Heidi L. Rehm

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Automated reanalysis of genomic data for rare disease diagnostics at scale

  Nature Medicine · 2026-06-24

• When Genomic Reanalysis Leaves the Laboratory — Clinical Genetics in the Age of Consumer AI

  NEJM AI · 2026-06-18

• Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult BiobanksPreprint

  medRxiv · 2026-06-11

• Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

  Genetics in Medicine · 2026-06-01

• Characterizing core outcomes of responsible stewardship for human genomic data in the cloud

  BMC Medical Genomics · 2026-05-06

• Mondo: Integrating Disease Terminology Across Communities

  UNC Libraries · 2026-04-11

• Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource

  UNC Libraries · 2026-01-02

• Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives

  Genetics in Medicine · 2025-12-17

• GREGoR: accelerating genomics for rare diseasesPreprint

  Nature · 2025-11-12 · 14 citations

• The Clinical Genomic Variation LandscapePreprint

  medRxiv · 2025-11-06 · 2 citations

• Toward Same-Day Genome Sequencing in the Critical Care Setting

  New England Journal of Medicine · 2025-10-15 · 10 citations

• Improved allele frequencies in gnomAD through local ancestry inference

  Nature Communications · 2025-10-06 · 9 citations

• Mondo: integrating disease terminology across communities

  Genetics · 2025-10-06 · 14 citations

• ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

  Genetics in Medicine · 2025-09-07 · 1 citations

• ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International PlatformPreprint

  Genetics in Medicine · 2025-08-28

• Improving the FAIRness and Sustainability of the NHGRI Resources Ecosystem.Preprint

  PubMed · 2025-08-19

• AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals

  ACM Transactions on Interactive Intelligent Systems · 2025-08-06 · 3 citations

• Advancing the science of genomic learning healthcare systems

  Learning Health Systems · 2025-07-23 · 1 citations

• Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

  UNC Libraries · 2025-07-17

• Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

  UNC Libraries · 2025-07-17