תוצאות חיפוש - Sweetser, David A
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Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease מאת Walker, Melissa A., Mohler, Kyle P., Hopkins, Kyle W., Oakley, Derek H., Sweetser, David A., Ibba, Michael, Frosch, Matthew P., Thibert, Ronald L.
יצא לאור 2016Text -
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Loss of TLE1 and TLE4 from the del(9q) commonly deleted region in AML cooperates with AML1-ETO to affect myeloid cell proliferation and survival מאת Dayyani, Farshid, Wang, Jianfeng, Yeh, Jing-Ruey J., Ahn, Eun-Young, Tobey, Erica, Zhang, Dong-Er, Bernstein, Irwin D., Peterson, Randall T., Sweetser, David A.
יצא לאור 2008Text -
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FLT3 internal tandem duplication in CD34(+)/CD33(-) precursors predicts poor outcome in acute myeloid leukemia מאת Pollard, Jessica A., Alonzo, Todd A., Gerbing, Robert B., Woods, William G., Lange, Beverly J., Sweetser, David A., Radich, Jerald P., Bernstein, Irwin D., Meshinchi, Soheil
יצא לאור 2006Text -
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AML1-ETO mediates hematopoietic self-renewal and leukemogenesis through a COX/β-catenin signaling pathway מאת Zhang, Yiyun, Wang, Jianfeng, Wheat, Justin, Chen, Xi, Jin, Shan, Sadrzadeh, Hossein, Fathi, Amir T., Peterson, Randall T., Kung, Andrew L., Sweetser, David A., Yeh, Jing-Ruey Joanna
יצא לאור 2013Text -
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Tle1 tumor suppressor negatively regulates inflammation in vivo and modulates NF-κB inflammatory pathway מאת Ramasamy, Selvi, Saez, Borja, Mukhopadhyay, Subhankar, Ding, Daching, Ahmed, Alwiya M., Chen, Xi, Pucci, Ferdinando, Yamin, Rae’e, Wang, Jianfeng, Pittet, Mikael J., Kelleher, Cassandra M., Scadden, David T., Sweetser, David A.
יצא לאור 2016Text -
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Tle corepressors are differentially partitioned to instruct CD8(+) T cell lineage choice and identity מאת Xing, Shaojun, Shao, Peng, Li, Fengyin, Zhao, Xudong, Seo, Wooseok, Wheat, Justin C., Ramasamy, Selvi, Wang, Jianfeng, Li, Xiang, Peng, Weiqun, Yu, Shuyang, Liu, Chengyu, Taniuchi, Ichiro, Sweetser, David A., Xue, Hai-Hui
יצא לאור 2018Text -
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Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias מאת Kim, Woo Jae, Okimoto, Ross A., Purton, Louise E., Goodwin, Meagan, Haserlat, Sara M., Dayyani, Farshid, Sweetser, David A., McClatchey, Andrea I., Bernard, Olivier A., Look, A. Thomas, Bell, Daphne W., Scadden, David T., Haber, Daniel A.
יצא לאור 2008Text -
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia מאת Berko, Esther R, Cho, Megan T, Eng, Christine, Shao, Yunru, Sweetser, David A, Waxler, Jessica, Robin, Nathaniel H, Brewer, Fallon, Donkervoort, Sandra, Mohassel, Payam, Bönnemann, Carsten G, Bialer, Martin, Moore, Christine, Wolfe, Lynne A, Tifft, Cynthia J, Shen, Yufeng, Retterer, Kyle, Millan, Francisca, Chung, Wendy K
יצא לאור 2016Text -
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment מאת Dutta, Debdeep, Briere, Lauren C, Kanca, Oguz, Marcogliese, Paul C, Walker, Melissa A, High, Frances A, Vanderver, Adeline, Krier, Joel, Carmichael, Nikkola, Callahan, Christine, Taft, Ryan J, Simons, Cas, Helman, Guy, Network, Undiagnosed Diseases, Wangler, Michael F, Yamamoto, Shinya, Sweetser, David A, Bellen, Hugo J
יצא לאור 2020Text -
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Missense variants in CTNNB1 can be associated with vitreoretinopathy—Seven new cases of CTNNB1‐associated neurodevelopmental disorder including a previously unreported retinal phen... מאת Rossetti, Linda Z., Bekheirnia, Mir Reza, Lewis, Andrea M., Mefford, Heather C., Golden‐Grant, Katie, Tarczy‐Hornoch, Kristina, Briere, Lauren C., Sweetser, David A., Walker, Melissa A., Kravets, Elijah, Stevenson, David A., Bruenner, Georgette, Sebastian, Jessica, Knapo, Julia, Rosenfeld, Jill A., Marcogliese, Paul C., Wangler, Michael F.
יצא לאור 2020Text -
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A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy מאת Briere, Lauren C., Walker, Melissa A., High, Frances A., Cooper, Cynthia, Rogers, Cassandra A., Callahan, Christine J., Ishimura, Ryosuke, Ichimura, Yoshinobu, Caruso, Paul A., Sharma, Nutan, Brokamp, Elly, Koziura, Mary E., Mohammad, Shekeeb S., Dale, Russell C., Riley, Lisa G., Phillips, John A., Komatsu, Masaaki, Sweetser, David A.
יצא לאור 2021Text -
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Panel-based Genetic Diagnostic Testing for Inherited Eye Diseases is Highly Accurate and Reproducible and More Sensitive for Variant Detection Than Exome Sequencing מאת Consugar, Mark B., Navarro-Gomez, Daniel, Place, Emily M., Bujakowska, Kinga M., Sousa, Maria E., Fonseca-Kelly, Zoë D., Taub, Daniel G., Janessian, Maria, Wang, Dan Yi, Au, Elizabeth D., Sims, Katherine B., Sweetser, David A., Fulton, Anne B., Liu, Qin, Wiggs, Janey L., Gai, Xiaowu, Pierce, Eric A.
יצא לאור 2014Text -
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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region מאת Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Rochtus, Anne, Gramm, Marie, Pérez-Palma, Eduardo, Axeen, Erika Takle, Hung, Christina Y., Olson, Heather, Swanson, Lindsay, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Kayani, Saima, Snyder, Molly, Calvert, Sophie, Scheffer, Ingrid E., Yang, Edward, Waugh, Jeff L., Lal, Dennis, Bodamer, Olaf, Poduri, Annapurna
יצא לאור 2019Text