Stacey Gabriel

OpenAlex profile · ORCID

Selected research works

Up to 100 selected research works. Source updated 2026-10-28T19:34:42+00:00.

1. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data · 2010 · 27,868 citations
2. A global reference for human genetic variation · 2015 · 18,231 citations
3. A framework for variation discovery and genotyping using next-generation DNA sequencing data · 2011 · 11,479 citations
4. Analysis of protein-coding genetic variation in 60,706 humans · 2016 · 9,587 citations
5. The mutational constraint spectrum quantified from variation in 141,456 humans · 2020 · 9,417 citations
6. EGFR Mutations in Lung Cancer: Correlation with Clinical Response to Gefitinib Therapy · 2004 · 9,371 citations
7. The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity · 2012 · 7,947 citations
8. A map of human genome variation from population-scale sequencing · 2010 · 7,879 citations
9. Comprehensive genomic characterization defines human glioblastoma genes and core pathways · 2008 · 7,729 citations
10. An integrated map of genetic variation from 1,092 human genomes · 2012 · 7,710 citations
11. Integrated Genomic Analysis Identifies Clinically Relevant Subtypes of Glioblastoma Characterized by Abnormalities in PDGFRA, IDH1, EGFR, and NF1 · 2010 · 7,571 citations
12. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline · 2013 · 6,685 citations
13. Comprehensive molecular characterization of gastric adenocarcinoma · 2014 · 6,493 citations
14. The International HapMap Project · 2003 · 6,058 citations
15. The Immune Landscape of Cancer · 2018 · 5,864 citations
16. The Structure of Haplotype Blocks in the Human Genome · 2002 · 5,864 citations
17. Comprehensive molecular profiling of lung adenocarcinoma · 2014 · 5,725 citations
18. The GTEx Consortium atlas of genetic regulatory effects across human tissues · 2020 · 5,531 citations
19. Mutational heterogeneity in cancer and the search for new cancer-associated genes · 2013 · 5,460 citations
20. The Somatic Genomic Landscape of Glioblastoma · 2013 · 5,011 citations
21. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples · 2013 · 4,994 citations
22. Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes · 2014 · 4,837 citations
23. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder · 2009 · 4,811 citations
24. The landscape of somatic copy-number alteration across human cancers · 2010 · 4,017 citations
25. Comprehensive genomic characterization of squamous cell lung cancers · 2012 · 3,983 citations
26. An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics · 2018 · 3,713 citations
27. Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence · 2014 · 3,528 citations
28. Biological, clinical and population relevance of 95 loci for blood lipids · 2010 · 3,522 citations
29. The repertoire of mutational signatures in human cancer · 2020 · 3,493 citations
30. Comprehensive molecular characterization of clear cell renal cell carcinoma · 2013 · 3,478 citations
31. Oncogenic Signaling Pathways in The Cancer Genome Atlas · 2018 · 3,197 citations
32. Genomic Classification of Cutaneous Melanoma · 2015 · 3,148 citations
33. The Molecular Taxonomy of Primary Prostate Cancer · 2015 · 3,119 citations
34. Discovery and saturation analysis of cancer genes across 21 tumour types · 2014 · 3,097 citations
35. Integrated Genomic Characterization of Papillary Thyroid Carcinoma · 2014 · 3,076 citations
36. Pan-cancer analysis of whole genomes · 2020 · 3,064 citations
37. Integrating common and rare genetic variation in diverse human populations · 2010 · 3,017 citations
38. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis · 2005 · 2,993 citations
39. An immunogenic personal neoantigen vaccine for patients with melanoma · 2017 · 2,931 citations
40. Genome-Wide Association Analysis Identifies Loci for Type 2 Diabetes and Triglyceride Levels · 2007 · 2,843 citations
41. Genomic correlates of response to CTLA-4 blockade in metastatic melanoma · 2015 · 2,839 citations
42. A reference panel of 64,976 haplotypes for genotype imputation · 2016 · 2,836 citations
43. Somatic mutations affect key pathways in lung adenocarcinoma · 2008 · 2,680 citations
44. Clonal Hematopoiesis and Risk of Atherosclerotic Cardiovascular Disease · 2017 · 2,675 citations
45. A Landscape of Driver Mutations in Melanoma · 2012 · 2,610 citations
46. Cell-of-Origin Patterns Dominate the Molecular Classification of 10,000 Tumors from 33 Types of Cancer · 2018 · 2,539 citations
47. The Mutational Landscape of Head and Neck Squamous Cell Carcinoma · 2011 · 2,509 citations
48. Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma · 2017 · 2,489 citations
49. Comprehensive Characterization of Cancer Driver Genes and Mutations · 2018 · 2,307 citations
50. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program · 2021 · 2,211 citations
51. Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma · 2016 · 2,196 citations
52. Machine Learning Identifies Stemness Features Associated with Oncogenic Dedifferentiation · 2018 · 2,178 citations
53. Detecting recent positive selection in the human genome from haplotype structure · 2002 · 2,105 citations
54. Integrated Genomic Characterization of Pancreatic Ductal Adenocarcinoma · 2017 · 2,018 citations
55. Scaling accurate genetic variant discovery to tens of thousands of samples · 2017 · 1,938 citations
56. Pan-cancer patterns of somatic copy number alteration · 2013 · 1,873 citations
57. Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer · 2015 · 1,862 citations
58. Mapping the Hallmarks of Lung Adenocarcinoma with Massively Parallel Sequencing · 2012 · 1,789 citations
59. Linkage disequilibrium in the human genome · 2001 · 1,775 citations
60. The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes · 2000 · 1,767 citations
61. Patterns and rates of exonic de novo mutations in autism spectrum disorders · 2012 · 1,735 citations
62. A genomic mutational constraint map using variation in 76,156 human genomes · 2023 · 1,723 citations
63. Efficiency and power in genetic association studies · 2005 · 1,688 citations
64. Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes · 2012 · 1,610 citations
65. The mutational constraint spectrum quantified from variation in 141,456 humans · 2019 · 1,604 citations
66. Integrated genomic and molecular characterization of cervical cancer · 2017 · 1,572 citations
67. Rare chromosomal deletions and duplications increase risk of schizophrenia · 2008 · 1,474 citations
68. Initial genome sequencing and analysis of multiple myeloma · 2011 · 1,436 citations
69. Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing · 2009 · 1,434 citations
70. Neoantigen vaccine generates intratumoral T cell responses in phase Ib glioblastoma trial · 2018 · 1,430 citations
71. A polygenic burden of rare disruptive mutations in schizophrenia · 2014 · 1,385 citations
72. Evolution and Impact of Subclonal Mutations in Chronic Lymphocytic Leukemia · 2013 · 1,380 citations
73. Punctuated Evolution of Prostate Cancer Genomes · 2013 · 1,324 citations
74. Gene Expression in Fixed Tissues and Outcome in Hepatocellular Carcinoma · 2008 · 1,288 citations
75. Integrative Transcriptome Analysis Reveals Common Molecular Subclasses of Human Hepatocellular Carcinoma · 2009 · 1,240 citations
76. The genomic complexity of primary human prostate cancer · 2011 · 1,236 citations
77. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder · 2008 · 1,234 citations
78. The genetic landscape of high-risk neuroblastoma · 2013 · 1,196 citations
79. Sequence analysis of mutations and translocations across breast cancer subtypes · 2012 · 1,180 citations
80. Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas · 2018 · 1,143 citations
81. Advances in understanding cancer genomes through second-generation sequencing · 2010 · 1,115 citations
82. Characterizing the cancer genome in lung adenocarcinoma · 2007 · 1,104 citations
83. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants · 2009 · 1,088 citations
84. Genomic Characterization of Brain Metastases Reveals Branched Evolution and Potential Therapeutic Targets · 2015 · 1,084 citations
85. SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia · 2011 · 1,082 citations
86. Genomic and Functional Approaches to Understanding Cancer Aneuploidy · 2018 · 1,068 citations
87. Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas · 2017 · 1,067 citations
88. Mutations driving CLL and their evolution in progression and relapse · 2015 · 1,065 citations
89. The evolutionary history of 2,658 cancers · 2020 · 1,055 citations
90. The genetic architecture of type 2 diabetes · 2016 · 1,051 citations
91. A structural variation reference for medical and population genetics · 2020 · 1,036 citations
92. Spatial Organization and Molecular Correlation of Tumor-Infiltrating Lymphocytes Using Deep Learning on Pathology Images · 2018 · 1,023 citations
93. High-throughput oncogene mutation profiling in human cancer · 2007 · 988 citations
94. Rare coding variants in ten genes confer substantial risk for schizophrenia · 2022 · 979 citations
95. A framework for the interpretation of de novo mutation in human disease · 2014 · 979 citations
96. SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform · 2009 · 971 citations
97. Alzheimer's disease: early alterations in brain DNA methylation at ANK1, BIN1, RHBDF2 and other loci · 2014 · 956 citations
98. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants · 2012 · 951 citations
99. Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia · 2016 · 943 citations
100. Integrated detection and population-genetic analysis of SNPs and copy number variation · 2008 · 935 citations