Bilaketaren emaitzak - 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 nork Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.
Argitaratua 2014Text -
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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels nork LaDuca, Holly, Farwell, Kelly D., Vuong, Huy, Lu, Hsiao-Mei, Mu, Wenbo, Shahmirzadi, Layla, Tang, Sha, Chen, Jefferey, Bhide, Shruti, Chao, Elizabeth C.
Argitaratua 2017Text -
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The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay nork 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.
Argitaratua 2014Text -
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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification nork 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
Argitaratua 2019Text -
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Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing nork 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
Argitaratua 2018Text -
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Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay nork 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
Argitaratua 2018Text -
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Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing nork 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
Argitaratua 2018Text -
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Validation of a prostate cancer polygenic risk score nork 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
Argitaratua 2020Text -
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Serial changes in liquid biopsy-derived variant allele frequency predict immune checkpoint inhibitor responsiveness in the pan-cancer setting nork 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
Argitaratua 2022Text -
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Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis nork 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.
Argitaratua 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 nork 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
Argitaratua 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 nork 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
Argitaratua 2018Text -
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Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process nork 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
Argitaratua 2019Text