Dermitzakis, Emmanouil T.

Genetic evidence of assortative mating in humans

Robinson, M. R., Kleinman, A., Graff, M., Vinkhuyzen, A. A. E., Couper, D., Miller, M. B., Peyrot, W. J., Abdellaoui, A., Zietsch, B. P., Nolte, I. M., et al. (2017) · Nature Human Behaviour

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 326

Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation

Tsaprouni, L. G., Yang, T.-P., Bell, J., Dick, K. J., Kanoni, S., Nisbet, J., Viñuela, A., Grundberg, E., Nelson, C. P., Meduri, E., et al. (2014) · Epigenetics

Epigenetics and DNA MethylationSmoking Behavior and Cessation

Cited by 319

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

The Genotype-Tissue Expression (GTEx) project

Lonsdale, J., Thomas, J., Salvatore, M., Phillips, R., Lo, E., Shad, S., Hasz, R., Walters, G., Garcia, F., Young, N., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 263

Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories

The GEUVADIS Consortium, 't Hoen, P. A. C., Friedländer, M. R., Almlöf, J., Sammeth, M., Pulyakhina, I., Anvar, S. Y., Laros, J. F. J., Buermans, H. P. J., Karlberg, O., et al. (2013) · Nature Biotechnology

Genomics and Phylogenetic StudiesGene expression and cancer classification

Cited by 250

Socioeconomic position, lifestyle habits and biomarkers of epigenetic aging: a multi-cohort analysis

Fiorito, G., the BIOS Consortium, the Lifepath consortium, McCrory, C., Robinson, O., Carmeli, C., Rosales, C. O., Zhang, Y., Colicino, E., Dugué, P.-A., et al. (2019) · Aging

Epigenetics and DNA MethylationHealth disparities and outcomes

Cited by 219

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

Waszak, S. M., Delaneau, O., Gschwind, A. R., Kilpinen, H., Raghav, S. K., Witwicki, R. M., Orioli, A., Wiederkehr, M., Panousis, N. I., Yurovsky, A., et al. (2015) · Cell

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 214

Estimating the causal tissues for complex traits and diseases

GTEx Consortium, Ongen, H., Brown, A. A., Delaneau, O., Panousis, N. I., Nica, A. C., & Dermitzakis, E. T. (2017) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 198

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

Nica, A. C., Ongen, H., Irminger, J.-C., Bosco, D., Berney, T., Antonarakis, S. E., Halban, P. A., & Dermitzakis, E. T. (2013) · Genome Research

Pancreatic function and diabetesDiabetes and associated disorders

Cited by 189

Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D

Viñuela, A., Varshney, A., van de Bunt, M., Prasad, R. B., Asplund, O., Bennett, A., Boehnke, M., Brown, A. A., Erdos, M. R., Fadista, J., et al. (2020) · Nature Communications

Genetic Associations and EpidemiologyPancreatic function and diabetes

Cited by 152

Transcriptomic analyses reveal rhythmic and CLOCK-driven pathways in human skeletal muscle

Perrin, L., Loizides-Mangold, U., Chanon, S., Gobet, C., Hulo, N., Isenegger, L., Weger, B. D., Migliavacca, E., Charpagne, A., Betts, J. A., et al. (2018) · eLife

Circadian rhythm and melatoninMetabolism, Diabetes, and Cancer

Cited by 139

Biased Allelic Expression in Human Primary Fibroblast Single Cells

Borel, C., Ferreira, P. G., Santoni, F., Delaneau, O., Fort, A., Popadin, K. Y., Garieri, M., Falconnet, E., Ribaux, P., Guipponi, M., et al. (2015) · The American Journal of Human Genetics

Single-cell and spatial transcriptomicsRNA Research and Splicing

Cited by 120

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 118

Predicting and elucidating the etiology of fatty liver disease: a machine learning modeling and validation study in the IMI DIRECT cohorts

Atabaki-Pasdar, N., Ohlsson, M., Viñuela, A., Frau, F., Pomares-Millan, H., Haid, M., Jones, A. G., Thomas, E. L., Koivula, R. W., Kurbasic, A., et al. (2020) · PLOS Medicine

Liver Disease Diagnosis and TreatmentAlcohol Consumption and Health Effects

Cited by 97

MBV : a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets

Fort, A., Panousis, N. I., Garieri, M., Antonarakis, S. E., Lappalainen, T., Dermitzakis, E. T., & Delaneau, O. (2017) · Bioinformatics

Genomics and Phylogenetic StudiesGenetic Associations and Epidemiology

Cited by 60