Ngā hua rapu - Natasha T. Strande

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  1. 1
    Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing

    Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing mā Natasha T. Strande, Jonathan S. Berg

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Navigating the nuances of clinical sequence variant interpretation in Mendelian disease

    Navigating the nuances of clinical sequence variant interpretation in Mendelian disease mā Natasha T. Strande, Sarah E. Brnich, Tamara S. Roman, Jonathan S. Berg

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    Specificity of the dRP/AP Lyase of Ku Promotes Nonhomologous End Joining (NHEJ) Fidelity at Damaged Ends

    Specificity of the dRP/AP Lyase of Ku Promotes Nonhomologous End Joining (NHEJ) Fidelity at Damaged Ends mā Natasha T. Strande, Steven A. Roberts, Sehyun Oh, Eric A. Hendrickson, Dale A. Ramsden

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Nonhomologous end joining: A good solution for bad ends

    Nonhomologous end joining: A good solution for bad ends mā Crystal A. Waters, Natasha T. Strande, David W. Wyatt, John M. Pryor, Dale A. Ramsden

    I whakaputaina 2014
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  5. 5
    Ku is a 5′-dRP/AP lyase that excises nucleotide damage near broken ends

    Ku is a 5′-dRP/AP lyase that excises nucleotide damage near broken ends mā Steven A. Roberts, Natasha T. Strande, Martin D. Burkhalter, Christina Strom, Jody M. Havener, Paul Hasty, Dale A. Ramsden

    I whakaputaina 2010
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    The Phenotypic Spectrum of COL4A3 Heterozygotes

    The Phenotypic Spectrum of COL4A3 Heterozygotes mā Kaushal Solanki, Yirui Hu, Bryn S. Moore, Vida Abedi, Venkatesh Avula, Tooraj Mirshahi, Natasha T. Strande, Ion D. Bucaloiu, Alex R. Chang

    I whakaputaina 2023
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons

    Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons mā Chaorui Duan, Stephen Rong, Luke Buerer, Christopher R. Neil, Yu Zhong, Zhaohui Lyu, Juliann M. Savatt, Natasha T. Strande, William G. Fairbrother

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    “Possibly positive or certainly uncertain?”: participants’ responses to uncertain diagnostic results from exome sequencing

    “Possibly positive or certainly uncertain?”: participants’ responses to uncertain diagnostic results from exome sequencing mā Debra Skinner, Myra I. Roche, Karen E. Weck, Kelly Raspberry, Ann Katherine M. Foreman, Natasha T. Strande, Jonathan S. Berg, James P. Evans, Gail E. Henderson

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes

    Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes mā Christy L. Rhine, Christopher R. Neil, Jing Wang, Samantha Maguire, Luke Buerer, Mitchell Salomon, Ijeoma C. Meremikwu, Juliana Kim, Natasha T. Strande, William G. Fairbrother

    I whakaputaina 2022
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair

    Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair mā Dylan A. Reid, Sarah Keegan, Alejandra Leo‐Macías, Go Watanabe, Natasha T. Strande, Howard H. Chang, Betül Akgöl Oksuz, David Fenyö, Michael R. Lieber, Dale A. Ramsden, Eli Rothenberg

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining

    The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining mā Crystal A. Waters, Natasha T. Strande, John M. Pryor, Christina Strom, Piotr A. Mieczkowski, Martin D. Burkhalter, Sehyun Oh, Bahjat F. Qaqish, Dominic T. Moore, Eric A. Hendrickson, Dale A. Ramsden

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Increasing the diagnostic yield of exome sequencing by copy number variant analysis

    Increasing the diagnostic yield of exome sequencing by copy number variant analysis mā Daniel S. Marchuk, Kristy Crooks, Natasha T. Strande, Kathleen Kaiser‐Rogers, Laura V. Milko, Alicia Brandt, Alexandra Arreola, Christian R. Tilley, Chris Bizon, Neeta L. Vora, Kirk C. Wilhelmsen, James P. Evans, Jonathan S. Berg

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    An approach to integrating exome sequencing for fetal structural anomalies into clinical practice

    An approach to integrating exome sequencing for fetal structural anomalies into clinical practice mā Neeta L. Vora, Kelly L. Gilmore, Alicia Brandt, Chelsea Gustafson, Natasha T. Strande, Lori Ramkissoon, Emily Hardisty, Ann Katherine M. Foreman, Kirk C. Wilhelmsen, Phillips Owen, Karen E. Weck, Jonathan S. Berg, Cynthia M. Powell, Bradford C. Powell

    I whakaputaina 2020
    Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Genomic Screening at a Single Health System

    Genomic Screening at a Single Health System mā Juliann M. Savatt, Melissa Kelly, Amy C. Sturm, Cara Z. McCormick, Marc S. Williams, Michelle Pistner Nixon, David D.K. Rolston, Natasha T. Strande, Karen E. Wain, Huntington F. Willard, W. Andrew Faucett, David H. Ledbetter, Adam H. Buchanan, Alastair J. Martin

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    ClinGen Allele Registry links information about genetic variants

    ClinGen Allele Registry links information about genetic variants mā Piotr Pawliczek, Ronak Y. Patel, Lillian Ashmore, Andrew R. Jackson, Chris Bizon, Tristan Nelson, Bradford C. Powell, Robert R. Freimuth, Natasha T. Strande, Neethu Shah, Sameer Paithankar, Matt W. Wright, Selina S. Dwight, Jimmy Zhen, Melissa Landrum, Peter B. McGarvey, Lawrence Babb, Sharon E. Plon, Aleksandar Milosavljevic

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Estimated Prevalence and Clinical Manifestations of <i>UBA1</i> Variants Associated With VEXAS Syndrome in a Clinical Population

    Estimated Prevalence and Clinical Manifestations of <i>UBA1</i> Variants Associated With VEXAS Syndrome in a Clinical Population mā David B. Beck, Dale L. Bodian, Vandan Shah, Uyenlinh L. Mirshahi, Jung Kim, Yi Ding, Samuel J. Magaziner, Natasha T. Strande, Anna Cantor, Jeremy S. Haley, Adam Cook, Wesley Hill, Alan L. Schwartz, Peter C. Grayson, Marcela A. Ferrada, Daniel L. Kastner, David J. Carey, Douglas R. Stewart

    I whakaputaina 2023
    Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

    Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges mā Neeta L. Vora, Bradford C. Powell, Alicia Brandt, Natasha T. Strande, Emily Hardisty, Kelly L. Gilmore, Ann Katherine M. Foreman, Kirk C. Wilhelmsen, Chris Bizon, Jason Reilly, Phil Owen, Cynthia M. Powell, Debra Skinner, Christine Rini, Anne Drapkin Lyerly, Kim Boggess, Karen E. Weck, Jonathan S. Berg, James P. Evans

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening

    An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening mā Laura V. Milko, Julianne O’Daniel, Daniela M. DeCristo, Stephanie B. Crowley, Ann Katherine M. Foreman, Kathleen Wallace, Lonna Mollison, Natasha T. Strande, Zahra S. Girnary, Lacey Boshe, Arthur S. Aylsworth, Müge Güçsavaş‐Çalıkoğlu, Dianne M. Frazier, Neeta L. Vora, Myra I. Roche, Bradford C. Powell, Cynthia M. Powell, Jonathan S. Berg

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

    A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing mā Jonathan S. Berg, Ann Katherine M. Foreman, Julianne O’Daniel, Jessica K. Booker, Lacey Boshe, Timothy S. Carey, Kristy Crooks, Brian C. Jensen, Eric T. Juengst, Kristy Lee, Daniel K. Nelson, Bradford C. Powell, Cynthia M. Powell, Myra I. Roche, Cécile Skrzynia, Natasha T. Strande, Karen E. Weck, Kirk C. Wilhelmsen, James P. Evans

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

    Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders mā Gloria Haskell, Michael C. C. Adams, Zheng Fan, Krunal Amin, Roberto J. Guzman Badillo, Linran Zhou, C. Bizon, Nizar Chahin, Robert Greenwood, Laura V. Milko, Yael Shiloh‐Malawsky, Kristy Crooks, Natasha T. Strande, Michael B. Tennison, Christian R. Tilley, Alicia Brandt, Kirk C. Wilhelmsen, Karen E. Weck, James P. Evans, Jonathan S. Berg

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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