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

Statistical significance for genomewide studies

Storey, J. D., & Tibshirani, R. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1530509100 · Cited by 9,692

Merlin—rapid analysis of dense genetic maps using sparse gene flow trees

Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323

Mapping short DNA sequencing reads and calling variants using mapping quality scores

Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research · doi:10.1101/gr.078212.108 · Cited by 2,638

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

Li, Y., Willer, C. J., Ding, J., Scheet, P., & Abecasis, G. R. (2010) · Genetic Epidemiology · doi:10.1002/gepi.20533 · Cited by 1,843

GenABEL: an R library for genome-wide association analysis

Aulchenko, Y. S., Ripke, S., Isaacs, A., & van Duijn, C. M. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btm108 · Cited by 1,836

Missing heritability and strategies for finding the underlying causes of complex disease

Eichler, E. E., Flint, J., Gibson, G. C., Kong, A., Leal, S. M., Moore, J. H., & Nadeau, J. H. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2809 · Cited by 1,728

ALSPAC–The Avon Longitudinal Study of Parents and Children

Golding, Pembrey, Jones, & The Alspac Study Team (2001) · Paediatric and Perinatal Epidemiology · doi:10.1046/j.1365-3016.2001.00325.x · Cited by 1,549

Genetics of gene expression and its effect on disease

Emilsson, V., Thorleifsson, G., Zhang, B., Leonardson, A. S., Zink, F., Zhu, J., Carlson, S., Helgason, A., Walters, G. B., Gunnarsdottir, S., et al. (2008) · Nature · doi:10.1038/nature06758 · Cited by 1,296

Population genomics of human gene expression

Stranger, B. E., Nica, A. C., Forrest, M. S., Dimas, A. S., Bird, C., Beazley, C., Ingle, C., Dunning, M., Flicek, P., Koller, D., et al. (2007) · Nature Genetics · doi:10.1038/ng2142 · Cited by 1,151

The Fine-Scale Structure of Recombination Rate Variation in the Human Genome

McVean, G., Myers, S., Hunt, S. E., Deloukas, P., Bentley, D., & Donnelly, P. (2004) · Science · doi:10.1126/science.1092500 · Cited by 989

Higher chylomicron remnants and LDL particle numbers associate with CD36 SNPs and DNA methylation sites that reduce CD36

Love-Gregory, L. D., Kraja, A. T., Allum, F., Aslibekyan, S. W., Hedman, Å. K., Duan, Y., Borecki, I. B., Arnett, D. K., McCarthy, M. I., Deloukas, P., et al. (2016) · Journal of Lipid Research · doi:10.1194/jlr.p065250 · Cited by 37

Fast and covariate-adaptive method amplifies detection power in large-scale multiple hypothesis testing

Zhang, M. J., Xia, F., & Zou, J. (2019) · Nature Communications · doi:10.1038/s41467-019-11247-0 · Cited by 37

Hypotheses on a tree: new error rates and testing strategies

Bogomolov, M., Peterson, C. B., Benjamini, Y., & Sabatti, C. (2020) · Biometrika · doi:10.1093/biomet/asaa086 · Cited by 52

FASTKD2 is associated with memory and hippocampal structure in older adults

Ramanan, V. K., Nho, K. T., Shen, L., Risacher, S. L., Kim, S., McDonald, B. C., Farlow, M. R., Foroud, T., Gao, S., Soininen, H. S., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.142 · Cited by 37

Additive, Epistatic, and Environmental Effects Through the Lens of Expression Variability QTL in a Twin Cohort

Wang, G., Yang, E., Brinkmeyer‐Langford, C., & Cai, J. J. (2013) · Genetics · doi:10.1534/genetics.113.157503 · Cited by 36

Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes

Glastonbury, C. A., Viñuela, A., Buil, A., Halldorsson, G. H., Þorleifsson, G., Helgason, H., Þorsteinsdóttir, U., Stefánsson, K., Dermitzakis, E. T., Spector, T. D., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.07.001 · Cited by 35

Time-dependent genetic effects on gene expression implicate aging processesPreprint

Bryois, J., Buil, A., Ferreira, P. G., Panousis, N. I., Brown, A. A., Viñuela, A., Planchon, A., Bielser, D., Small, K. S., Spector, T. D., et al. (2017) · Genome Research · doi:10.1101/gr.207688.116 · Cited by 37

Gene Age Predicts the Strength of Purifying Selection Acting on Gene Expression Variation in Humans

Popadin, K. Y., Gutiérrez‐Arcelus, M., Lappalainen, T., Buil, A., Steinberg, J., Nikolaev, S. I., Lukowski, S. W., Bazykin, G. A., Seplyarskiy, V. B., Ioannidis, P., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.11.003 · Cited by 37

Hypothalamic transcriptomes of 99 mouse strains reveal trans eQTL hotspots, splicing QTLs and novel non-coding genes

Hasin-Brumshtein, Y., Khan, A. H., Hormozdiari, F., Pan, C., Parks, B. W., Petyuk, V., Piehowski, P., Brümmer, A., Pellegrini, M. A., Xiao, X. G., et al. (2016) · eLife · doi:10.7554/elife.15614 · Cited by 34

Sex-stratified genome-wide association meta-analysis of major depressive disorder

Thomas, J. T., Thorp, J. G., Huider, F., Grimes, P. Z., Wang, R., Youssef, P., Coleman, J. R. I., Byrne, E. M., Adams, M. J., van Loo, H. M., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-63236-1 · Cited by 36

Transcriptional Enhancers: Bridging the Genome and PhenomePreprint

Ren, B., & Yue, F. (2015) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2015.80.027219 · Cited by 34

Association of breast cancer risk loci with breast cancer survival

Barrdahl, M., Canzian, F., Lindström, S., Shui, I. M., Black, A., Hoover, R. N., Ziegler, R. G., Buring, J. E., Chanock, S. J., Diver, W. R., et al. (2015) · International Journal of Cancer · doi:10.1002/ijc.29446 · Cited by 32

Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma

Roos, L., Sandling, J. K., Bell, C. G., Glass, D., Mangino, M., Spector, T. D., Deloukas, P., Bataille, V. A., & Bell, J. T. (2016) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2016.11.029 · Cited by 30

Using pharmacogenetics to predict methotrexate response in rheumatoid arthritis patients

Szostak, B., Machaj, F., Rosik, J., & Pawlik, A. (2020) · Expert Opinion on Drug Metabolism & Toxicology · doi:10.1080/17425255.2020.1777279 · Cited by 32

PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6

Oparina, N. Y., Delgado-Vega, A. M., Martínez‐Bueno, M., Magro‐Checa, C., Fernández, C., Castro, R. O., Pons‐Estel, B. A., D’Alfonso, S., Sebastiani, G. D., Witte, T., et al. (2014) · Annals of the Rheumatic Diseases · doi:10.1136/annrheumdis-2013-204909 · Cited by 33

Tissue-Specific and Genetic Regulation of Insulin Sensitivity-Associated Transcripts in African Americans

Sharma, N., Sajuthi, S. P., Chou, J. W., Calles-Escandón, J., Demons, J. L., Rogers, S. D., Ma, L., Palmer, N. D., McWilliams, D. R., Beal, J., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2015-3336 · Cited by 34

Ethnic specific association of the CAV1/CAV2 locus with primary open-angle glaucoma

Rong, S. S., Chen, L. J., Leung, C. K.-S., Matsushita, K., Jia, L., Miki, A., Chiang, S. W. Y., Tam, P. O. S., Hashida, N., Young, A. L., et al. (2016) · Scientific Reports · doi:10.1038/srep27837 · Cited by 31

MicroRNA-196a links human body fat distribution to adipose tissue extracellular matrix composition

Hilton, C., Neville, M. J., Wittemans, L. B. L., Todorčević, M., Pinnick, K. E., Pulit, S. L., Luan, J., Kulyté, A., Dahlman, I. A., Wareham, N. J., et al. (2019) · EBioMedicine · doi:10.1016/j.ebiom.2019.05.047 · Cited by 30

Environmental perturbations lead to extensive directional shifts in RNA processing

Richards, A. L., Watza, D., Findley, A. S., Alazizi, A., Wen, X., Pai, A. A., Piqué-Regi, R., & Luca, F. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006995 · Cited by 31

An autoimmune disease risk variant: A trans master regulatory effect mediated by IRF1 under immune stimulation?

Brandt, M. K., Kim-Hellmuth, S., Ziosi, M., Gokden, A., Wolman, A., Lam, N., Recinos, Y., Daniloski, Z., Morris, J. A., Hornung, V., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009684 · Cited by 27

Chromatin accessibility and gene expression during adipocyte differentiation identify context-dependent effects at cardiometabolic GWAS loci

Perrin, H. J., Currin, K. W., Vadlamudi, S., Pandey, G. K., Ng, K. K. H., Wabitsch, M., Laakso, M., Love, M. I., & Mohlke, K. L. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009865 · Cited by 29

Identification of transcriptional regulatory variants in pig duodenum, liver, and muscle tissues

Crespo‐Piazuelo, D., Acloque, H., González-Rodríguez, O., Mongellaz, M., Mercat, M.-J., Bink, M. C. A. M., Huisman, A., Ramayo‐Caldas, Y., Sánchez, J. P., & Ballester, M. (2022) · GigaScience · doi:10.1093/gigascience/giad042 · Cited by 30

Accurate and Fast Multiple-Testing Correction in eQTL Studies

Sul, J. H., Raj, T., de Jong, S., de Bakker, P. I. W., Raychaudhuri, S., Ophoff, R. A., Stranger, B. E., Eskin, E., & Han, B. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.04.012 · Cited by 30

Exploiting Gene Expression Variation to Capture Gene-Environment Interactions for Disease

Idaghdour, Y., & Awadalla, P. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2012.00228 · Cited by 33

Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length

Laisk, T., Kukuškina, V., Palmer, D. S., Laber, S., Chen, C., Ferreira, T. C., Rahmioğlu, N., Zondervan, K. T., Becker, C. M., Smoller, J. W., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy317 · Cited by 37

Genetic Susceptibility Loci for Cardiovascular Disease and Their Impact on Atherosclerotic Plaques

van der Laan, S. W., Siemelink, M. A., Haitjema, S., Asl, H. F., Matic, L. P., Mokrý, M., van Setten, J., Malik, R., Dichgans, M., Worrall, B. B., et al. (2018) · Circulation Genomic and Precision Medicine · doi:10.1161/circgen.118.002115 · Cited by 30

LDexpress: an online tool for integrating population-specific linkage disequilibrium patterns with tissue-specific expression data

Lin, S., Thakur, R., & Machiela, M. J. (2021) · BMC Bioinformatics · doi:10.1186/s12859-021-04531-8 · Cited by 27

Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes

Leyden, G. M., Shapland, C. Y., Smith, G. D., Sanderson, E. C. M., Greenwood, M. P., Murphy, D., & Richardson, T. G. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.12.013 · Cited by 29

Expression reflects population structure

Brown, B. C., Bray, N., & Pachter, L. S. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007841 · Cited by 32

Genetic risk variants associated with in situ breast cancer

Campa, D., Barrdahl, M., Gaudet, M. M., Black, A., Chanock, S. J., Diver, W. R., Gapstur, S. M., Haiman, C. A., Hankinson, S. E., Hazra, A., et al. (2015) · Breast Cancer Research · doi:10.1186/s13058-015-0596-x · Cited by 30

Tissue specificity of genetic regulation of gene expression

Göring, H. H. H. (2012) · Nature Genetics · doi:10.1038/ng.2420 · Cited by 28

Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants

Delgado-Vega, A. M., Martínez‐Bueno, M., Oparina, N. Y., Herráez, D. L., Kristjansdottir, H., Steinsson, K., Kozyrev, S. V., & Alarcón-Riquelme, M. E. (2018) · Scientific Reports · doi:10.1038/s41598-018-26274-y · Cited by 30

Variants near the HLA complex group 22 gene (HCG22) confer increased susceptibility to late-onset asthma in Japanese populations

Yatagai, Y., Hirota, T., Sakamoto, T., Yamada, H., Masuko, H., Kaneko, Y., Iijima, H., Naito, T., Noguchi, E., Tamari, M., et al. (2016) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2015.11.023 · Cited by 28

The genetic overlap between mood disorders and cardio-metabolic diseases: A systematic review of genome wide and candidate gene studiesPreprint

Amare, A. T., Schubert, K. O., Cohen‐Woods, S., & Baune, B. T. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/150615 · Cited by 29

A symbiotic liaison between the genetic and epigenetic code

Heyn, H. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00113 · Cited by 29

Bayesian Network Reconstruction Using Systems Genetics Data: Comparison of MCMC Methods

Tasaki, S., Sauerwine, B., Hoff, B., Toyoshiba, H., Gaiteri, C., & Neto, E. C. (2015) · Genetics · doi:10.1534/genetics.114.172619 · Cited by 27

Triangulating Molecular Evidence to Prioritize Candidate Causal Genes at Established Atopic Dermatitis Loci

Sobczyk, M., Richardson, T. G., Zuber, V., Min, J. L., GoDMC, Gaunt, T. R., & Paternoster, L. (2021) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2021.03.027 · Cited by 28

Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry

Demirci, F. Y., Wang, X., Kelly, J. A., Morris, D. L., Barmada, M. M., Feingold, E., Kao, A. H., Sivils, K. L. M., Bernatsky, S., Pineau, C. A., et al. (2015) · Arthritis & Rheumatology · doi:10.1002/art.39403 · Cited by 28

Variants in ALOX5, ALOX5AP and LTA4H are not associated with atherosclerotic plaque phenotypes: The Athero-Express Genomics Study

van der Laan, S. W., Asl, H. F., van den Borne, P., van Setten, J., van der Perk, M. E. M., van de Weg, S. M., Schoneveld, A. H., de Kleijn, D. P. V., Michoel, T., Björkegren, J., et al. (2015) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2015.01.018 · Cited by 26

Epigenome-Wide DNA Methylation in Hearing Ability: New Mechanisms for an Old Problem

Wolber, L. E., Steves, C. J., Tsai, P.-C., Deloukas, P., Spector, T. D., Bell, J. T., & Williams, F. M. K. (2014) · PLoS ONE · doi:10.1371/journal.pone.0105729 · Cited by 28

Genetic loci associated with ideal cardiovascular health: A meta-analysis of genome-wide association studies

Allen, N. B., Lloyd‐Jones, D. M., Hwang, S., Rasmussen‐Torvik, L. J., Fornage, M., Morrison, A. C., Baldridge, A. S., Boerwinkle, E., Levy, D. A., Cupples, L. A., et al. (2016) · American Heart Journal · doi:10.1016/j.ahj.2015.12.022 · Cited by 30

Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations

Chen, B. H., Hivert, M., Peters, M. J., Pilling, L. C., Hogan, J., Pham, L., Harries, L. W., Fox, C. S., Bandinelli, S., Dehghan, A., et al. (2016) · Diabetes · doi:10.2337/db16-0470 · Cited by 28

COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression

Nedeljkovic, I., Lahousse, L., Carnero‐Montoro, E., Faiz, A., Vonk, J. M., de Jong, K., van der Plaat, D. A., van Diemen, C. C., van den Berge, M., Obeidat, M., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx390 · Cited by 28

A family-based genome-wide association study of chronic rhinosinusitis with nasal polyps implicates several genes in the disease pathogenesis

Bohman, A., Juodakis, J., Oscarsson, M., Bačelis, J., Bende, M., & Naluai, Å. T. (2017) · PLoS ONE · doi:10.1371/journal.pone.0185244 · Cited by 28

Self-supervised learning for characterising histomorphological diversity and spatial RNA expression prediction across 23 human tissue types

Cisternino, F., Ometto, S., Chatterjee, S., Giacopuzzi, E., Levine, A. P., & Glastonbury, C. A. (2024) · Nature Communications · doi:10.1038/s41467-024-50317-w · Cited by 27

Genetic and Environmental Effects on Gene Expression Signatures of Blood Pressure

Huang, Y., Ollikainen, M., Sipilä, P. N., Mustelin, L., Wang, X., Su, S., Huan, T., Levy, D. A., Wilson, J., Snieder, H., et al. (2018) · Hypertension · doi:10.1161/hypertensionaha.117.10527 · Cited by 27

Analysis of Genes Associated With Monogenic Primary Immunodeficiency Identifies Rare Variants in XIAP in Patients With Crohn’s Disease

Amininejad, L., Charloteaux, B., Théâtre, E., Liefferinckx, C., Dmitrieva, J., Hayard, P., Muls, V., Maisin, J.-M., Schapira, M., Ghislain, J.-M., et al. (2018) · Gastroenterology · doi:10.1053/j.gastro.2018.02.028 · Cited by 27

RNAseq analysis of bronchial epithelial cells to identify COPD-associated genes and SNPs

Yeo, J., Morales, D. A., Chen, T., Crawford, E. L., Zhang, X., Blomquist, T. M., Levin, A. M., Massion, P. P., Arenberg, D. A., Midthun, D. E., et al. (2018) · BMC Pulmonary Medicine · doi:10.1186/s12890-018-0603-y · Cited by 28

Characterization of the transcriptional divergence between the subspecies of cultivated rice (Oryza sativa)

Campbell, M. T., Du, Q., Liu, K., Sharma, S., Zhang, C., & Walia, H. (2020) · BMC Genomics · doi:10.1186/s12864-020-06786-6 · Cited by 27

AKR1C2 and AKR1C3 expression in adipose tissue: Association with body fat distribution and regulatory variants

Ostinelli, G., Vijay, J., Vohl, M., Grundberg, E., & Tchernof, A. (2021) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2021.111220 · Cited by 28

Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable

Zito, A., Roberts, A. L., Visconti, A., Rossi, N., Ejarque, R. A., Nardone, S., Moustafa, J. S. E.-S., Falchi, M., & Small, K. S. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010556 · Cited by 28

Rs4878104 contributes to Alzheimer’s disease risk and regulates DAPK1 gene expression

Hu, Y., Cheng, L., Zhang, Y., Bai, W.-Y., Zhou, W., Wang, T., Han, Z., Zong, J., Jin, S., Zhang, J., et al. (2017) · Neurological Sciences · doi:10.1007/s10072-017-2959-9 · Cited by 26

A trans-eQTL network regulates osteoclast multinucleation and bone mass

Pereira, M., Ko, J., Logan, J. G., Protheroe, H., Kim, K., Tan, A. L. M., Croucher, P. I., Park, K.-S., Rotival, M., Petretto, E. G., et al. (2020) · eLife · doi:10.7554/elife.55549 · Cited by 28

Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets

Dong, Z., Ma, Y., Zhou, H., Shi, L., Ye, G., Yang, L., Liu, P., & Zhou, L. P. (2020) · BMC Pulmonary Medicine · doi:10.1186/s12890-020-01303-7 · Cited by 25

Predict long-range enhancer regulation based on protein–protein interactions between transcription factors

Wang, H., Huang, B., & Wang, J. (2021) · Nucleic Acids Research · doi:10.1093/nar/gkab841 · Cited by 26

Reconstruct high-resolution 3D genome structures for diverse cell-types using FLAMINGO

Wang, H., Yang, J., Zhang, Y., Qian, J., & Wang, J. (2022) · Nature Communications · doi:10.1038/s41467-022-30270-2 · Cited by 28

Inherited variation in the PARP1 gene and survival from melanoma

Davies, J. R., Jewell, R., Affleck, P., Anic, G. M., Randerson‐Moor, J. A., Ozola, A., Egan, K. M., Elliott, F., García‐Casado, Z., Hansson, J., et al. (2014) · International Journal of Cancer · doi:10.1002/ijc.28796 · Cited by 26

CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients

Horswell, S. D., Fryer, L. G. D., Hutchison, C. E., Zindrou, D., Speedy, H. E., Town, M. M., Duncan, E. J., Sivapackianathan, R., Patel, H., Jones, E. L., et al. (2013) · Journal of Lipid Research · doi:10.1194/jlr.m041814 · Cited by 28

Characterising cis -regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues

Zhang, M., Lykke‐Andersen, S., Zhu, B., Xiao, W., Hoskins, J. W., Zhang, X., Rost, L. M., Collins, I. J., van de Bunt, M., Jia, J., et al. (2017) · Gut · doi:10.1136/gutjnl-2016-313146 · Cited by 26

Expression-associated polymorphisms of CAV1-CAV2 affect intraocular pressure and high-tension glaucoma risk.

Kim, S., Kim, K., Heo, D. W., Kim, J.-S., Park, C. K., Kim, C. S., & Kang, C. (2015) · Europe PMC (PubMed Central) · Cited by 26

Natural variation in the histone demethylase, KDM4C, influences expression levels of specific genes including those that affect cell growthPreprint

Gregory, B. L., & Cheung, V. G. (2013) · Genome Research · doi:10.1101/gr.156141.113 · Cited by 28

Variation inPPARGIs Associated With Longitudinal Change in Insulin Resistance in Mexican Americans at Risk for Type 2 Diabetes

Black, M. H., Wu, J., Takayanagi, M., Wang, N., Taylor, K. D., Haritunians, T., Trigo, E., Lawrence, J. M., Watanabe, R. M., Buchanan, T. A., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-3246 · Cited by 25

Genetic and Nongenetic Variation Revealed for the Principal Components of Human Gene Expression

Goldinger, A., Henders, A. K., McRae, A. F., Martin, N. G., Gibson, G. C., Montgomery, G. W., Visscher, P. M., & Powell, J. E. (2013) · Genetics · doi:10.1534/genetics.113.153221 · Cited by 25

Bayesian integration of genetics and epigenetics detects causal regulatory SNPs underlying expression variability

Das, A., Morley, M. P., Moravec, C. S., Tang, W. H. W., Hakonarson, H. H., Ashley, E. A., Brandimarto, J., Hu, R., Li, M., Li, H., et al. (2015) · Nature Communications · doi:10.1038/ncomms9555 · Cited by 25

Modelling local gene networks increases power to detect trans-acting genetic effects on gene expression

Rakitsch, B., & Stegle, O. (2016) · Genome biology · doi:10.1186/s13059-016-0895-2 · Cited by 25

Adipose tissue eQTL meta-analysis highlights the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits

Brotman, S. M., Moustafa, J. S. E.-S., Guan, L., Broadaway, K. A., Wang, D., Jackson, A., Welch, R., Currin, K. W., Tomlinson, M., Vadlamudi, S., et al. (2025) · Nature Genetics · doi:10.1038/s41588-024-01982-6 · Cited by 34

Allelic expression mapping across cellular lineages to establish impact of non‐coding SNPs

Adoue, V., Schiavi, A., Light, N. D., Almlöf, J. C., Lundmark, P., Ge, B., Kwan, T., Caron, M., Rönnblom, L., Wang, C., et al. (2014) · Molecular Systems Biology · doi:10.15252/msb.20145114 · Cited by 23

Genetic variants in the vitamin D pathway genes VDBP and RXRA modulate cutaneous melanoma disease‐specific survival

Yin, J., Liu, H., Yi, X., Wu, W., Amos, C. I., Fang, S., Lee, J. E., Han, J., & Wei, Q. (2015) · Pigment Cell & Melanoma Research · doi:10.1111/pcmr.12437 · Cited by 24

The Expression Quantitative Trait Loci in Immune Pathways and their Effect on Cutaneous Melanoma Prognosis

Vogelsang, M., Martinez, C. N., Rendleman, J., Bapodra, A., Malecek, K., Romanchuk, A., Kazlow, E., Shapiro, R. L., Berman, R. S., Krogsgaard, M., et al. (2016) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-15-2066 · Cited by 25

The Effect of Freeze-Thaw Cycles on Gene Expression Levels in Lymphoblastoid Cell Lines

Çalışkan, M., Pritchard, J. K., Ober, C., & Gilad, Y. (2014) · PLoS ONE · doi:10.1371/journal.pone.0107166 · Cited by 24

A systematic heritability analysis of the human whole blood transcriptome

Huan, T., Liu, C., Joehanes, R., Zhang, X., Chen, B. H., Johnson, A. D., Yao, C., Courchesne, P. L., O’Donnell, C. J., Munson, P. J., et al. (2015) · Human Genetics · doi:10.1007/s00439-014-1524-3 · Cited by 26

Novel Genetic Locus Implicated for HIV-1 Acquisition with Putative Regulatory Links to HIV Replication and Infectivity: A Genome-Wide Association Study

Johnson, E. O., Hancock, D. B., Gaddis, N., Levy, J. L., Page, G. P., Novak, S. P., Glasheen, C., Saccone, N. L., Rice, J. P., Moreau, M., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0118149 · Cited by 25

Genetic regulation of gene expression in the epileptic human hippocampus

Mirza, N., Appleton, R. E., Burn, S. C., du Plessis, D., Duncan, R., Farah, J. O., Feenstra, B., Hviid, A. P., Josan, V., Mohanraj, R., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx061 · Cited by 26

Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements

Allum, F., Hedman, Å. K., Shao, X., Cheung, W., Vijay, J., Guénard, F., Kwan, T., Simon, M.-M., Ge, B., de Moura, C. S., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09184-z · Cited by 26

Identification of relevant hub genes for early intervention at gene coexpression modules with altered predicted expression in schizophrenia

Rodriguez‐Lopez, J. A., Arrojo, M., Paz, E., Páramo, M., & Costas, J. (2019) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2019.109815 · Cited by 23

Next-generation sequencing in understanding complex neurological disease

Handel, A. E., Disanto, G., & Ramagopalan, S. V. (2013) · Expert Review of Neurotherapeutics · doi:10.1586/ern.12.165 · Cited by 24

Additional Candidate Genes for Human Atherosclerotic Disease Identified Through Annotation Based on Chromatin Organization

Haitjema, S., Meddens, C., van der Laan, S. W., Kofink, D., Harakaľová, M., Tragante, V., Asl, H. F., van Setten, J., Brandt, M. M., Bis, J. C., et al. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.116.001664 · Cited by 23

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

Yonova‐Doing, E., Zhao, W., Igo, R. P., Wang, C., Sundaresan, P., Lee, K. E., Jun, G., Alves, A. C., Chai, X., Chan, A. S. Y., et al. (2020) · Communications Biology · doi:10.1038/s42003-020-01421-2 · Cited by 25

Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation

Croteau‐Chonka, D. C., Rogers, A. J., Raj, T., McGeachie, M. J., Qiu, W., Ziniti, J. P., Stubbs, B. J., Liang, L., Martínez, F. D., Strunk, R. C., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0140758 · Cited by 24

Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma

Sud, A., Thomsen, H., Orlando, G., Försti, A., Law, P., Broderick, P., Cooke, R., Hariri, F., Pastinen, T., Easton, D. F., et al. (2018) · Blood · doi:10.1182/blood-2018-06-855296 · Cited by 23

Trouble With Tribbles-1

Jadhav, K. S., & Bauer, R. C. (2019) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.118.311573 · Cited by 23

Characterization of Expression Quantitative Trait Loci in the Human Colon

Singh, T., Levine, A. P., Smith, P. J., Smith, A. M., Segal, A. W., & Barrett, J. C. (2015) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000265 · Cited by 23

Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism

Studd, J. B., Yang, M., Li, Z., Vijayakrishnan, J., Lü, Y., Yeoh, A. E. J., Paulsson, K. M., & Houlston, R. S. (2018) · Leukemia · doi:10.1038/s41375-018-0184-z · Cited by 24

Genome-wide expression quantitative trait loci analysis in asthma

Bossé, Y. (2013) · Current Opinion in Allergy and Clinical Immunology · doi:10.1097/aci.0b013e328364e951 · Cited by 22

Genetics of human gene expression

Stranger, B. E., & Raj, T. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.10.004 · Cited by 23

rs401681 and rs402710 confer lung cancer susceptibility by regulating TERT expression instead of CLPTM1L in East Asian populations

Yang, Y., Fu, W., Zhang, J., Li, Z., Cai, S., & Sun, C. (2018) · Carcinogenesis · doi:10.1093/carcin/bgy084 · Cited by 22

Diverse environmental perturbations reveal the evolution and context-dependency of genetic effects on gene expression levelsPreprint

Lea, A. J., Peng, J., & Ayroles, J. F. (2022) · Genome Research · doi:10.1101/gr.276430.121 · Cited by 25

Expression quantitative trait analyses to identify causal genetic variants for type 2 diabetes susceptibility

Das, S. K., & Sharma, N. (2014) · World Journal of Diabetes · doi:10.4239/wjd.v5.i2.97 · Cited by 22

Enhancer Connectome Nominates Target Genes of Inherited Risk Variants from Inflammatory Skin Disorders

Jeng, M. Y., Mumbach, M. R., Granja, J. M., Satpathy, A. T., Chang, H. Y., & Chang, A. L. S. (2018) · Journal of Investigative Dermatology · doi:10.1016/j.jid.2018.09.011 · Cited by 22

Reanalysis of mGWAS results and in vitro validation show that lactate dehydrogenase interacts with branched-chain amino acid metabolism

Heemskerk, M. M., van Harmelen, V., van Dijk, K. W., & van Klinken, J. B. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2015.106 · Cited by 22

Five linkage regions each harbor multiple type 2 diabetes genes in the African American subset of the GENNID Study

Hasstedt, S. J., Highland, H. M., Elbein, S. C., Hanis, C. L., & Das, S. K. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.21 · Cited by 21

Association of genetic polymorphisms with survival of pancreatic ductal adenocarcinoma patients

Rizzato, C., Campa, D., Talar‐Wojnarowska, R., Halloran, C. M., Kupčinskas, J., Butturini, G., Mohelníková-Duchoňová, B., Sperti, C., Tjaden, C., Ghaneh, P., et al. (2016) · Carcinogenesis · doi:10.1093/carcin/bgw080 · Cited by 21

An ancestry‐based approach for detecting interactions

Park, D. S., Eskin, I., Kang, E. Y., Gamazon, E. R., Eng, C. S., Gignoux, C. R., Galanter, J., Burchard, E. G., Ye, C., Aschard, H., et al. (2017) · Genetic Epidemiology · doi:10.1002/gepi.22087 · Cited by 20

Radionuclide partitioning coefficients in soils and plants and their correlation.

Sheppard, M. I. (1985) · PubMed · Cited by 21

Efficient and accurate mixed model association tool for single-cell eQTL analysis

Zhou, W., Cuomo, A. S. E., Hu, L., Xue, A., Kanai, M., Liu, Y. C., Kang, T., Kim, Y., Rodriguez, A., Madduri, R., et al. (2026) · Nature Genetics · doi:10.1101/2024.05.15.24307317 · Cited by 24

Trans-genetic effects of circular RNA expression quantitative trait loci and potential causal mechanisms in autism

Mai, T., Chen, C.-Y., Chen, Y., Chiang, T.-W., & Chuang, T. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01714-4 · Cited by 18

Systems Biology and immune aging

O’Connor, J., Herrera, G., Martínez‐Romero, A., de Oyanguren, F. S., Díaz, L., Carvalho‐Gomes, Â., Balaguer, S., & Callaghan, R. C. (2014) · Immunology Letters · doi:10.1016/j.imlet.2014.09.009 · Cited by 24

A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders

Ghanbari, M., Peters, M. J., de Vries, P. S., Boer, C. G., van Rooij, J., Lee, Y., Kumar, V., Uitterlinden, A. G., Ikram, M. A., Wijmenga, C., et al. (2018) · Journal of Human Genetics · doi:10.1038/s10038-017-0403-x · Cited by 20

Linkage mapping of yeast cross protection connects gene expression variation to a higher-order organismal trait

Stuecker, T. N., Scholes, A. N., & Lewis, J. A. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007335 · Cited by 19

The Effect of Genetic Variation on the Placental Transcriptome in Humans

Kikas, T., Rull, K., Beaumont, R. N., Freathy, R. M., & Laan, M. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00550 · Cited by 23

Article Reference

(2016)

Quantifying the degree of sharing of genetic and non-genetic causes of gene expression variability across four tissuesPreprint

Buil, A., Viñuela, A., Brown, A. A., Davies, M. N., Padioleau, I., Bielser, D., Romano, L., Glass, D., Meglio, P. D., Small, K. S., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/053355 · Cited by 5

Heritability and genomics of gene expression in peripheral blood

Tzeng, J., Willemsen, G. A. H. M., Chen, T., Penninx, B. W. J. H., Huang, S., Todd, L., Shabalin, A. A., Gallins, P. J., Wang, W., Ha, M. J., et al. (2020) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/f9km-8536

Unraveling the Regulatory Mechanisms Underlying Tissue-Dependent Genetic Variation of Gene Expression

Fu, J., Wolfs, M. G. M., Deelen, P., Westra, H.-J., Fehrmann, R. S. N., Meerman, G. J. T., Buurman, W. A., Rensen, S. S., Groen, H. J. M., Weersma, R. K., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002431 · Cited by 218

Single-Tissue and Cross-Tissue Heritability of Gene Expression Via Identity-by-Descent in Related or Unrelated Individuals

Price, A. L., Helgason, A., Þorleifsson, G., McCarroll, S. A., Kong, A., & Stefánsson, K. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001317 · Cited by 198