Søgeresultater - Sweetser, David A
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Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease af Walker, Melissa A., Mohler, Kyle P., Hopkins, Kyle W., Oakley, Derek H., Sweetser, David A., Ibba, Michael, Frosch, Matthew P., Thibert, Ronald L.
Udgivet 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 af 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.
Udgivet 2008Text -
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FLT3 internal tandem duplication in CD34(+)/CD33(-) precursors predicts poor outcome in acute myeloid leukemia af 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
Udgivet 2006Text -
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AML1-ETO mediates hematopoietic self-renewal and leukemogenesis through a COX/β-catenin signaling pathway af 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
Udgivet 2013Text -
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Tle1 tumor suppressor negatively regulates inflammation in vivo and modulates NF-κB inflammatory pathway af 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.
Udgivet 2016Text -
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Tle corepressors are differentially partitioned to instruct CD8(+) T cell lineage choice and identity af 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
Udgivet 2018Text -
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Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias af 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.
Udgivet 2008Text -
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia af 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
Udgivet 2016Text -
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment af 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
Udgivet 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... af 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.
Udgivet 2020Text -
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A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy af 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.
Udgivet 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 af 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.
Udgivet 2014Text -
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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region af 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
Udgivet 2019Text