Search Results - 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 by Heidi L. Rehm

    Published 2013
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  2. 2
    Evolving health care through personal genomics

    Evolving health care through personal genomics by Heidi L. Rehm

    Published 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 by Heidi L. Rehm

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

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

    Published 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 by Latrice Landry, Heidi L. Rehm

    Published 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 by Steven M. Harrison, Heidi L. Rehm

    Published 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? by Douglas M. Fowler, Heidi L. Rehm

    Published 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 by Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm

    Published 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 by Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria

    Published 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 by Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    Published 2022
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  11. 11
    Inherited Cardiomyopathies

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

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

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

    Published 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 by Rajarshi Ghosh, Steven M. Harrison, Heidi L. Rehm, Sharon E. Plon, Leslie G. Biesecker

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

    Published 2017
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  15. 15
    Management of Secondary Genomic Findings

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

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

    Published 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 by Daniel S. Herman, G. Kees Hovingh, Oleg Iartchouk, Heidi L. Rehm, Raju Kucherlapati, Jonathan G. Seidman, Christine E. Seidman

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

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

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

    Published 2010
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