyk, Tatsiana, Hendriks, William T., Yadav, Rachita, Shin, David, Gao, Dadi, Vaine, Christine A., Collins, Ryan L., Domingo, Aloysius, Currall, Benjamin, Stortchevoi, Alexei, Multhaupt-Buell, Trisha, Penney, Ellen B., Cruz, Lilian, Dhakal, Jyotsna, Brand, Harrison, Hanscom, Carrie, Antolik, Caroline, Dy, Marisela, Ragavendran, Ashok, Underwood, Jason, Cantsilieris, Stuart, Munson, Katherine M., Eichler, Evan E., Acuña, Patrick, Go, Criscely, Jamora, R. Dominic G., Rosales, Raymond L., Church, Deanna M., Williams, Stephen R., Garcia, Sarah, Klein, Christine, Müller, Ulrich, Wilhelmsen, Kirk C., Marc Timmers, H. T., Sapir, Yechiam, Wainger, Brian J., Henderson, Daniel, Ito, Naoto, Weisenfeld, Neil, Jaffe, David, Sharma, Nutan, Breakefield, Xandra O., Ozelius, Laurie J., Bragg, D. Cristopher, Talkowski, Michael E.
Vydáno 2018Text -
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome Autor Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E
Vydáno 2017Text