2026 Matthew Stephens: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	96	847	798	427	399	178	152802

Overview

Matthew Stephens is a researcher affiliated with the University of Chicago in the United States, specializing in the fields of Biochemistry, Genetics, and Molecular Biology. Their work spans multiple subfields including Molecular Biology, Genetics, Statistics and Probability, Cancer Research, and Artificial Intelligence.

Their research focuses on a range of topics related to genetics and molecular biology. Key topics covered in their publications include:

Single-cell and spatial transcriptomics
Genetic Associations and Epidemiology
Gene expression and cancer classification
Genetic Mapping and Diversity in Plants and Animals
Genetic and phenotypic traits in livestock
RNA modifications and cancer
RNA Research and Splicing

Among their recent papers are:

A Simple New Approach to Variable Selection in Regression, with Application to Genetic Fine Mapping (2020) published in the Journal of the Royal Statistical Society Series B (Statistical Methodology)
The impact of sex on gene expression across human tissues (2020) published in Science
Mendelian randomization accounting for correlated and uncorrelated pleiotropic effects using genome-wide summary statistics (2020) published in Nature Genetics
Cell type-specific genetic regulation of gene expression across human tissues (2020) published in Science
A Quantitative Proteome Map of the Human Body (2020) published in Cell

Frequent co-authors collaborating with Matthew Stephens include:

Peter Carbonetto (31 publications together)
Gao Wang (17 publications together)
Yuxin Zou (15 publications together)
François Aguet (11 publications together)
Ayellet V. Segrè (10 publications together)

Matthew Stephens has contributed numerous publications to a range of scientific venues. Among the most frequent are:

bioRxiv (Cold Spring Harbor Laboratory) with 12 publications
arXiv (Cornell University) with 10 publications
Nature Genetics with 6 publications
Zenodo (CERN European Organization for Nuclear Research) with 4 publications
Genome Biology with 3 publications

Best Publications

Inference of population structure using multilocus genotype data

Jonathan K. Pritchard;Matthew Stephens;Peter Donnelly

38389
Citations
Inference of Population Structure Using Multilocus Genotype Data: Linked Loci and Correlated Allele Frequencies

Daniel Falush;Matthew Stephens;Jonathan K. Pritchard

9251
Citations
A new statistical method for haplotype reconstruction from population data.

Matthew Stephens;Nicholas J. Smith;Peter Donnelly

8712
Citations
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

Kristin G. Ardlie;David S. Deluca;Ayellet V. Segrè

5739
Citations
The GTEx Consortium atlas of genetic regulatory effects across human tissues

F Aguet;AN Barbeira;R Bonazzola;A Brown

5530
Citations
A haplotype map of the human genome

John W. Belmont;Andrew Boudreau;Suzanne M. Leal;Paul Hardenbol

5528
Citations
A second generation human haplotype map of over 3.1 million SNPs

Kelly A. Frazer;Dennis G. Ballinger;David R. Cox;David A. Hinds

5383
Citations
Genetic effects on gene expression across human tissues.

Enhancing GTEx (eGTEx) groups

4280
Citations
A Comparison of Bayesian Methods for Haplotype Reconstruction from Population Genotype Data

Matthew Stephens;Peter Donnelly

4116
Citations
Inferring weak population structure with the assistance of sample group information.

Melissa J. Hubisz;Daniel Falush;Matthew Stephens;Jonathan K. Pritchard

3803
Citations
Inference of population structure using multilocus genotype data: dominant markers and null alleles

Daniel Falush;Matthew Stephens;Jonathan K. Pritchard

3676
Citations
RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays

John C. Marioni;Christopher E. Mason;Shrikant M. Mane;Matthew Stephens

3401
Citations
Genome-wide efficient mixed-model analysis for association studies.

Xiang Zhou;Matthew Stephens

3135
Citations
Genome-wide detection and characterization of positive selection in human populations

Pardis C. Sabeti;Pardis C. Sabeti;Patrick Varilly;Patrick Varilly;Ben Fry;Jason Lohmueller

2437
Citations
Association Mapping in Structured Populations

Jonathan K. Pritchard;Matthew Stephens;Noah A. Rosenberg;Peter Donnelly

2403
Citations
A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase.

Paul A Scheet;Matthew Stephens

2301
Citations
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing

Bryan Howie;Christian Fuchsberger;Matthew Stephens;Jonathan Marchini;Jonathan Marchini

1954
Citations
Genes mirror geography within Europe.

John Novembre;Toby Johnson;Toby Johnson;Katarzyna Bryc;Zoltán Kutalik

1802
Citations
The GTEx Consortium atlas of genetic regulatory effects across human tissues

François Aguet;Alvaro N Barbeira;Rodrigo Bonazzola;Andrew Brown

190
Citations
Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies.

Daniel Falush;Matthew Stephens;Jonathan K. Pritchard;sebnem ozemri sag

8
Citations

Frequent Co-Authors

Jonathan K. Pritchard Stanford University

Yoav Gilad University of Chicago

Emmanouil T. Dermitzakis University of Geneva

Xiaoquan Wen University of Michigan–Ann Arbor

John Novembre University of Chicago

Eric R. Gamazon Vanderbilt University Medical Center

Tuuli Lappalainen Royal Institute of Technology

Gad Getz Broad Institute

Peter Donnelly University of Oxford

Stephen B. Montgomery Stanford University

External Links

Wikipedia of Matthew Stephens Personal website of Matthew Stephens

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