Sökresultat - 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 av Heidi L. Rehm

    Publicerad 2013
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  2. 2
    Evolving health care through personal genomics

    Evolving health care through personal genomics av Heidi L. Rehm

    Publicerad 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 av Heidi L. Rehm

    Publicerad 2022
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  4. 4
    Building the foundation for genomics in precision medicine

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

    Publicerad 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 av Latrice Landry, Heidi L. Rehm

    Publicerad 2018
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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 av Steven M. Harrison, Heidi L. Rehm

    Publicerad 2019
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  7. 7
    Will variants of uncertain significance still exist in 2030?

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

    Publicerad 2023
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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 av Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm

    Publicerad 2019
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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 av Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria

    Publicerad 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 av Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    Publicerad 2022
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  11. 11
    Inherited Cardiomyopathies

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

    Publicerad 2012
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  12. 12
    Communicating new knowledge on previously reported genetic variants

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

    Publicerad 2012
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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 av Rajarshi Ghosh, Steven M. Harrison, Heidi L. Rehm, Sharon E. Plon, Leslie G. Biesecker

    Publicerad 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 av Ahmad Abou Tayoun, Nancy B. Spinner, Heidi L. Rehm, Robert C. Green, Diana W. Bianchi

    Publicerad 2017
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  15. 15
    Management of Secondary Genomic Findings

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

    Publicerad 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 av Alexis Allot, Chih-Hsuan Wei, Lon Phan, Timothy Hefferon, Melissa Landrum, Heidi L. Rehm, Zhiyong Lu

    Publicerad 2023
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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 av Daniel S. Herman, G. Kees Hovingh, Oleg Iartchouk, Heidi L. Rehm, Raju Kucherlapati, Jonathan G. Seidman, Christine E. Seidman

    Publicerad 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 av Ingrid A. Holm, Amy L. McGuire, Stacey Pereira, Heidi L. Rehm, Robert C. Green, Alan H. Beggs

    Publicerad 2019
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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 av Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf, Matt W. Wright, Heidi L. Rehm, Leslie G. Biesecker, Ahmad Abou Tayoun

    Publicerad 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 av Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A. Kenna, John H. Greinwald, Bruce J. Aronow, Heidi L. Rehm

    Publicerad 2010
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