Stephens, Matthew

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The GTEx Consortium, Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., et al. (2020) · Science

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 5,547

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

The GTEx Consortium, Ardlie, K. G., Deluca, D. S., Segrè, A. V., Sullivan, T. J., Young, T. R., Gelfand, E. T., Trowbridge, C. A., Maller, J. B., Tukiainen, T., et al. (2015) · Science

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 5,062

Genome-wide efficient mixed-model analysis for association studies

Zhou, X., & Stephens, M. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 3,627

Inferring weak population structure with the assistance of sample group information

HUBISZ, M. J., FALUSH, D., STEPHENS, M., & PRITCHARD, J. K. (2009) · Molecular Ecology Resources

Genetic diversity and population structureForensic and Genetic Research

Cited by 3,475

RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays

Marioni, J. C., Mason, C. E., Mane, S. M., Stephens, M., & Gilad, Y. (2008) · Genome Research

Genomics and Phylogenetic StudiesGene expression and cancer classification

Cited by 2,771

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,737

Genes mirror geography within Europe

Novembre, J., Johnson, T., Bryc, K., Kutalik, Z., Boyko, A. R., Auton, A., Indap, A., King, K. S., Bergmann, S., Nelson, M. R., et al. (2008) · Nature

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 1,479

Understanding mechanisms underlying human gene expression variation with RNA sequencing

Pickrell, J. K., Marioni, J. C., Pai, A. A., Degner, J. F., Engelhardt, B. E., Nkadori, E., Veyrieras, J.-B., Stephens, M., Gilad, Y., & Pritchard, J. K. (2010) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,256

A simple new approach to variable selection in regression, with application to genetic fine mapping

Wang, G., Sarkar, A., Carbonetto, P., & Stephens, M. (2020) · Journal of the Royal Statistical Society Series B (Statistical Methodology)

Statistical Methods and InferenceStatistical Methods and Applications

Cited by 1,121

Genotype Imputation with Thousands of Genomes

Howie, B., Marchini, J., & Stephens, M. (2011) · G3 Genes|Genomes|Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 966

Efficient multivariate linear mixed model algorithms for genome-wide association studies

Zhou, X., & Stephens, M. (2014) · Nature Methods

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 841

High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation

Veyrieras, J.-B., Kudaravalli, S., Kim, S. Y., Dermitzakis, E. T., Gilad, Y., Stephens, M., & Pritchard, J. K. (2008) · PLoS Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 536

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

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

Fine-mapping from summary data with the “Sum of Single Effects” model

Zou, Y., Carbonetto, P., Wang, G., & Stephens, M. (2022) · PLOS Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 429

A Comparison of Phasing Algorithms for Trios and Unrelated Individuals

Marchini, J., Cutler, D., Patterson, N., Stephens, M., Eskin, E., Halperin, E., Lin, S., Qin, Z. S., Munro, H. M., Abecasis, G. R., et al. (2006) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 341

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Separating measurement and expression models clarifies confusion in single-cell RNA sequencing analysis

Sarkar, A., & Stephens, M. (2021) · Nature Genetics

Single-cell and spatial transcriptomicsGene expression and cancer classification

Cited by 224

A statin-dependent QTL for GATM expression is associated with statin-induced myopathy

Mangravite, L. M., Engelhardt, B. E., Medina, M. W., Smith, J. D., Brown, C. D., Chasman, D. I., Mecham, B. H., Howie, B., Shim, H., Naidoo, D., et al. (2013) · Nature

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 224

An Estimate of the Average Number of Recessive Lethal Mutations Carried by Humans

Gao, Z., Waggoner, D., Stephens, M., Ober, C., & Przeworski, M. (2015) · Genetics

Evolution and Genetic DynamicsGenomics and Rare Diseases

Cited by 109

Discovery and characterization of variance QTLs in human induced pluripotent stem cells

Sarkar, A. K., Tung, P.-Y., Blischak, J. D., Burnett, J. E., Li, Y. I., Stephens, M., & Gilad, Y. (2019) · PLOS Genetics

Genetic Associations and EpidemiologySingle-cell and spatial transcriptomics

Cited by 72