Gabriel, Stacey

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., Kiezun, A., Farrall, M., Goel, A., Zuk, O., et al. (2015) · Nature

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 650

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 640

Integrative Molecular Characterization of Malignant Pleural Mesothelioma

Hmeljak, J., Sanchez-Vega, F., Hoadley, K. A., Shih, J., Stewart, C., Heiman, D., Tarpey, P., Danilova, L., Drill, E., Gibb, E. A., et al. (2018) · Cancer Discovery

Occupational and environmental lung diseasesIntraperitoneal and Appendiceal Malignancies

Cited by 618

Calibrating a coalescent simulation of human genome sequence variation

Schaffner, S. F., Foo, C., Gabriel, S., Reich, D., Daly, M. J., & Altshuler, D. (2005) · Genome Research

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 616

Proteogenomic characterization of pancreatic ductal adenocarcinoma

Cao, L., Huang, C., Cui Zhou, D., Hu, Y., Lih, T. M., Savage, S. R., Krug, K., Clark, D. J., Schnaubelt, M., Chen, L., et al. (2021) · Cell

Pancreatic and Hepatic Oncology ResearchCancer Genomics and Diagnostics

Cited by 578

Comprehensive Characterization of Cancer Driver Genes and Mutations

Bailey, M. H., Tokheim, C., Porta-Pardo, E., Sengupta, S., Bertrand, D., Weerasinghe, A., Colaprico, A., Wendl, M. C., Kim, J., Reardon, B., et al. (2018) · Cell

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 552

Genetic Mechanisms of Immune Evasion in Colorectal Cancer

Grasso, C. S., Giannakis, M., Wells, D. K., Hamada, T., Mu, X. J., Quist, M., Nowak, J. A., Nishihara, R., Qian, Z. R., Inamura, K., et al. (2018) · Cancer Discovery

Genetic factors in colorectal cancerCancer Immunotherapy and Biomarkers

Cited by 535

Determinants of telomere length across human tissues

Demanelis, K., Jasmine, F., Chen, L. S., Chernoff, M., Tong, L., Delgado, D., Zhang, C., Shinkle, J., Sabarinathan, M., Lin, H., et al. (2020) · Science

Telomeres, Telomerase, and SenescenceGenetics, Aging, and Longevity in Model Organisms

Cited by 515

Comprehensive Molecular Characterization of the Hippo Signaling Pathway in Cancer

Wang, Y., Xu, X., Maglic, D., Dill, M. T., Mojumdar, K., Ng, P. K.-S., Jeong, K. J., Tsang, Y. H., Moreno, D., Bhavana, V. H., et al. (2018) · Cell Reports

Hippo pathway signaling and YAP/TAZCancer-related molecular mechanisms research

Cited by 500

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Go-T2D Consortium, Flannick, J., T2D-GENES Consortium, Thorleifsson, G., Beer, N. L., Jacobs, S. B. R., Grarup, N., Burtt, N. P., Mahajan, A., Fuchsberger, C., et al. (2014) · Nature Genetics

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 492

Proteogenomic Characterization of Endometrial Carcinoma

Dou, Y., Kawaler, E. A., Cui Zhou, D., Gritsenko, M. A., Huang, C., Blumenberg, L., Karpova, A., Petyuk, V. A., Savage, S. R., Satpathy, S., et al. (2020) · Cell

Endometrial and Cervical Cancer TreatmentsAdvanced Proteomics Techniques and Applications

Cited by 485

Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma

Perry, J. A., Kiezun, A., Tonzi, P., Van Allen, E. M., Carter, S. L., Baca, S. C., Cowley, G. S., Bhatt, A. S., Rheinbay, E., Pedamallu, C. S., et al. (2014) · Proceedings of the National Academy of Sciences

Sarcoma Diagnosis and TreatmentPI3K/AKT/mTOR signaling in cancer

Cited by 481

MAP Kinase Pathway Alterations in BRAF -Mutant Melanoma Patients with Acquired Resistance to Combined RAF/MEK Inhibition

Wagle, N., Van Allen, E. M., Treacy, D. J., Frederick, D. T., Cooper, Z. A., Taylor-Weiner, A., Rosenberg, M., Goetz, E. M., Sullivan, R. J., Farlow, D. N., et al. (2014) · Cancer Discovery

Melanoma and MAPK PathwaysLung Cancer Treatments and Mutations

Cited by 478

ANGPTL3 deficiency and protection against coronary artery disease

Stitziel, N. O., Khera, A. V., Wang, X., Bierhals, A. J., Vourakis, A. C., Sperry, A. E., Natarajan, P., Klarin, D., Emdin, C. A., Zekavat, S. M., et al. (2017) · Journal of the American College of Cardiology

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 467

A Quantitative Proteome Map of the Human Body

Jiang, L., Wang, M., Lin, S., Jian, R., Li, X., Chan, J., Dong, G., Fang, H., Robinson, A. E., Aguet, F., et al. (2020) · Cell

Advanced Proteomics Techniques and ApplicationsBioinformatics and Genomic Networks

Cited by 458

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 451

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 442

Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas

Schaub, F. X., Dhankani, V., Berger, A. C., Trivedi, M., Richardson, A. B., Shaw, R., Zhao, W., Zhang, X., Ventura, A., Liu, Y., et al. (2018) · Cell Systems

Cancer Genomics and DiagnosticsCancer-related Molecular Pathways

Cited by 431

Whole-genome and multisector exome sequencing of primary and post-treatment glioblastoma reveals patterns of tumor evolution

Kim, H., Zheng, S., Amini, S. S., Virk, S. M., Mikkelsen, T., Brat, D. J., Grimsby, J., Sougnez, C., Muller, F., Hu, J., et al. (2015) · Genome Research

Glioma Diagnosis and TreatmentCancer Genomics and Diagnostics

Cited by 411

Pangenomics enables genotyping of known structural variants in 5202 diverse genomes

Sirén, J., Monlong, J., Chang, X., Novak, A. M., Eizenga, J. M., Markello, C., Sibbesen, J. A., Hickey, G., Chang, P.-C., Carroll, A., et al. (2021) · Science

Genomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalities

Cited by 400

Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics

Ding, L., Bailey, M. H., Porta-Pardo, E., Thorsson, V., Colaprico, A., Bertrand, D., Gibbs, D. L., Weerasinghe, A., Huang, K.-L., Tokheim, C., et al. (2018) · Cell

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 399

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Greater Middle East Variome Consortium, Scott, E. M., Halees, A., Itan, Y., Spencer, E. G., He, Y., Azab, M. A., Gabriel, S. B., Belkadi, A., Boisson, B., et al. (2016) · Nature Genetics

Genomics and Rare DiseasesForensic and Genetic Research

Cited by 376

Structural Alterations Driving Castration-Resistant Prostate Cancer Revealed by Linked-Read Genome Sequencing

Viswanathan, S. R., Ha, G., Hoff, A. M., Wala, J. A., Carrot-Zhang, J., Whelan, C. W., Haradhvala, N. J., Freeman, S. S., Reed, S. C., Rhoades, J., et al. (2018) · Cell

Prostate Cancer Treatment and ResearchChromatin Remodeling and Cancer

Cited by 365

The All of Us Research Program: Data quality, utility, and diversity

Ramirez, A. H., Sulieman, L., Schlueter, D. J., Halvorson, A., Qian, J., Ratsimbazafy, F., Loperena, R., Mayo, K., Basford, M., Deflaux, N., et al. (2022) · Patterns

Electronic Health Records SystemsEthics in Clinical Research

Cited by 352