Search Results - Rehm, Heidi

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  1. 1
    Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing

    Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing by Rehm, Heidi

    Published 2018
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  2. 2
    Disease-targeted sequencing: a cornerstone in the clinic

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

    Published 2013
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  3. 3
    Rapid access to genetic discoveries underlying human disease

    Rapid access to genetic discoveries underlying human disease by Rehm, Heidi L.

    Published 2016
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  4. 4
    Evolving health care through personal genomics

    Evolving health care through personal genomics by Rehm, Heidi L.

    Published 2017
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  5. 5
    A new era in the interpretation of human genomic variation

    A new era in the interpretation of human genomic variation by Rehm, Heidi L.

    Published 2017
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  6. 6
    Time to make rare disease diagnosis accessible to all

    Time to make rare disease diagnosis accessible to all by Rehm, Heidi L.

    Published 2022
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  7. 7
    Building the foundation for genomics in precision medicine

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

    Published 2015
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  8. 8
    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 Landry, Latrice G., Rehm, Heidi L.

    Published 2018
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  9. 9
    The Ancestral Pace of Variant Reclassification

    The Ancestral Pace of Variant Reclassification by Plon, Sharon E, Rehm, Heidi L

    Published 2018
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  10. 10
    Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

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

    Published 2019
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  11. 11
    Keeping up with the genomes: scaling genomic variant interpretation

    Keeping up with the genomes: scaling genomic variant interpretation by Rehm, Heidi L., Fowler, Douglas M.

    Published 2019
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  12. 12
    Genetic variation in the Middle East—an opportunity to advance the human genetics field

    Genetic variation in the Middle East—an opportunity to advance the human genetics field by Abou Tayoun, Ahmad N., Rehm, Heidi L.

    Published 2020
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  13. 13
    The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers

    The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers by Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.

    Published 2016
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  14. 14
    Targeted Sequencing Using Affymetrix CustomSeq Arrays

    Targeted Sequencing Using Affymetrix CustomSeq Arrays by Teekakirikul, Polakit, Cox, Stephanie, Funke, Birgit, Rehm, Heidi L.

    Published 2011
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  15. 15
    ClinVar Is a Critical Resource to Advance Variant Interpretation

    ClinVar Is a Critical Resource to Advance Variant Interpretation by Rehm, Heidi L., Harrison, Steven M., Martin, Christa L.

    Published 2017
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  16. 16
    Overview of specifications to the ACMG/AMP variant interpretation guidelines

    Overview of specifications to the ACMG/AMP variant interpretation guidelines by Harrison, Steven M., Biesecker, Leslie G., Rehm, Heidi L.

    Published 2019
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  17. 17
    Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

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

    Published 2021
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  18. 18
    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 Boycott, Kym M., Azzariti, Danielle R., Hamosh, Ada, Rehm, Heidi L.

    Published 2022
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  19. 19
    Reclassification of the BRAF p.Ile208Val variant by case-level data sharing

    Reclassification of the BRAF p.Ile208Val variant by case-level data sharing by Grant, Andrew R., Hemphill, Sarah E., Vincent, Lisa M., Rehm, Heidi L.

    Published 2018
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  20. 20
    TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling

    TMPRSS3 Gene Variants With Implications for Auditory Treatment and Counseling by Moon, In Seok, Grant, Andrew R., Sagi, Varun, Rehm, Heidi L., Stankovic, Konstantina M.

    Published 2021
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