Lappalainen, Tuuli

A global reference for human genetic variation

The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 18,247

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

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

Genome-wide association studies

Uffelmann, E., Huang, Q. Q., Munung, N. S., de Vries, J., Okada, Y., Martin, A. R., Martin, H. C., Lappalainen, T., & Posthuma, D. (2021) · Nature Reviews Methods Primers

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,849

The human transcriptome across tissues and individuals

Melé, M., Ferreira, P. G., Reverter, F., DeLuca, D. S., Monlong, J., Sammeth, M., Young, T. R., Goldmann, J. M., Pervouchine, D. D., Sullivan, T. J., et al. (2015) · Science

RNA Research and SplicingGene expression and cancer classification

Cited by 1,304

Landscape of X chromosome inactivation across human tissues

GTEx Consortium, Tukiainen, T., Villani, A.-C., Yen, A., Rivas, M. A., Marshall, J. L., Satija, R., Aguirre, M., Gauthier, L., Fleharty, M., et al. (2017) · Nature

Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesGenomics and Chromatin Dynamics

Cited by 1,138

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

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

Tools and best practices for data processing in allelic expression analysis.

Castel, S. E., Levy-Moonshine, A., Mohammadi, P., Banks, E., & Lappalainen, T. (2015) · Genome Biology

Genomics and Phylogenetic StudiesRNA Research and Splicing

Cited by 375

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

Associating cellular epigenetic models with human phenotypes

Lappalainen, T., & Greally, J. M. (2017) · Nature Reviews Genetics

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

Cited by 282

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

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Coban-Akdemir, Z., White, J. J., Song, X., Jhangiani, S. N., Fatih, J. M., Gambin, T., Bayram, Y., Chinn, I. K., Karaca, E., Punetha, J., et al. (2018) · The American Journal of Human Genetics

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 219

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk

Castel, S. E., Cervera, A., Mohammadi, P., Aguet, F., Reverter, F., Wolman, A., Guigo, R., Iossifov, I., Vasileva, A., & Lappalainen, T. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 217

Discovery of target genes and pathways at GWAS loci by pooled single-cell CRISPR screens

Morris, J. A., Caragine, C., Daniloski, Z., Domingo, J., Barry, T., Lu, L., Davis, K., Ziosi, M., Glinos, D. A., Hao, S., et al. (2023) · Science

Genetic Associations and EpidemiologyCRISPR and Genetic Engineering

Cited by 208

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

Distinct Variants at LIN28B Influence Growth in Height from Birth to Adulthood

Widén, E., Ripatti, S., Cousminer, D. L., Surakka, I., Lappalainen, T., Järvelin, M.-R., Eriksson, J. G., Raitakari, O., Salomaa, V., Sovio, U., et al. (2010) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyHypothalamic control of reproductive hormones

Cited by 88

Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Barbeira, A. N., Dickinson, S. P., Bonazzola, R., Zheng, J., Wheeler, H. E., Torres, J. M., Torstenson, E. S., Shah, K. P., Garcia, T., Edwards, T. L., et al. (2018) · Nature Communications

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 69

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

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. (2014) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 49

Nonlinear transcriptional responses to gradual modulation of transcription factor dosage

Domingo, J., Minaeva, M., Morris, J. A., Ghatan, S., Ziosi, M., Sanjana, N. E., & Lappalainen, T. (2024) · eLife

CRISPR and Genetic EngineeringGenomics and Chromatin Dynamics

Cited by 18