Heidi L. Rehm

机构：Broad Institute, Massachusetts General Hospital, Center for Systems Biology, Massachusetts Institute of Technology · ORCID：0000-0002-6025-0015

发表论文 541 篇 · 总被引 78416 次 · h-index 104

代表论文

• Predicting expression-altering promoter mutations with deep learning (2025 · Science · 被引 62)
• Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria (2025 · Genetics in Medicine · 被引 61)
• Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice (2025 · Nature Genetics · 被引 33)
• Mondo: integrating disease terminology across communities (2025 · Genetics · 被引 27)
• STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci (2025 · Genome Medicine · 被引 21)
• Integrating 730,947 exome sequences with clinical literature improves gene discovery (2026 · medRxiv · 被引 19)