検索結果 - Dustin L. Gable

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  1. 1
    Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma

    Germline Mutations in DNA Repair Genes in Lung Adenocarcinoma 著者: Erin M. Parry, Dustin L. Gable, Susan E. Stanley, Sara E. Khalil, Valentin Antonescu, Liliana Florea, Mary Armanios

    出版事項 2017
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    Artigo
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  2. 2
    <i>ZCCHC8</i>, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation

    <i>ZCCHC8</i>, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation 著者: Dustin L. Gable, Valeriya Gaysinskaya, Christine C. Atik, C. Conover Talbot, Byunghak Kang, Susan E. Stanley, Elizabeth Pugh, Nuria Amat-Codina, Kara M. Schenk, Murat O. Arcasoy, Cory Brayton, Liliana Florea, Mary Armanios

    出版事項 2019
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    Artigo
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  3. 3
    Short telomere syndromes cause a primary T cell immunodeficiency

    Short telomere syndromes cause a primary T cell immunodeficiency 著者: Christa L. Wagner, Vidya Sagar Hanumanthu, C. Conover Talbot, Roshini S. Abraham, David Hamm, Dustin L. Gable, Christopher G. Kanakry, Carolyn Applegate, Janet D. Siliciano, J. Brooks Jackson, Stephen Desiderio, Jonathan K. Alder, Leo Luznik, Mary Armanios

    出版事項 2018
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    Artigo
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  4. 4
    T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers

    T cell immune deficiency rather than chromosome instability predisposes patients with short telomere syndromes to squamous cancers 著者: Kristen E. Schratz, Diane A. Flasch, Christine C. Atik, Zoe L. Cosner, Amanda L. Blackford, Wentao Yang, Dustin L. Gable, Paz J. Vellanki, Zhimin Xiang, Valeriya Gaysinskaya, Robert H. Vonderheide, Lisa Rooper, Jinghui Zhang, Mary Armanios

    出版事項 2023
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    Artigo
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  5. 5
    Familial Clonal Hematopoiesis in a Long Telomere Syndrome

    Familial Clonal Hematopoiesis in a Long Telomere Syndrome 著者: Emily A. DeBoy, Michael G. Tassia, Kristen E. Schratz, Stephanie M. Yan, Zoe L. Cosner, E. McNally, Dustin L. Gable, Zhimin Xiang, David B. Lombard, Emmanuel S. Antonarakis, Christopher D. Gocke, Rajiv C. McCoy, Mary Armanios

    出版事項 2023
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    Artigo
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  6. 6
    Loss-of-function mutations in the RNA biogenesis factor <i>NAF1</i> predispose to pulmonary fibrosis–emphysema

    Loss-of-function mutations in the RNA biogenesis factor <i>NAF1</i> predispose to pulmonary fibrosis–emphysema 著者: Susan E. Stanley, Dustin L. Gable, Christa L. Wagner, Thomas M. Carlile, Vidya Sagar Hanumanthu, Joshua D. Podlevsky, Sara E. Khalil, Amy E. DeZern, María F. Rojas-Durán, Carolyn Applegate, Jonathan K. Alder, Erin M. Parry, Wendy V. Gilbert, Mary Armanios

    出版事項 2016
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    Artigo
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  7. 7
    Mendelian etiologies identified with whole exome sequencing in cerebral palsy

    Mendelian etiologies identified with whole exome sequencing in cerebral palsy 著者: Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David L. Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian D. Snyder, Scellig Stone, Ana Ubeda, Colyn J. Watkins, Charles B. Berde, Jeffrey Bolton, Catherine A. Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O’Donnell‐Luria, Alex R. Paciorkowski, Anna Maria Pinto, John Pugh, Lance H. Rodan, Eugene Roe, Lindsay C. Swanson, Bo Zhang, Michael C. Kruer, Mustafa Şahin, Annapurna Poduri, Siddharth Srivastava

    出版事項 2022
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    Artigo
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