Хайлтын үр дүнгүүд - Robert Huether

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  1. 1
    Mutations in RASA1 and GDF2 identified in patients with clinical features of hereditary hemorrhagic telangiectasia

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

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens

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

    Хэвлэсэн 2020
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    Artigo
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  3. 3
    Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes

    Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes -н Tina Pesaran, Rachid Karam, Robert Huether, S. Li, Suzette Farber-Katz, Adam Chamberlin, Hansook Kim Chong, Holly LaDuca, Aaron Elliott

    Хэвлэсэн 2016
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    Revisão
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  4. 4
    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing

    Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing -н Hsiao‐Mei Lu, Shuwei Li, Mary Helen Black, Shela Lee, Robert Hoiness, Sitao Wu, Wenbo Mu, Robert Huether, Jefferey Chen, Srijani Sridhar, Yuan Tian, Rachel McFarland, Jill S. Dolinsky, Brigette Tippin Davis, Sharon Mexal, Charles Dunlop, Aaron Elliott

    Хэвлэсэн 2018
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    Artigo
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  5. 5
    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

    Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel -н Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S. Hruska, Helio A. Costa, Katherine Lachlan, Joanne Ngeow, Jill S. Barnholtz‐Sloan, Kaitlin Sesock, Felicia Hernandez, Liying Zhang, Laura V. Milko, Sharon E. Plon, Madhuri Hegde, Charis Eng

    Хэвлэсэн 2018
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    Artigo
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  6. 6
    Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

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

    Хэвлэсэн 2017
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    Artigo
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  7. 7
    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

    Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases -н Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, Erica D. Smith, Kelly Radtke, Layla Shahmirzadi, Dima El‐Khechen, Zöe Powis, Elizabeth Chao, Wendy Alcaraz, Katherine L. Helbig, Samin A. Sajan, Mari Rossi, Hsiao‐Mei Lu, Robert Huether, Shuwei Li, Sitao Wu, Mark E. Nuñes, Sha Tang

    Хэвлэсэн 2016
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    Artigo
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  8. 8
    PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia

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

    Хэвлэсэн 2015
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    Artigo
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  9. 9
    Clinical validation of the tempus xT next-generation targeted oncology sequencing assay

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

    Хэвлэсэн 2019
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    Artigo
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  10. 10
    Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas

    Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas -н Gang Wu, Alberto Broniscer, Troy A. McEachron, Charles Lu, Barbara S. Paugh, Jared Becksfort, Chunxu Qu, Li Ding, Robert Huether, Matthew Parker, Junyuan Zhang, Amar Gajjar, Michael A. Dyer, Charles G. Mullighan, Richard J. Gilbertson, Elaine R. Mardis, Richard K. Wilson, James R. Downing, David W. Ellison, Jinghui Zhang, Suzanne J. Baker

    Хэвлэсэн 2012
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    Artigo
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  11. 11
    A recurrent mutation in <i>KCNA2</i> as a novel cause of hereditary spastic paraplegia and ataxia

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

    Хэвлэсэн 2016
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    Artigo
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  12. 12
    Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variants

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

    Хэвлэсэн 2020
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    Artigo
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  13. 13
    RB1 gene inactivation by chromothripsis in human retinoblastoma

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

    Хэвлэсэн 2014
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    Artigo
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  14. 14
    Clinical validation of the Tempus xO assay

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

    Хэвлэсэн 2018
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    Artigo
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  15. 15
    Global chromatin profiling reveals NSD2 mutations in pediatric acute lymphoblastic leukemia

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

    Хэвлэсэн 2013
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    Artigo
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  16. 16
    Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours

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

    Хэвлэсэн 2018
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    Artigo
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  17. 17
    The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes

    The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes -н Robert Huether, Li Dong, Xiang Chen, Gang Wu, Matthew Parker, Lei Wei, Jing Ma, Michael N. Edmonson, Erin Hedlund, Michael Rusch, Sheila Shurtleff, Heather L. Mulder, Kristy Boggs, Bhavin Vadordaria, Jinjun Cheng, Donald Yergeau, Guangchun Song, Jared Becksfort, Gordon Lemmon, Catherine E. Forrest Weber, Zhongling Cai, Jinjun Dang, Michael F. Walsh, Amanda Larson Gedman, Zachary Faber, John Easton, Tanja A. Grüber, Richard W. Kriwacki, Janet F. Partridge, Li Ding, Richard K. Wilson, Elaine R. Mardis, Charles G. Mullighan, Richard J. Gilbertson, Suzanne J. Baker, Gerard P. Zambetti, David W. Ellison, Jinghui Zhang, James R. Downing

    Хэвлэсэн 2014
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    Artigo
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  18. 18
    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

    Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy -н Gabrielle Rudolf, Gaëtan Lesca, Mana M. Mehrjouy, Audrey Labalme, Manal Salmi, Iben Bache, Nadine Bruneau, Manuela Pendziwiat, Joël Fluss, Julitta de Bellescize, Julia Scholly, Rikke S. Møller, Dana Craiu, Niels Tommerup, Maria Paola Valenti‐Hirsch, Caroline Schluth–Bolard, Frédérique Sloan‐Béna, Katherine L. Helbig, Sarah Weckhuysen, Patrick Edery, Safia Coulbaut, Mohamed Abbas, Ingrid E. Scheffer, Sha Tang, Candace T. Myers, Hannah Stamberger, Gemma L. Carvill, Deepali N. Shinde, Heather C. Mefford, Elena Neagu, Robert Huether, Hsiao‐Mei Lu, Alice Dica, Julie S. Cohen, Catrinel Iliescu, Cristina Pomeran, James L. Rubenstein, Ingo Helbig, Damien Sanlaville, Édouard Hirsch, Pierre Szepetowski

    Хэвлэсэн 2016
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    Artigo
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  19. 19
    DNM1 encephalopathy: A new disease of vesicle fission.

    DNM1 encephalopathy: A new disease of vesicle fission. -н Sarah von Spiczak, Katherine L. Helbig, Deepali N. Shinde, Robert Huether, Manuela Pendziwiat, Charles Marques Lourenço, Mark E. Nuñes, Dean Sarco, Richard A. Kaplan, Dennis Dlugos, Heidi E. Kirsch, Anne Slavotinek, Maria Roberta Cilio, Mackenzie C. Cervenka, Julie S. Cohen, Rebecca McClellan, Ali Fatemi, Amy Wong Ten Yuen, Yoshimi Sagawa, Rebecca O. Littlejohn, Scott D. McLean, Laura Hernandez‐Hernandez, Bridget H. Maher, Rikke S. Møller, Elizabeth E. Palmer, John A. Lawson, Colleen A. Campbell, Charuta Joshi, Diana L. Kolbe, Georgie Hollingsworth, Bernd A. Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E. Scheffer, Sérgio D.J. Pena, Sanjay M. Sisodiya, Ingo Helbig

    Хэвлэсэн 2017
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    Artigo
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  20. 20
    C11orf95–RELA fusions drive oncogenic NF-κB signalling in ependymoma

    C11orf95–RELA fusions drive oncogenic NF-κB signalling in ependymoma -н Matthew Parker, Kumarasamypet M. Mohankumar, Chandanamali Punchihewa, Ricardo Weinlich, James Dalton, Yongjin Li, Ryan P. Lee, Ruth Tatevossian, Timothy N. Phoenix, Radhika Thiruvenkatam, Elsie White, Bo Tang, Wilda Orisme, Kirti Gupta, Michael Rusch, Xiang Chen, Yuxin Li, Panduka Nagahawhatte, Erin Hedlund, David Finkelstein, Gang Wu, Sheila Shurtleff, John Easton, Kristy Boggs, Donald Yergeau, Bhavin Vadodaria, Heather L. Mulder, Jared Becksfort, Pankaj Gupta, Robert Huether, Jing Ma, Guangchun Song, Amar Gajjar, Thomas E. Merchant, Frederick A. Boop, Amy Smith, Li Ding, Charles Lu, Kerri Ochoa, David Zhao, Robert S. Fulton, Lucinda Fulton, Elaine R. Mardis, Richard K. Wilson, James R. Downing, Douglas R. Green, Jinghui Zhang, David W. Ellison, Richard J. Gilbertson

    Хэвлэсэн 2014
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    Artigo
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