Stephen B. Montgomery

Career Trajectory

Research Cluster Map

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

• Decoding common and rare noncoding variant effects across cellular and developmental contexts

  Nature Genetics · 2026-06-15

• Long-read genome sequencing and multi-omics in aging and neurodegenerationPreprint

  medRxiv · 2025-10-13 · 2 citations

• The Long Non-coding RNA Landscape of Endurance Exercise TrainingPreprint

  Molecular Metabolism · 2025-10-10

• Mapping causal non-coding variants in coronary artery disease

  Nature Cardiovascular Research · 2025-10-07

• Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

  The American Journal of Human Genetics · 2025-09-19 · 16 citations

• Regulatory genomics at biobank scales

  Nature Reviews Genetics · 2025-09-16 · 1 citations

• Interactions Between Dietary Metabolites and Regulatory Risk Variants for Human Colon CancerPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-09-08

• Disruption of the cerebrospinal fluid–plasma protein balance in cognitive impairment and aging

  Nature Medicine · 2025-07-15 · 23 citations

• The Somatic Mosaicism across Human Tissues Network

  Nature · 2025-07-02 · 42 citations

• Toward optimizing diversifying base editors for high-throughput mutational scanning studies

  Nucleic Acids Research · 2025-06-20 · 1 citations

• The evolutionarily conserved PRP4K-CHMP4B/vps32 splicing circuit regulates autophagy

  Cell Reports · 2025-06-16

• Focus on single gene effects limits discovery and interpretation of complex trait-associated variantsPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-06-06 · 1 citations

• Transcriptomic signatures of rare variant impacts across sex and the X chromosome

  Human Genetics and Genomics Advances · 2025-05-31 · 2 citations

• Predicting expression-altering promoter mutations with deep learning

  Science · 2025-05-29 · 44 citations

• Integrated single-cell multiome analysis reveals muscle fiber-type gene regulatory circuitry modulated by endurance exercise

  Genome Research · 2025-05-20 · 7 citations

• Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

  Genome Research · 2025-03-20 · 11 citations

• DragonRNA: Generality of DNA-primed RNA-extension activities by DNA-directed RNA polymerases

  Nucleic Acids Research · 2025-03-20

• Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heartPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-02-19 · 6 citations

• Functional analysis of cancer-associated germline risk variants

  Nature Genetics · 2025-02-17 · 10 citations

• Functional impact of rare variants and sex across the X-chromosome and autosomesPreprint

  bioRxiv (Cold Spring Harbor Laboratory) · 2025-01-23