Synapse

← Stacey Gabriel

Papers by Stacey Gabriel

Page 1 · newest first

  1. Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) LevelsJournal of the American College of Cardiology · 2016
  2. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe HypercholesterolemiaJournal of the American College of Cardiology · 2016
  3. ANGPTL3 Deficiency and Protection Against Coronary Artery DiseaseJournal of the American College of Cardiology · 2017
  4. Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemiaEuropean Heart Journal · 2012
  5. Integration of dilated cardiomyopathy genomics with transcriptomics from the human heart implicates regulatory molecular mechanisms2026
  6. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation DatabaseNature Communications · 2025
  7. Omic Risk Scores are Associated with COPD-related Traits Across Three Cohorts2025
  8. Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed2025
  9. Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia2024
  10. Proteome-wide association studies for blood lipids and comparison with transcriptome-wide association studiesHuman Genetics and Genomics Advances · 2024
  11. An Integrated Germline and Somatic Genomic Model Improves Risk Prediction for Coronary Artery Disease2024
  12. Human whole-exome genotype data for Alzheimer’s diseaseNature Communications · 2024
  13. Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical AtherosclerosisCirculation Genomic and Precision Medicine · 2023
  14. Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly2023
  15. The functional impact of rare variation across the regulatory cascadeCell Genomics · 2023
  16. Proteome-Wide Association Studies for Blood Lipids and Comparison with Transcriptome-Wide Association Studies2023
  17. Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects2023
  18. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variantsGenetics · 2023
  19. Gene expression in African Americans, Puerto Ricans and Mexican Americans reveals ancestry-specific patterns of genetic architectureNature Genetics · 2023
  20. Canonical correlation analysis for multi-omics: Application to cross-cohort analysisPLoS Genetics · 2023
  21. Data Supplement from MAP Kinase Pathway Alterations in BRAF-Mutant Melanoma Patients with Acquired Resistance to Combined RAF/MEK Inhibition2023
  22. Supplemental Methods from Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations2023
  23. Supplementary Methods, Figures S1 - S20 from Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets2023
  24. Whole Genome Analysis of Venous Thromboembolism: the Trans-Omics for Precision Medicine ProgramCirculation Genomic and Precision Medicine · 2023
  25. Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease riskNature Genetics · 2023
  26. Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants2023
  27. Mechanisms of response and resistance to combined decitabine and ipilimumab for advanced myeloid diseaseBlood · 2023
  28. Structural variation across 138,134 samples in the TOPMed consortium2023
  29. Evaluation of the Access Bio CareStart rapid SARS-CoV-2 antigen test in asymptomatic individuals tested at a community mass-testing program in Western MassachusettsScientific Reports · 2022
  30. Whole genome sequence analysis of blood lipid levels in >66,000 individualsNature Communications · 2022
  31. Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery DiseaseCirculation Genomic and Precision Medicine · 2022
  32. At-home Testing and Risk Factors for Acquisition of SARS-CoV-2 Infection in a Major US Metropolitan AreaOpen Forum Infectious Diseases · 2022
  33. The functional impact of rare variation across the regulatory cascade2022
  34. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibilityNature Genetics · 2022
  35. Cost-efficient whole genome-sequencing using novel mostly natural sequencing-by-synthesis chemistry and open fluidics platform2022
  36. Multi-ancestry genome-wide association study improves resolution of genes, pathways and pleiotropy for lung function and chronic obstructive pulmonary disease2022
  37. Rare coding variants in ten genes confer substantial risk for schizophreniaTyöväentutkimus Vuosikirja · 2022
  38. Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research ProgramGenome Medicine · 2022
  39. A genome-wide mutational constraint map quantified from variation in 76,156 human genomes2022
  40. Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USACell Reports Medicine · 2022
  41. Combined tumor and immune signals from genomes or transcriptomes predict outcomes of checkpoint inhibition in melanomaCell Reports Medicine · 2022
  42. Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization studyScientific Reports · 2022
  43. Pooling for SARS-CoV2 Surveillance: Validation and Strategy for Implementation in K-12 SchoolsFrontiers in Public Health · 2021
  44. Pangenomics enables genotyping of known structural variants in 5202 diverse genomesScience · 2021
  45. Evidence of transmission from fully vaccinated individuals in a large outbreak of the SARS-CoV-2 Delta variant in Provincetown, Massachusetts2021
  46. Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based mendelian randomization study2021
  47. Whole genome sequence analysis of blood lipid levels in >66,000 individuals2021
  48. Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA2021
  49. High-throughput RNA isoform sequencing using programmable cDNA concatenation2021
  50. Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture2021