检索结果 - Huether, Robert

The short-chain oxidoreductase Q9HYA2 from Pseudomonas aeruginosa PAO1 contains an atypical catalytic center 由 Huether, Robert, Mao, Qilong, Duax, William L, Umland, Timothy C

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Determining Structure and Function of Steroid Dehydrogenase Enzymes by Sequence Analysis, Homology Modeling, and Rational Mutational Analysis 由 DUAX, WILLIAM L., THOMAS, JAMES, PLETNEV, VLADIMIR, ADDLAGATTA, ANTHONY, HUETHER, ROBERT, HABEGGER, LUKAS, WEEKS, CHARLES M.

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Structure/function of human type 1 3β-hydroxysteroid dehydrogenase: an intrasubunit disulfide bond in the Rossmann-fold domain and a Cys residue in the active site are critical for... 由 Thomas, James L., Huether, Robert, Mack, Vance L., Scaccia, Launa A., Stoner, Ryan C., Duax, William L.

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Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens 由 Parikh, Kaushal, Huether, Robert, White, Kevin, Hoskinson, Derick, Beaubier, Nike, Dong, Haidong, Adjei, Alex A., Mansfield, Aaron S.

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Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia 由 Hernandez, Felicia, Huether, Robert, Carter, Lester, Johnston, Tami, Thompson, Jennifer, Gossage, James R, Chao, Elizabeth, Elliott, Aaron M

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Survival analysis of infected mice reveals pathogenic variations in the genome of avian H1N1 viruses 由 Koçer, Zeynep A., Fan, Yiping, Huether, Robert, Obenauer, John, Webby, Richard J., Zhang, Jinghui, Webster, Robert G., Wu, Gang

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Gene-Specific Criteria for PTEN Variant Curation: Recommendations from the ClinGen PTEN Expert Panel 由 Mester, Jessica L., Ghosh, Rajarshi, Pesaran, Tina, Huether, Robert, Karam, Rachid, Hruska, Kathleen S., Costa, Helio A., Lachlan, Katherine, Ngeow, Joanne, Barnholtz-Sloan, Jill, Sesock, Kaitlin, Hernandez, Felicia, Zhang, Liying, Milko, Laura, Plon, Sharon E., Hegde, Madhuri, Eng, Charis

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Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing 由 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

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Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer 由 Couch, Fergus J., Shimelis, Hermela, Hu, Chunling, Hart, Steven N., Polley, Eric C., Na, Jie, Hallberg, Emily, Moore, Raymond, Thomas, Abigail, Lilyquist, Jenna, Feng, Bingjian, McFarland, Rachel, Pesaran, Tina, Huether, Robert, LaDuca, Holly, Chao, Elizabeth C., Goldgar, David E., Dolinsky, Jill S.

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Clinical validation of the tempus xT next-generation targeted oncology sequencing assay 由 Beaubier, Nike, Tell, Robert, Lau, Denise, Parsons, Jerod R., Bush, Stephen, Perera, Jason, Sorrells, Shelly, Baker, Timothy, Chang, Alan, Michuda, Jackson, Iguartua, Catherine, MacNeil, Shelley, Shah, Kaanan, Ellis, Philip, Yeatts, Kimberly, Mahon, Brett, Taxter, Timothy, Bontrager, Martin, Khan, Aly, Huether, Robert, Lefkofsky, Eric, White, Kevin P.

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Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases 由 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

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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 由 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

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PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia 由 Dang, Jinjun, Wei, Lei, de Ridder, Jeroen, Su, Xiaoping, Rust, Alistair G., Roberts, Kathryn G., Payne-Turner, Debbie, Cheng, Jinjun, Ma, Jing, Qu, Chunxu, Wu, Gang, Song, Guangchun, Huether, Robert G., Schulman, Brenda, Janke, Laura, Zhang, Jinghui, Downing, James R., van der Weyden, Louise, Adams, David J., Mullighan, Charles G.

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Somatic Histone H3 Alterations in Paediatric Diffuse Intrinsic Pontine Gliomas and Non-Brainstem Glioblastomas 由 Wu, Gang, Broniscer, Alberto, McEachron, Troy A, Lu, Charles, Paugh, Barbara S, Becksfort, Jared, Qu, Chunxu, Ding, Li, Huether, Robert, Parker, Matthew, Zhang, Junyuan, Gajjar, Amar, Dyer, Michael A, Mullighan, Charles G, Gilbertson, Richard J, Mardis, Elaine R., Wilson, Richard K., Downing, James R, Ellison, David W, Zhang, Jinghui, Baker, Suzanne J

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A recurrent mutation in KCNA2 as a novel cause of hereditary spastic paraplegia and ataxia 由 Helbig, Katherine L., Hedrich, Ulrike B.S., Shinde, Deepali N., Krey, Ilona, Teichmann, Anne‐Christin, Hentschel, Julia, Schubert, Julian, Chamberlin, Adam C., Huether, Robert, Lu, Hsiao‐Mei, Alcaraz, Wendy A., Tang, Sha, Jungbluth, Chelsy, Dugan, Sarah L., Vainionpää, Leena, Karle, Kathrin N., Synofzik, Matthis, Schöls, Ludger, Schüle, Rebecca, Lehesjoki, Anna‐Elina, Helbig, Ingo, Lerche, Holger, Lemke, Johannes R.

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Clinical validation of the Tempus xO assay 由 Beaubier, Nike, Tell, Robert, Huether, Robert, Bontrager, Martin, Bush, Stephen, Parsons, Jerod, Shah, Kaanan, Baker, Tim, Selkov, Gene, Taxter, Tim, Thomas, Amber, Bettis, Sam, Khan, Aly, Lau, Denise, Lee, Christina, Barber, Matthew, Cieslik, Marcin, Frankenberger, Casey, Franzen, Amy, Weiner, Ali, Palmer, Gary, Lonigro, Robert, Robinson, Dan, Wu, Yi-Mi, Cao, Xuhong, Lefkofsky, Eric, Chinnaiyan, Arul, White, Kevin P.

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RB1 gene inactivation by chromothripsis in human retinoblastoma 由 McEvoy, Justina, Nagahawatte, Panduka, Finkelstein, David, Richards-Yutz, Jennifer, Valentine, Marcus, Ma, Jing, Mullighan, Charles, Song, Guangchun, Chen, Xiang, Wilson, Matthew, Brennan, Rachel, Pounds, Stanley, Becksfort, Jared, Huether, Robert, Lu, Charles, Fulton, Robert S, Fulton, Lucinda L, Hong, Xin, Dooling, David J, Ochoa, Kerri, Mardis, Elaine R, Wilson, Richard K., Easton, John, Zhang, Jinghui, Downing, James R., Ganguly, Arupa, Dyer, Michael A

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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants 由 Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L., de Andrade, Kelvin C., Attardi, Laura D., Crowley, Stephanie, Evans, D. Gareth, Feng, Bing-Jian, Major Foreman, Ann Katherine, Frone, Megan N., Huether, Robert, James, Paul A., McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A., Slavin, Thomas P., Witkowski, Leora, Zhang, Liying, Plon, Sharon E., Spurdle, Amanda B., Savage, Sharon A.

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Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia 由 Jaffe, Jacob D, Wang, Yan, Chan, Ho Man, Zhang, Jinghui, Huether, Robert, Kryukov, Gregory V, Bhang, Hyo-eun C, Taylor, Jordan E, Hu, Min, Englund, Nathan P, Yan, Feng, Wang, Zhaofu, McDonald, E Robert, Wei, Lei, Ma, Jing, Easton, John, Yu, Zhengtian, deBeaumount, Rosalie, Gibaja, Veronica, Venkatesan, Kavitha, Schlegel, Robert, Sellers, William R, Keen, Nicholas, Liu, Jun, Caponigro, Giordano, Barretina, Jordi, Cooke, Vesselina G, Mullighan, Charles, Carr, Steven A, Downing, James R, Garraway, Levi A, Stegmeier, Frank

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Pan-cancer genome and transcriptome analyses of 1,699 pediatric leukemias and solid tumors 由 Ma, Xiaotu, Liu, Yu, Liu, Yanling, Alexandrov, Ludmil B, Edmonson, Michael N., Gawad, Charles, Zhou, Xin, Li, Yongjin, Rusch, Michael C., Easton, John, Huether, Robert, Gonzalez-Pena, Veronica, Wilkinson, Mark R., Hermida, Leandro C., Davis, Sean, Sioson, Edgar, Pounds, Stanley, Cao, Xueyuan, Ries, Rhonda E., Wang, Zhaoming, Chen, Xiang, Dong, Li, Diskin, Sharon J., Smith, Malcolm A., Guidry Auvil, Jaime M., Meltzer, Paul S., Lau, Ching C., Perlman, Elizabeth J., Maris, John M., Meshinchi, Soheil, Hunger, Stephen P., Gerhard, Daniela S., Zhang, Jinghui

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