Heidi L. Rehm

Biochemistry, Genetics and Molecular Biology · Life Sciences

98h-index70.8kcitations512works21.02yr avg
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Research Topics

Genomics and Rare Diseases(311), Cancer Genomics and Diagnostics(113), Genomic variations and chromosomal abnormalities(100), BRCA gene mutations in cancer(57), Genetic Associations and Epidemiology(55)

Publications496 total

Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
UNC Libraries·2026Open Access
Equity-focused implementation to enhance access to rare disease genomic research and understand diverse perspectives
Genetics in Medicine·2025
GREGoR: accelerating genomics for rare diseases
Nature·2025· 6 citedOpen Access
The Clinical Genomic Variation Landscape
2025· 2 citedOpen Access
Toward Same-Day Genome Sequencing in the Critical Care Setting
New England Journal of Medicine·2025· 3 citedOpen Access
Improved allele frequencies in gnomAD through local ancestry inference
Nature Communications·2025· 5 citedOpen Access
Mondo: integrating disease terminology across communities
Genetics·2025· 5 citedOpen Access
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
Genetics in Medicine·2025Open Access
ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform
2025Open Access
Improving the FAIRness and Sustainability of the NHGRI Resources Ecosystem.
PubMed·2025
AI-Enhanced Sensemaking: Exploring the Design of a Generative AI-Based Assistant to Support Genetic Professionals
ACM Transactions on Interactive Intelligent Systems·2025· 1 cited
Advancing the science of genomic learning healthcare systems
Learning Health Systems·2025Open Access
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
UNC Libraries·2025Open Access
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
UNC Libraries·2025Open Access
Predicting expression-altering promoter mutations with deep learning
Science·2025· 20 cited
Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice
Nature Genetics·2025· 17 citedOpen Access
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts
2025· 1 citedOpen Access
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases
Human Genetics and Genomics Advances·2025· 1 citedOpen Access
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Genome Medicine·2025· 8 citedOpen Access
Building Biobanks to Drive Biomedical Research and Genomically Informed Care
JAMA Network Open·2025Open Access
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Frequent Co-authors

Jonathan S. Berg(11), Steven M. Harrison(11), Leslie G. Biesecker(9), Robert C. Green(8), Sharon E. Plon(8), Matthew S. Lebo(8), Daniel G. MacArthur(7), Ingrid A. Holm(7), Amy L. McGuire(6), Birgit Funke(6), Anne O’Donnell‐Luria(6), Marc S. Williams(5), Tina Pesaran(5), Anthony Philippakis(5), Ada Hamosh(5), Ozge Ceyhan‐Birsoy(5), Alan H. Beggs(5), Timothy W. Yu(5), Madhuri Hegde(4), Elaine Lyon(4)