Resultats de la cerca - Chan, Ada
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Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots per Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada J. S., Albanna, Ammar, Minassian, Berge, Boelman, Cyrus, Scherer, Stephen W.
Publicat 2018Text -
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Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants per Chan, Ada J. S., Cytrynbaum, Cheryl, Hoang, Ny, Ambrozewicz, Patricia M., Weksberg, Rosanna, Drmic, Irene, Ritzema, Anne, Schachar, Russell, Walker, Susan, Uddin, Mohammed, Zarrei, Mehdi, Yuen, Ryan K. C., Scherer, Stephen W.
Publicat 2019Text -
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A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data per Trost, Brett, Walker, Susan, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Sung, Wilson W.L., Pereira, Sergio L., Whitney, Joe, Chan, Ada J.S., Pellecchia, Giovanna, Reuter, Miriam S., Lok, Si, Yuen, Ryan K.C., Marshall, Christian R., Merico, Daniele, Scherer, Stephen W.
Publicat 2018Text -
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Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes per Uddin, Mohammed, Woodbury-Smith, Marc, Chan, Ada, Brunga, Ledia, Lamoureux, Sylvia, Pellecchia, Giovanna, Yuen, Ryan K.C., Faheem, Muhammad, Stavropoulos, Dimitri J., Drake, James, Hahn, Cecil D., Hawkins, Cynthia, Shlien, Adam, Marshall, Christian R., Turner, Lesley A., Minassian, Berge A., Scherer, Stephen W., Boelman, Cyrus
Publicat 2017Text -
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Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay per Uddin, Mohammed, Pellecchia, Giovanna, Thiruvahindrapuram, Bhooma, D’Abate, Lia, Merico, Daniele, Chan, Ada, Zarrei, Mehdi, Tammimies, Kristiina, Walker, Susan, Gazzellone, Matthew J., Nalpathamkalam, Thomas, Yuen, Ryan K. C., Devriendt, Koenraad, Mathonnet, Géraldine, Lemyre, Emmanuelle, Nizard, Sonia, Shago, Mary, Joseph-George, Ann M., Noor, Abdul, Carter, Melissa T., Yoon, Grace, Kannu, Peter, Tihy, Frédérique, Thorland, Erik C., Marshall, Christian R., Buchanan, Janet A., Speevak, Marsha, Stavropoulos, Dimitri J., Scherer, Stephen W.
Publicat 2016Text -
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Genome-wide characteristics of de novo mutations in autism per Yuen, Ryan KC, Merico, Daniele, Cao, Hongzhi, Pellecchia, Giovanna, Alipanahi, Babak, Thiruvahindrapuram, Bhooma, Tong, Xin, Sun, Yuhui, Cao, Dandan, Zhang, Tao, Wu, Xueli, Jin, Xin, Zhou, Ze, Liu, Xiaomin, Nalpathamkalam, Thomas, Walker, Susan, Howe, Jennifer L, Wang, Zhuozhi, MacDonald, Jeffrey R, Chan, Ada JS, D’Abate, Lia, Deneault, Eric, Siu, Michelle T, Tammimies, Kristiina, Uddin, Mohammed, Zarrei, Mehdi, Wang, Mingbang, Li, Yingrui, Wang, Jun, Wang, Jian, Yang, Huanming, Bookman, Matt, Bingham, Jonathan, Gross, Samuel S, Loy, Dion, Pletcher, Mathew, Marshall, Christian R, Anagnostou, Evdokia, Zwaigenbaum, Lonnie, Weksberg, Rosanna, Fernandez, Bridget A, Roberts, Wendy, Szatmari, Peter, Glazer, David, Frey, Brendan J, Ring, Robert H, Xu, Xun, Scherer, Stephen W
Publicat 2016Text -
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A large data resource of genomic copy number variation across neurodevelopmental disorders per Zarrei, Mehdi, Burton, Christie L., Engchuan, Worrawat, Young, Edwin J., Higginbotham, Edward J., MacDonald, Jeffrey R., Trost, Brett, Chan, Ada J. S., Walker, Susan, Lamoureux, Sylvia, Heung, Tracy, Mojarad, Bahareh A., Kellam, Barbara, Paton, Tara, Faheem, Muhammad, Miron, Karin, Lu, Chao, Wang, Ting, Samler, Kozue, Wang, Xiaolin, Costain, Gregory, Hoang, Ny, Pellecchia, Giovanna, Wei, John, Patel, Rohan V., Thiruvahindrapuram, Bhooma, Roifman, Maian, Merico, Daniele, Goodale, Tara, Drmic, Irene, Speevak, Marsha, Howe, Jennifer L., Yuen, Ryan K. C., Buchanan, Janet A., Vorstman, Jacob A. S., Marshall, Christian R., Wintle, Richard F., Rosenberg, David R., Hanna, Gregory L., Woodbury-Smith, Marc, Cytrynbaum, Cheryl, Zwaigenbaum, Lonnie, Elsabbagh, Mayada, Flanagan, Janine, Fernandez, Bridget A., Carter, Melissa T., Szatmari, Peter, Roberts, Wendy, Lerch, Jason, Liu, Xudong, Nicolson, Rob, Georgiades, Stelios, Weksberg, Rosanna, Arnold, Paul D., Bassett, Anne S., Crosbie, Jennifer, Schachar, Russell, Stavropoulos, Dimitri J., Anagnostou, Evdokia, Scherer, Stephen W.
Publicat 2019Text -
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Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder per Yuen, Ryan KC, Merico, Daniele, Bookman, Matt, Howe, Jennifer L, Thiruvahindrapuram, Bhooma, Patel, Rohan V, Whitney, Joe, Deflaux, Nicole, Bingham, Jonathan, Wang, Zhuozhi, Pellecchia, Giovanna, Buchanan, Janet A, Walker, Susan, Marshall, Christian R, Uddin, Mohammed, Zarrei, Mehdi, Deneault, Eric, D’Abate, Lia, Chan, Ada JS, Koyanagi, Stephanie, Paton, Tara, Pereira, Sergio L, Hoang, Ny, Engchuan, Worrawat, Higginbotham, Edward J, Ho, Karen, Lamoureux, Sylvia, Li, Weili, MacDonald, Jeffrey R, Nalpathamkalam, Thomas, Sung, Wilson WL, Tsoi, Fiona J, Wei, John, Xu, Lizhen, Tasse, Anne-Marie, Kirby, Emily, Van Etten, William, Twigger, Simon, Roberts, Wendy, Drmic, Irene, Jilderda, Sanne, Modi, Bonnie MacKinnon, Kellam, Barbara, Szego, Michael, Cytrynbaum, Cheryl, Weksberg, Rosanna, Zwaigenbaum, Lonnie, Woodbury-Smith, Marc, Brian, Jessica, Senman, Lili, Iaboni, Alana, Doyle-Thomas, Krissy, Thompson, Ann, Chrysler, Christina, Leef, Jonathan, Savion-Lemieux, Tal, Smith, Isabel M, Liu, Xudong, Nicolson, Rob, Seifer, Vicki, Fedele, Angie, Cook, Edwin H, Dager, Stephen, Estes, Annette, Gallagher, Louise, Malow, Beth A, Parr, Jeremy R, Spence, Sarah J, Vorstman, Jacob, Frey, Brendan J, Robinson, James T, Strug, Lisa J, Fernandez, Bridget A, Elsabbagh, Mayada, Carter, Melissa T, Hallmayer, Joachim, Knoppers, Bartha M, Anagnostou, Evdokia, Szatmari, Peter, Ring, Robert H, Glazer, David, Pletcher, Mathew T, Scherer, Stephen W
Publicat 2017Text