Montgomery, Stephen B.

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

Transcriptome and genome sequencing uncovers functional variation in humans

The Geuvadis Consortium, Lappalainen, T., Sammeth, M., Friedländer, M. R., ‘t Hoen, P. A. C., Monlong, J., Rivas, M. A., Gonzàlez-Porta, M., Kurbatova, N., Griebel, T., et al. (2013) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 1,888

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

RNA Sequencing and Analysis

Kukurba, K. R., & Montgomery, S. B. (2015) · Cold Spring Harbor Protocols

Genomics and Phylogenetic StudiesSingle-cell and spatial transcriptomics

Cited by 924

Transcriptome genetics using second generation sequencing in a Caucasian population

Montgomery, S. B., Sammeth, M., Gutierrez-Arcelus, M., Lach, R. P., Ingle, C., Nisbett, J., Guigo, R., & Dermitzakis, E. T. (2010) · Nature

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 797

Mapping cis- and trans-regulatory effects across multiple tissues in twins

The Multiple Tissue Human Expression Resource (MuTHER) Consortium, Grundberg, E., Small, K. S., Hedman, Å. K., Nica, A. C., Buil, A., Keildson, S., Bell, J. T., Yang, T.-P., Meduri, E., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 729

Organ aging signatures in the plasma proteome track health and disease

Oh, H. S.-H., Rutledge, J., Nachun, D., Pálovics, R., Abiose, O., Moran-Losada, P., Channappa, D., Urey, D. Y., Kim, K., Sung, Y. J., et al. (2023) · Nature

Genetics, Aging, and Longevity in Model OrganismsDementia and Cognitive Impairment Research

Cited by 634

Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals

Battle, A., Mostafavi, S., Zhu, X., Potash, J. B., Weissman, M. M., McCormick, C., Haudenschild, C. D., Beckman, K. B., Shi, J., Mei, R., et al. (2014) · Genome Research

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 547

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

Molecular Choreography of Acute Exercise

Contrepois, K., Wu, S., Moneghetti, K. J., Hornburg, D., Ahadi, S., Tsai, M.-S., Metwally, A. A., Wei, E., Lee-McMullen, B., Quijada, J. V., et al. (2020) · Cell

Exercise and Physiological ResponsesCardiovascular and exercise physiology

Cited by 502

The impact of structural variation on human gene expression

GTEx Consortium, Chiang, C., Scott, A. J., Davis, J. R., Tsang, E. K., Li, X., Kim, Y., Hadzic, T., Damani, F. N., Ganel, L., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 495

Patterns of Cis Regulatory Variation in Diverse Human Populations

Stranger, B. E., Montgomery, S. B., Dimas, A. S., Parts, L., Stegle, O., Ingle, C. E., Sekowska, M., Smith, G. D., Evans, D., Gutierrez-Arcelus, M., et al. (2012) · PLoS Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 470

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

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

Gutierrez-Arcelus, M., Lappalainen, T., Montgomery, S. B., Buil, A., Ongen, H., Yurovsky, A., Bryois, J., Giger, T., Romano, L., Planchon, A., et al. (2013) · eLife

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

Cited by 440

Overexpression of the Cytokine BAFF and Autoimmunity Risk

Steri, M., Orrù, V., Idda, M. L., Pitzalis, M., Pala, M., Zara, I., Sidore, C., Faà, V., Floris, M., Deiana, M., et al. (2017) · New England Journal of Medicine

Systemic Lupus Erythematosus ResearchMultiple Sclerosis Research Studies

Cited by 382

Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements

Grundberg, E., Meduri, E., Sandling, J. K., Hedman, Å. K., Keildson, S., Buil, A., Busche, S., Yuan, W., Nisbet, J., Sekowska, M., et al. (2013) · The American Journal of Human Genetics

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

Cited by 370

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases

Corces, M. R., Shcherbina, A., Kundu, S., Gloudemans, M. J., Frésard, L., Granja, J. M., Louie, B. H., Eulalio, T., Shams, S., Bagdatli, S. T., et al. (2020) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 358

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Undiagnosed Diseases Network, Frésard, L., Care4Rare Canada Consortium, Smail, C., Ferraro, N. M., Teran, N. A., Li, X., Smith, K. S., Bonner, D., Kernohan, K. D., et al. (2019) · Nature Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 321

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

ORegAnno 3.0: a community-driven resource for curated regulatory annotation

Lesurf, R., Cotto, K. C., Wang, G., Griffith, M., Kasaian, K., Jones, S. J. M., Montgomery, S. B., Griffith, O. L., & The Open Regulatory Annotation Consortium (2016) · Nucleic Acids Research

Genomics and Chromatin DynamicsGenomics and Phylogenetic Studies

Cited by 201

Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing

Mostafavi, S., Battle, A., Zhu, X., Potash, J. B., Weissman, M. M., Shi, J., Beckman, K., Haudenschild, C., McCormick, C., Mei, R., et al. (2014) · Molecular Psychiatry

Tryptophan and brain disordersTreatment of Major Depression

Cited by 187

Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

Southam, L., Soranzo, N., Montgomery, S. B., Frayling, T. M., McCarthy, M. I., Barroso, I., & Zeggini, E. (2009) · Diabetologia

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 103

Molecular quantitative trait loci

Aguet, F., Alasoo, K., Li, Y. I., Battle, A., Im, H. K., Montgomery, S. B., & Lappalainen, T. (2023) · Nature Reviews Methods Primers

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 98

Genetic Regulatory Mechanisms of Smooth Muscle Cells Map to Coronary Artery Disease Risk Loci

Liu, B., Pjanic, M., Wang, T., Nguyen, T., Gloudemans, M., Rao, A., Castano, V. G., Nurnberg, S., Rader, D. J., Elwyn, S., et al. (2018) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 94