Pastinen, Tomi

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., et al. (2010) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 1,945

Large-scale association analysis identifies new risk loci for coronary artery disease

The CARDIoGRAMplusC4D Consortium, Deloukas, P., DIAGRAM Consortium, CARDIOGENICS Consortium, MuTHER Consortium, Wellcome Trust Case Control Consortium, Kanoni, S., Willenborg, C., Farrall, M., Assimes, T. L., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,614

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,224

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

Chen, L., Ge, B., Casale, F. P., Vasquez, L., Kwan, T., Garrido-Martín, D., Watt, S., Yan, Y., Kundu, K., Ecker, S., et al. (2016) · Cell

Genetic Associations and EpidemiologyEpigenetics and DNA Methylation

Cited by 679

The relationship between DNA methylation, genetic and expression inter-individual variation in untransformed human fibroblasts

Wagner, J. R., Busche, S., Ge, B., Kwan, T., Pastinen, T., & Blanchette, M. (2014) · Genome biology

Epigenetics and DNA MethylationGenetic Associations and Epidemiology

Cited by 446

Introducing the Endotype Concept to Address the Challenge of Disease Heterogeneity in Type 1 Diabetes

Battaglia, M., Ahmed, S., Anderson, M. S., Atkinson, M. A., Becker, D., Bingley, P. J., Bosi, E., Brusko, T. M., DiMeglio, L. A., Evans-Molina, C., et al. (2020) · Diabetes Care

Diabetes and associated disordersDiabetes Management and Research

Cited by 351

Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease

Verlaan, D. J., Berlivet, S., Hunninghake, G. M., Madore, A.-M., Larivière, M., Moussette, S., Grundberg, E., Kwan, T., Ouimet, M., Ge, B., et al. (2009) · The American Journal of Human Genetics

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 297

Genome-wide allele-specific analysis: insights into regulatory variation

Pastinen, T. (2010) · Nature Reviews Genetics

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 291

The study of eQTL variations by RNA-seq: from SNPs to phenotypes

Majewski, J., & Pastinen, T. (2011) · Trends in Genetics

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 232

An epigenome-wide association study of total serum immunoglobulin E concentration

Liang, L., Willis-Owen, S. A. G., Laprise, C., Wong, K. C. C., Davies, G. A., Hudson, T. J., Binia, A., Hopkin, J. M., Yang, I. V., Grundberg, E., et al. (2015) · Nature

Epigenetics and DNA MethylationAsthma and respiratory diseases

Cited by 213

Pioneer factor pax7 deploys a stable enhancer repertoire for specification of cell fate

Mayran, A., Khetchoumian, K., Hariri, F., Pastinen, T., Gauthier, Y., Balsalobre, A., & Drouin, J. (2018) · Nature Genetics

Genomics and Chromatin DynamicsEpigenetics and DNA Methylation

Cited by 171

RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression

Lalonde, E., Ha, K. C. H., Wang, Z., Bemmo, A., Kleinman, C. L., Kwan, T., Pastinen, T., & Majewski, J. (2011) · Genome Research

RNA Research and SplicingGenetic Associations and Epidemiology

Cited by 111

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Guéant, J.-L., Chéry, C., Oussalah, A., Nadaf, J., Coelho, D., Josse, T., Flayac, J., Robert, A., Koscinski, I., Gastin, I., et al. (2018) · Nature Communications

Epigenetics and DNA MethylationMetabolism and Genetic Disorders

Cited by 93

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

Watt, S., Vasquez, L., Walter, K., Mann, A. L., Kundu, K., Chen, L., Sims, Y., Ecker, S., Burden, F., Farrow, S., et al. (2021) · Nature Communications

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 63

Personalized and graph genomes reveal missing signal in epigenomic data

Groza, C., Kwan, T., Soranzo, N., Pastinen, T., & Bourque, G. (2020) · Genome Biology

Genomics and Phylogenetic StudiesGenomics and Chromatin Dynamics

Cited by 57

DNA methylation within melatonin receptor 1A (MTNR1A) mediates paternally transmitted genetic variant effect on asthma plus rhinitis

Sarnowski, C., Laprise, C., Malerba, G., Moffatt, M. F., Dizier, M.-H., Morin, A., Vincent, Q. B., Rohde, K., Esparza-Gordillo, J., Margaritte-Jeannin, P., et al. (2016) · Journal of Allergy and Clinical Immunology

Asthma and respiratory diseasesGenetic Associations and Epidemiology

Cited by 35

Genomic Answers for Kids: Toward More Equitable Access to Genomic Testing for Rare Diseases in Rural Populations

Cohen, A. S. A., Berrios, C. D., Zion, T. N., Barrett, C. M., Moore, R., Boillat, E., Belden, B., Farrow, E. G., Thiffault, I., Zuccarelli, B. D., et al. (2024) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 21

Independent expansion, selection and hypervariability of the TBC1D3 gene family in humans

Guitart, X., Porubsky, D., Yoo, D., Dougherty, M. L., Dishuck, P. C., Munson, K. M., Lewis, A. P., Hoekzema, K., Knuth, J., Chang, S., et al. (2024) · Genome Research

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 14

Independent expansion, selection, and hypervariability of the TBC1D3 gene family in humans

Guitart, X., Porubsky, D., Yoo, D., Dougherty, M. L., Dishuck, P. C., Munson, K. M., Lewis, A. P., Hoekzema, K., Knuth, J., Chang, S., et al. (2024) · Genome Research

Genomic variations and chromosomal abnormalitiesChromosomal and Genetic Variations

Cited by 14

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., Cogne, B., Feldman, H. B., Horn, A. H. C., Hurst, A. C. E., et al. (2024) · Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 7