Výsledky vyhledávání - Lu, Hsiao-Mei
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Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes Autor Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.
Vydáno 2014Text -
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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels Autor LaDuca, Holly, Farwell, Kelly D., Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C.
Vydáno 2017Text -
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The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay Autor Chong, Hansook Kim, Wang, Tao, Lu, Hsiao-Mei, Seidler, Sara, Lu, Hong, Keiles, Steven, Chao, Elizabeth C., Stuenkel, A. J., Li, Xiang, Elliott, Aaron M.
Vydáno 2014Text -
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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification Autor Tian, Yuan, Pesaran, Tina, Chamberlin, Adam, Fenwick, R. Bryn, Li, Shuwei, Gau, Chia-Ling, Chao, Elizabeth C., Lu, Hsiao-Mei, Black, Mary Helen, Qian, Dajun
Vydáno 2019Text -
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A Bayesian framework for efficient and accurate variant prediction Autor Qian, Dajun, Li, Shuwei, Tian, Yuan, Clifford, Jacob W., Sarver, Brice A. J., Pesaran, Tina, Gau, Chia-Ling, Elliott, Aaron M., Lu, Hsiao-Mei, Black, Mary Helen
Vydáno 2018Text -
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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing Autor Mu, Wenbo, Li, Bing, Wu, Sitao, Chen, Jefferey, Sain, Divya, Xu, Dong, Black, Mary Helen, Karam, Rachid, Gillespie, Katrina, Farwell Hagman, Kelly D., Guidugli, Lucia, Pronold, Melissa, Elliott, Aaron, Lu, Hsiao-Mei
Vydáno 2018Text -
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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay Autor Farber-Katz, Suzette, Hsuan, Vickie, Wu, Sitao, Landrith, Tyler, Vuong, Huy, Xu, Dong, Li, Bing, Hoo, Jayne, Lam, Stephanie, Nashed, Sarah, Toppmeyer, Deborah, Gray, Phillip, Haynes, Ginger, Lu, Hsiao-Mei, Elliott, Aaron, Tippin Davis, Brigette, Karam, Rachid
Vydáno 2018Text -
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Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing Autor Lu, Hsiao-Mei, Li, Shuwei, Black, Mary Helen, Lee, Shela, Hoiness, Robert, Wu, Sitao, Mu, Wenbo, Huether, Robert, Chen, Jefferey, Sridhar, Srijani, Tian, Yuan, McFarland, Rachel, Dolinsky, Jill, Tippin Davis, Brigette, Mexal, Sharon, Dunlop, Charles, Elliott, Aaron
Vydáno 2018Text -
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Validation of a prostate cancer polygenic risk score Autor Black, Mary H., Li, Shuwei, LaDuca, Holly, Lo, Min‐Tzu, Chen, Jefferey, Hoiness, Robert, Gutierrez, Stephanie, Tippin‐Davis, Brigette, Lu, Hsiao‐Mei, Gielzak, Marta, Wiley, Kathleen, Shi, Zhuqing, Wei, Jun, Zheng, Siqun Lilly, Helfand, Brian T., Isaacs, William, Xu, Jianfeng
Vydáno 2020Text -
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Serial changes in liquid biopsy-derived variant allele frequency predict immune checkpoint inhibitor responsiveness in the pan-cancer setting Autor Kato, Shumei, Li, Bing, Adashek, Jacob J., Cha, Seong Won, Bianchi-Frias, Daniella, Qian, Dajun, Kim, Lisa, so, Tiffany W, Mitchell, Marcus, Kamei, Naoki, Hoiness, Robert, Hoo, Jayne, Gray, Phillip N., Iyama, Teruaki, Kashiwagi, Masahide, Lu, Hsiao-Mei, Kurzrock, Razelle
Vydáno 2022Text -
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Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis Autor Butterfield, Russell J., Stevenson, Tamara J., Xing, Lingyan, Newcomb, Tara M., Nelson, Benjamin, Zeng, Wenqi, Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Farwell Gonzalez, Kelly D., Wei, Jia-Perng, Chao, Elizabeth C., Prior, Thomas W., Snyder, Pamela J., Bonkowsky, Joshua L., Swoboda, Kathryn J.
Vydáno 2014Text -
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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases Autor Farwell Hagman, Kelly D., Shinde, Deepali N., Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C., Alcaraz, Wendy A., Helbig, Katherine L., Sajan, Samin A., Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E., Tang, Sha
Vydáno 2017Text -
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Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases Autor Farwell Hagman, Kelly D, Shinde, Deepali N, Mroske, Cameron, Smith, Erica, Radtke, Kelly, Shahmirzadi, Layla, El-Khechen, Dima, Powis, Zöe, Chao, Elizabeth C, Alcaraz, Wendy A, Helbig, Katherine L, Sajan, Samin A, Rossi, Mari, Lu, Hsiao-Mei, Huether, Robert, Li, Shuwei, Wu, Sitao, Nuñes, Mark E, Tang, Sha
Vydáno 2018Text -
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Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process Autor Salvador, Monalyn U., Truelson, Melissa R.F., Mason, Carla, Souders, Beth, LaDuca, Holly, Dougall, Brittany, Black, Mary Helen, Fulk, Kelly, Profato, Jessica, Gutierrez, Stephanie, Jasperson, Kory, Tippin-Davis, Brigette, Lu, Hsiao-Mei, Gray, Phillip, Shah, Swati, Chao, Elizabeth C., Ghahramani, Negar, Landsverk, Megan, Gau, Chia-Ling, Chen, Daniel, Pronold, Melissa
Vydáno 2019Text