Ohcanbohtosat - Heidi L. Rehm

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

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

    Almmustuhtton 2013
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  2. 2
    Evolving health care through personal genomics

    Evolving health care through personal genomics Dahkki Heidi L. Rehm

    Almmustuhtton 2017
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  3. 3
    Time to make rare disease diagnosis accessible to all

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

    Almmustuhtton 2022
    Viečča ollesdeavstta
    Carta
    Lasit oiddohiidda
    Furkejuvvon:
  4. 4
    Building the foundation for genomics in precision medicine

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

    Almmustuhtton 2015
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  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 Dahkki Latrice Landry, Heidi L. Rehm

    Almmustuhtton 2018
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  6. 6
    Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar

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

    Almmustuhtton 2019
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  7. 7
    Will variants of uncertain significance still exist in 2030?

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

    Almmustuhtton 2023
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  8. 8
    Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines

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

    Almmustuhtton 2019
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  9. 9
    Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

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

    Almmustuhtton 2021
    Viečča ollesdeavstta Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  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 Dahkki Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    Almmustuhtton 2022
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  11. 11
    Inherited Cardiomyopathies

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

    Almmustuhtton 2012
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  12. 12
    Communicating new knowledge on previously reported genetic variants

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

    Almmustuhtton 2012
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  13. 13
    Updated recommendation for the benign stand‐alone ACMG/AMP criterion

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

    Almmustuhtton 2018
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  14. 14
    Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations

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

    Almmustuhtton 2017
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  15. 15
    Management of Secondary Genomic Findings

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

    Almmustuhtton 2020
    Viečča ollesdeavstta
    Revisão
    Lasit oiddohiidda
    Furkejuvvon:
  16. 16
    Tracking genetic variants in the biomedical literature using LitVar 2.0

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

    Almmustuhtton 2023
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  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 Dahkki Daniel S. Herman, G. Kees Hovingh, Oleg Iartchouk, Heidi L. Rehm, Raju Kucherlapati, Jonathan G. Seidman, Christine E. Seidman

    Almmustuhtton 2009
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  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 Dahkki Ingrid A. Holm, Amy L. McGuire, Stacey Pereira, Heidi L. Rehm, Robert C. Green, Alan H. Beggs

    Almmustuhtton 2019
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  19. 19
    Evaluating the impact of in silico predictors on clinical variant classification

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

    Almmustuhtton 2021
    Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:
  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 Dahkki Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A. Kenna, John H. Greinwald, Bruce J. Aronow, Heidi L. Rehm

    Almmustuhtton 2010
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
    Lasit oiddohiidda
    Furkejuvvon:

Ohcanreaiddut: