Brilliant, Murray H.

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 1,544

Rare and low-frequency coding variants alter human adult height

Marouli, E., Graff, M., Medina-Gomez, C., Lo, K. S., Wood, A. R., Kjaer, T. R., Fine, R. S., Lu, Y., Schurmann, C., Highland, H. M., et al. (2017) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 610

Comparison of RNA-seq and microarray-based models for clinical endpoint prediction

Zhang, W., Yu, Y., Hertwig, F., Thierry-Mieg, J., Zhang, W., Thierry-Mieg, D., Wang, J., Furlanello, C., Devanarayan, V., Cheng, J., et al. (2015) · Genome Biology

Gene expression and cancer classificationNeuroblastoma Research and Treatments

Cited by 393

PCSK9 genetic variants and risk of type 2 diabetes: a mendelian randomisation study

Schmidt, A. F., Swerdlow, D. I., Holmes, M. V., Patel, R. S., Fairhurst-Hunter, Z., Lyall, D. M., Hartwig, F. P., Horta, B. L., Hyppönen, E., Power, C., et al. (2017) · The Lancet Diabetes & Endocrinology

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 380

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

Newton, J. M., Cohen-Barak, O., Hagiwara, N., Gardner, J. M., Davisson, M. T., King, R. A., & Brilliant, M. H. (2001) · The American Journal of Human Genetics

melanin and skin pigmentationGenetic and rare skin diseases.

Cited by 355

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

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

Van Driest, S. L., Wells, Q. S., Stallings, S., Bush, W. S., Gordon, A., Nickerson, D. A., Kim, J. H., Crosslin, D. R., Jarvik, G. P., Carrell, D. S., et al. (2016) · JAMA

Cardiac electrophysiology and arrhythmiasGenomics and Rare Diseases

Cited by 170

Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants

Karnes, J. H., Bastarache, L., Shaffer, C. M., Gaudieri, S., Xu, Y., Glazer, A. M., Mosley, J. D., Zhao, S., Raychaudhuri, S., Mallal, S., et al. (2017) · Science Translational Medicine

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 126

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Strunz, T., Lauwen, S., Kiel, C., International AMD Genomics Consortium (IAMDGC), Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., et al. (2020) · Scientific Reports

Genetic Associations and EpidemiologyRetinal Diseases and Treatments

Cited by 60

The underwhite (uw) locus acts autonomously and reduces the production of melanin

Lehman, A. L., Silvers, W. K., Puri, N., Wakamatsu, K., Ito, S., & Brilliant, M. H. (2000) · Journal of Investigative Dermatology

melanin and skin pigmentationMelanoma and MAPK Pathways

Cited by 42