検索結果 - Heidi L. Rehm

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  1. 1
    Disease-targeted sequencing: a cornerstone in the clinic

    Disease-targeted sequencing: a cornerstone in the clinic 著者: Heidi L. Rehm

    出版事項 2013
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  2. 2
    Evolving health care through personal genomics

    Evolving health care through personal genomics 著者: Heidi L. Rehm

    出版事項 2017
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  3. 3
    Time to make rare disease diagnosis accessible to all

    Time to make rare disease diagnosis accessible to all 著者: Heidi L. Rehm

    出版事項 2022
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    Carta
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  4. 4
    Building the foundation for genomics in precision medicine

    Building the foundation for genomics in precision medicine 著者: Samuel Aronson, Heidi L. Rehm

    出版事項 2015
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  5. 5
    Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

    Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy 著者: Latrice Landry, Heidi L. Rehm

    出版事項 2018
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    Artigo
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  6. 6
    Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

    Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar 著者: Steven M. Harrison, Heidi L. Rehm

    出版事項 2019
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    Artigo
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  7. 7
    Will variants of uncertain significance still exist in 2030?

    Will variants of uncertain significance still exist in 2030? 著者: Douglas M. Fowler, Heidi L. Rehm

    出版事項 2023
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    Artigo
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  8. 8
    Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

    Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines 著者: Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm

    出版事項 2019
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    Artigo
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  9. 9
    Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

    Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes 著者: Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria

    出版事項 2021
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  10. 10
    Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking

    Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking 著者: Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    出版事項 2022
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  11. 11
    Inherited Cardiomyopathies

    Inherited Cardiomyopathies 著者: Polakit Teekakirikul, Melissa Kelly, Heidi L. Rehm, Neal K. Lakdawala, Birgit H. Funke

    出版事項 2012
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  12. 12
    Communicating new knowledge on previously reported genetic variants

    Communicating new knowledge on previously reported genetic variants 著者: Samuel Aronson, Eugene Clark, Matthew Varugheese, Samantha Baxter, Lawrence Babb, Heidi L. Rehm

    出版事項 2012
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    Artigo
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  13. 13
    Updated recommendation for the benign stand‐alone ACMG/AMP criterion

    Updated recommendation for the benign stand‐alone ACMG/AMP criterion 著者: Rajarshi Ghosh, Steven M. Harrison, Heidi L. Rehm, Sharon E. Plon, Leslie G. Biesecker

    出版事項 2018
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  14. 14
    Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

    Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations 著者: Ahmad Abou Tayoun, Nancy B. Spinner, Heidi L. Rehm, Robert C. Green, Diana W. Bianchi

    出版事項 2017
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  15. 15
    Management of Secondary Genomic Findings

    Management of Secondary Genomic Findings 著者: Alexander Katz, Robert L. Nussbaum, Benjamin D. Solomon, Heidi L. Rehm, Marc S. Williams, Leslie G. Biesecker

    出版事項 2020
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  16. 16
    Tracking genetic variants in the biomedical literature using LitVar 2.0

    Tracking genetic variants in the biomedical literature using LitVar 2.0 著者: Alexis Allot, Chih-Hsuan Wei, Lon Phan, Timothy Hefferon, Melissa Landrum, Heidi L. Rehm, Zhiyong Lu

    出版事項 2023
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    Artigo
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  17. 17
    Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

    Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection 著者: Daniel S. Herman, G. Kees Hovingh, Oleg Iartchouk, Heidi L. Rehm, Raju Kucherlapati, Jonathan G. Seidman, Christine E. Seidman

    出版事項 2009
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  18. 18
    Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project

    Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project 著者: Ingrid A. Holm, Amy L. McGuire, Stacey Pereira, Heidi L. Rehm, Robert C. Green, Alan H. Beggs

    出版事項 2019
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    Artigo
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  19. 19
    Evaluating the impact of in silico predictors on clinical variant classification

    Evaluating the impact of in silico predictors on clinical variant classification 著者: Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf, Matt W. Wright, Heidi L. Rehm, Leslie G. Biesecker, Ahmad Abou Tayoun

    出版事項 2021
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  20. 20
    High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays

    High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays 著者: Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A. Kenna, John H. Greinwald, Bruce J. Aronow, Heidi L. Rehm

    出版事項 2010
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    Artigo
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