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← Stacey Gabriel

Papers by Stacey Gabriel

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  1. Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetranceNeurology · 2012
  2. Spectrum of somatic mitochondrial mutations in five cancersProceedings of the National Academy of Sciences · 2012
  3. Sequence analysis of mutations and translocations across breast cancer subtypesNature · 2012
  4. Exome Sequencing Can Improve Diagnosis and Alter Patient ManagementScience Translational Medicine · 2012
  5. Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancerNature Genetics · 2012
  6. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human ExomesScience · 2012
  7. Melanoma genome sequencing reveals frequent PREX2 mutationsNature · 2012
  8. Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in AutismPLoS Genetics · 2012
  9. Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy LocusScience · 2012
  10. Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel DiseasesPLoS ONE · 2012
  11. Pacific biosciences sequencing technology for genotyping and variation discovery in human dataBMC Genomics · 2012
  12. SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic LeukemiaNew England Journal of Medicine · 2011
  13. High-Throughput Detection of Actionable Genomic Alterations in Clinical Tumor Samples by Targeted, Massively Parallel SequencingCancer Discovery · 2011
  14. The functional spectrum of low-frequency coding variationGenome biology · 2011
  15. The Mutational Landscape of Head and Neck Squamous Cell CarcinomaScience · 2011
  16. Demographic history and rare allele sharing among human populationsProceedings of the National Academy of Sciences · 2011
  17. Integrated genomic analyses of ovarian carcinomaNature · 2011
  18. Genome-Wide Association Study of Coronary Heart Disease and Its Risk Factors in 8,090 African Americans: The NHLBI CARe ProjectPLoS Genetics · 2011
  19. Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13Human Molecular Genetics · 2011
  20. Ethical and Practical Guidelines for Reporting Genetic Research Results to Study ParticipantsCirculation Cardiovascular Genetics · 2010
  21. Common genetic variation in multiple metabolic pathways influences susceptibility to low HDL-cholesterol and coronary heart diseaseJournal of Lipid Research · 2010
  22. Targeted Exon Sequencing by In‐Solution Hybrid SelectionCurrent Protocols in Human Genetics · 2010
  23. Candidate Gene Association Resource (CARe)Circulation Cardiovascular Genetics · 2010
  24. Integrative analysis of the melanoma transcriptomeGenome Research · 2010
  25. The landscape of somatic copy-number alteration across human cancersPMC · 2010
  26. Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF12010
  27. Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF1Cancer Cell · 2010
  28. Gene Expression in Fixed Tissues and Outcome in Hepatocellular CarcinomaNew England Journal of Medicine · 2008
  29. Characterizing the cancer genome in lung adenocarcinomaNature · 2007
  30. Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride LevelsScience · 2007
  31. Epidermal Growth Factor Receptor Activation in Glioblastoma through Novel Missense Mutations in the Extracellular DomainPLoS Medicine · 2006
  32. Calibrating a coalescent simulation of human genome sequence variationGenome Research · 2005
  33. Comprehensive Survey of Common Genetic Variation at the Plasminogen Activator Inhibitor-1 Locus and Relations to Circulating Plasminogen Activator Inhibitor-1 LevelsCirculation · 2005
  34. Polymorphisms in signal transducer and activator of transcription 3 and lung function in asthmaRespiratory Research · 2005
  35. Comparison of Fine-Scale Recombination Rates in Humans and ChimpanzeesScience · 2005
  36. Perceptions of School Psychological Services by Education Professionals: Results from a Multi-State Survey Pilot StudySchool Psychology Review · 2004
  37. Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroidsHuman Molecular Genetics · 2004
  38. DNA Sequence Variants in Epithelium-Specific ETS-2 and ETS-3 Are Not Associated with AsthmaAmerican Journal of Respiratory and Critical Care Medicine · 2002
  39. The Structure of Haplotype Blocks in the Human GenomeScience · 2002