Stephen B. Montgomery

Mayo Clinic — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

93h-index89.3kcitations418works15.82yr avg
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Research Topics

Genetic Associations and Epidemiology(94), Genomics and Rare Diseases(56), RNA modifications and cancer(52), RNA Research and Splicing(49), Bioinformatics and Genomic Networks(32)

Publications399 total

Long-read genome sequencing and multi-omics in aging and neurodegeneration
2025· 1 citedOpen Access
The Long Non-coding RNA Landscape of Endurance Exercise Training
2025Open Access
Mapping causal non-coding variants in coronary artery disease
Nature Cardiovascular Research·2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathies
The American Journal of Human Genetics·2025· 7 citedOpen Access
Regulatory genomics at biobank scales
Nature Reviews Genetics·2025· 1 citedOpen Access
Interactions Between Dietary Metabolites and Regulatory Risk Variants for Human Colon Cancer
2025Open Access
Disruption of the cerebrospinal fluid–plasma protein balance in cognitive impairment and aging
Nature Medicine·2025· 12 citedOpen Access
The Somatic Mosaicism across Human Tissues Network
Nature·2025· 28 citedOpen Access
Toward optimizing diversifying base editors for high-throughput mutational scanning studies
Nucleic Acids Research·2025Open Access
The evolutionarily conserved PRP4K-CHMP4B/vps32 splicing circuit regulates autophagy
Cell Reports·2025Open Access
Focus on single gene effects limits discovery and interpretation of complex trait-associated variants
2025· 1 citedOpen Access
Transcriptomic signatures of rare variant impacts across sex and the X chromosome
Human Genetics and Genomics Advances·2025· 1 citedOpen Access
Predicting expression-altering promoter mutations with deep learning
Science·2025· 20 cited
Integrated single-cell multiome analysis reveals muscle fiber-type gene regulatory circuitry modulated by endurance exercise
Genome Research·2025· 4 citedOpen Access
DragonRNA: Generality of DNA-primed RNA-extension activities by DNA-directed RNA polymerases
Nucleic Acids Research·2025Open Access
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
Genome Research·2025· 7 citedOpen Access
Mapping the regulatory effects of common and rare non-coding variants across cellular and developmental contexts in the brain and heart
2025· 5 citedOpen Access
Functional analysis of cancer-associated germline risk variants
Nature Genetics·2025· 9 cited
Functional impact of rare variants and sex across the X-chromosome and autosomes
2025Open Access
The human and non-human primate developmental GTEx projects
Nature·2025· 41 citedOpen Access
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Frequent Co-authors

Emmanouil T. Dermitzakis(30), Tuuli Lappalainen(16), Alexis Battle(15), Barbara E. Stranger(14), Kristin Ardlie(13), Daniel G. MacArthur(13), Roderic Guigó(13), François Aguet(12), Laure Frésard(12), Sarah Kim-Hellmuth(12), Ayellet V. Segrè(11), Alvaro Barbeira(11), Rodrigo Bonazzola(11), Hae Kyung Im(11), Gad Getz(10), Brunilda Balliu(10), Andrew Brown(10), Stephane E. Castel(10), Barbara E. Engelhardt(10), Eric R. Gamazon(10)