Lori L. Bonnycastle

National Institutes of Health — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

83h-index71.0kcitations222works11.02yr avg
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Research Topics

Genetic Associations and Epidemiology(103), Pancreatic function and diabetes(36), Nutrition, Genetics, and Disease(21), Epigenetics and DNA Methylation(20), Genetic Mapping and Diversity in Plants and Animals(20)

Publications189 total

Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci
UNC Libraries·2025Open Access
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk
UNC Libraries·2025Open Access
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits
UNC Libraries·2025Open Access
Extensive differential gene expression and regulation by sex in human skeletal muscle
UNC Libraries·2025Open Access
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Nature Communications·2025· 3 citedOpen Access
Inverse directions of association of higher physical activity and higher insulin resistance with human skeletal muscle cell typae abundance and fiber-type-level gene expression
2025Open Access
A spatial transcriptomics dataset of pancreas sections in normal glucose tolerance and type 2 diabetic donors
Scientific Data·2025Open Access
Genetics of growth rate in induced pluripotent stem cells
2025Open Access
Direct RNA nanopore sequencing reveals rapid RNA modification changes following glucose stimulation of human pancreatic beta-cell lines
2025Open Access
Extensive differential gene expression and regulation by sex in human skeletal muscle
Cell Genomics·2025· 11 citedOpen Access
ACE2 expression in adipose tissue is associated with cardio-metabolic risk factors and cell type composition—implications for COVID-19
UNC Libraries·2025Open Access
Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits
Nature Genetics·2025· 16 citedOpen Access
Systematic phenotype and genotype characterization of Moebius syndrome
Genetics in Medicine Open·2025Open Access
Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 h
Diabetologia·2024· 3 citedOpen Access
Scalable Hypothalamic Arcuate Neuron Differentiation from Human Pluripotent Stem Cells Suitable for Modeling Metabolic and Reproductive Disorders
2024· 2 citedOpen Access
212-OR: Differential Cell-Type<b>-</b>Specific Gene Expression and Chromatin Accessibility by Type 2 Diabetes Status and Physical Activity Levels in Human Skeletal Muscle
Diabetes·2024
Generation of Human Isogenic Induced Pluripotent Stem Cell Lines with CRISPR Prime Editing
The CRISPR Journal·2024· 12 citedOpen Access
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2024· 157 citedOpen Access
A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2023· 1.1k citedOpen Access
Inferring compound heterozygosity from large-scale exome sequencing data
Nature Genetics·2023· 30 citedOpen Access
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Frequent Co-authors

Anne Jackson(32), Michael Boehnke(25), Francis S. Collins(25), Heather M. Stringham(24), Laura J. Scott(22), Richard N. Bergman(22), Peter S. Chines(19), Tōnu Esko(17), Inga Prokopenko(16), Guðmar Þorleifsson(16), Karen L. Mohlke(16), Teresa Ferreira(15), Cristen J. Willer(15), Michael R. Erdos(15), Jian’an Luan(14), Narisu Narisu(14), Jaakko Tuomilehto(14), Leif Groop(13), Benjamin F. Voight(13), Josée Dupuis(12)