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← Stacey Gabriel

Papers by Stacey Gabriel

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  1. Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot MappingCurrent Issues in Molecular Biology · 2026
  2. Population-scale Long-read Sequencing in the All of Us Research Program2025
  3. Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophreniaHuman Genetics and Genomics Advances · 2025
  4. A neoantigen vaccine generates antitumour immunity in renal cell carcinomaNature · 2025
  5. Dysanapsis Genetic Risk Predicts Lung Function Across the LifespanAmerican Journal of Respiratory and Critical Care Medicine · 2024
  6. Genetic sex validation for sample tracking in next-generation sequencing clinical testingBMC Research Notes · 2024
  7. Genomic data in the All of Us Research ProgramNature · 2024
  8. Multiplexed CRISPR-based microfluidic platform for clinical testing of respiratory viruses and identification of SARS-CoV-2 variantsNature Medicine · 2022
  9. Transmission from vaccinated individuals in a large SARS-CoV-2 Delta variant outbreakCell · 2021
  10. Proteogenomic characterization of pancreatic ductal adenocarcinomaCell · 2021
  11. A vast resource of allelic expression data spanning human tissuesGenome biology · 2020
  12. The GTEx Consortium atlas of genetic regulatory effects across human tissuesScience · 2020
  13. Determinants of telomere length across human tissuesScience · 2020
  14. The mutational constraint spectrum quantified from variation in 141,456 humansTyöväentutkimus Vuosikirja · 2020
  15. Gene- and tissue-level interactions in normal gastrointestinal development and Hirschsprung diseaseProceedings of the National Academy of Sciences · 2019
  16. Molecular Genetic Anatomy and Risk Profile of Hirschsprung’s DiseaseNew England Journal of Medicine · 2019
  17. Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutationThe Journal of Experimental Medicine · 2019
  18. Association Between Titin Loss-of-Function Variants and Early-Onset Atrial FibrillationJAMA · 2018
  19. Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from EstoniaGenetics in Medicine · 2018
  20. Characterization and remediation of sample index swaps by non-redundant dual indexing on massively parallel sequencing platformsBMC Genomics · 2018
  21. Genetic Mechanisms of Immune Evasion in Colorectal CancerCancer Discovery · 2018
  22. Scaling accurate genetic variant discovery to tens of thousands of samples2017
  23. Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular DiseaseNew England Journal of Medicine · 2017
  24. Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panelTyöväentutkimus Vuosikirja · 2017
  25. Analysis of protein-coding genetic variation in 60,706 humansTyöväentutkimus Vuosikirja · 2016
  26. Clonal evolution in patients with chronic lymphocytic leukaemia developing resistance to BTK inhibitionSHILAP Revista de lepidopterología · 2016
  27. Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic TargetsCancer Discovery · 2015
  28. Genomic correlates of response to CTLA-4 blockade in metastatic melanomaScience · 2015
  29. Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi AnemiaCell Reports · 2015
  30. Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcomaProceedings of the National Academy of Sciences · 2014
  31. Age-Related Clonal Hematopoiesis Associated with Adverse OutcomesNew England Journal of Medicine · 2014
  32. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyTyöväentutkimus Vuosikirja · 2014
  33. Somatic ERCC2 Mutations Correlate with Cisplatin Sensitivity in Muscle-Invasive Urothelial CarcinomaCancer Discovery · 2014
  34. The Genetic Landscape of Clinical Resistance to RAF Inhibition in Metastatic MelanomaCancer Discovery · 2013
  35. MAP Kinase Pathway Alterations in BRAF -Mutant Melanoma Patients with Acquired Resistance to Combined RAF/MEK InhibitionCancer Discovery · 2013
  36. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices PipelineCurrent Protocols in Bioinformatics · 2013
  37. Pan-cancer patterns of somatic copy number alterationNature Genetics · 2013
  38. A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorderHuman Mutation · 2012
  39. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndromeJournal of Medical Genetics · 2012
  40. Initial genome sequencing and analysis of multiple myelomaNature · 2011
  41. The genomic complexity of primary human prostate cancerNature · 2011
  42. Exome Sequencing,ANGPTL3Mutations, and Familial Combined HypolipidemiaNew England Journal of Medicine · 2010
  43. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataGenome Research · 2010
  44. Integrative Transcriptome Analysis Reveals Common Molecular Subclasses of Human Hepatocellular CarcinomaCancer Research · 2009
  45. EGFR Mutations in Lung Cancer: Correlation with Clinical Response to Gefitinib TherapyScience · 2004