S. Sakaue

Most-cited papers

1. A cross-population atlas of genetic associations for 220 human phenotypes

   S. Sakaue, M. Kanai, Yosuke Tanigawa, J. Karjalainen +42 more

   2021Nature Genetics1,992 citations Open access

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2. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

   R. Malik, G. Chauhan, M. Traylor, M. Sargurupremraj +273 more

   2018Nature Genetics1,441 citations Open access

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3. The power of genetic diversity in genome-wide association studies of lipids

   Sarah E. Graham, S. Clarke, Kuan-Han H. Wu, S. Kanoni +496 more

   2021Nature826 citations Open access

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4. The Polygenic and Monogenic Basis of Blood Traits and Diseases

   D. Vuckovic, Erik L. Bao, P. Akbari, C. Lareau +108 more

   2020Cell627 citations Open access

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5. Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

   Ming-Huei Chen, L. Raffield, A. Mousas, S. Sakaue +106 more

   2020bioRxiv589 citations Open access

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6. Large scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases

   K. Ishigaki, M. Akiyama, M. Kanai, A. Takahashi +85 more

   2020Nature Genetics462 citations Open access

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7. Deconstruction of rheumatoid arthritis synovium defines inflammatory subtypes

   Fan Zhang, A. Jonsson, A. Nathan, N. Millard +85 more

   2023Nature396 citations Open access

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8. Genome-wide analysis of dental caries and periodontitis combining clinical and self-reported data

   D. Shungin, S. Haworth, K. Divaris, C. Agler +34 more

   2019Nature Communications285 citations Open access

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9. Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis

   K. Ishigaki, S. Sakaue, C. Terao, Yang Luo +86 more

   2022Nature Genetics281 citations Open access

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10. Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

    Martin Jinye Zhang, Kangcheng Hou, K. Dey, S. Sakaue +11 more

    2021bioRxiv261 citations Open access

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11. Trans-ancestry genome-wide study of depression identifies 697 associations implicating cell types and pharmacotherapies

    M. Adams, F. Streit, Xiangrui Meng, S. Awasthi +374 more

    2025Cell247 citations Open access

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12. Cerebral small vessel disease genomics and its implications across the lifespan

    M. Sargurupremraj, Hideaki Suzuki, X. Jian, C. Sarnowski +112 more

    2020Nature Communications183 citations Open access

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13. Characterizing rare and low-frequency height-associated variants in the Japanese population

    M. Akiyama, K. Ishigaki, S. Sakaue, Y. Momozawa +24 more

    2019Nature Communications172 citations Open access

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14. Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference

    Xiangrui Meng, Georgina Navoly, O. Giannakopoulou, D. Levey +74 more

    2024Nature Genetics167 citations Open access

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15. Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese

    Y. Okada, Y. Momozawa, S. Sakaue, M. Kanai +12 more

    2018Nature Communications165 citations Open access

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16. A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

    Yang Luo, M. Kanai, Wanson Choi, Xin-Yi Li +30 more

    2021Nature Genetics154 citations Open access

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17. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

    R. Malik, G. Chauhan, M. Traylor, M. Sargurupremraj +167 more

    2018142 citations

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18. Granzyme K activates the entire complement cascade

    Carlos A Donado, Erin Theisen, Fan Zhang, A. Nathan +89 more

    2025Nature115 citations Open access

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19. Genetic and phenotypic landscape of the major histocompatibilty complex region in the Japanese population

    Jun Hirata, K. Hosomichi, S. Sakaue, M. Kanai +15 more

    2019Nature Genetics113 citations

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20. Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan

    S. Sakaue, M. Kanai, J. Karjalainen, M. Akiyama +10 more

    2020Nature Medicine108 citations Open access

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21. Deciphering the impact of genomic variation on function

    Jesse M. Heather A. Harinder Lea M. Gary C. Hannah Nidhi Engreitz Lawson Singh Starita Hon Carter Sahni Red, Jesse M. Heather A. Harinder Lea M. Gary C. Hannah Nidhi Engreitz Lawson Singh Starita Hon Carter Sahni Red, Jesse M. Engreitz, Heather A. Lawson +496 more

    2024Nature94 citations Open access

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22. Insights from complex trait fine-mapping across diverse populations

    M. Kanai, J. Ulirsch, J. Karjalainen, M. Kurki +23 more

    2021medRxiv94 citations Open access

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23. Dimensionality reduction reveals fine-scale structure in the Japanese population with consequences for polygenic risk prediction

    S. Sakaue, Jun Hirata, M. Kanai, Ken Suzuki +16 more

    2020Nature Communications90 citations Open access

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24. Transethnic meta-analysis of genome-wide association studies identifies three new loci and characterizes population-specific differences for coronary artery disease

    Hiroshi Matsunaga, K. Ito, M. Akiyama, A. Takahashi +32 more

    2019bioRxiv81 citations Open access

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25. Clonal associations between lymphocyte subsets and functional states in rheumatoid arthritis synovium

    G. Dunlap, Aaron Wagner, N. Meednu, Ruo-Qiao H. Wang +84 more

    2024Nature Communications73 citations Open access

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26. GREP: genome for REPositioning drugs

    S. Sakaue, Y. Okada

    2019Bioinform.64 citations Open access

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27. Mendelian randomization of genetically independent aging phenotypes identifies LPA and VCAM1 as biological targets for human aging

    P. Timmers, E. Tiys, S. Sakaue, M. Akiyama +12 more

    2022Nature Aging52 citations Open access

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28. Tissue-specific enhancer–gene maps from multimodal single-cell data identify causal disease alleles

    S. Sakaue, Kathryn Weinand, Shakson Isaac, K. Dey +86 more

    2022Nature Genetics52 citations Open access

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29. Mapping the dynamic genetic regulatory architecture of HLA genes at single-cell resolution

    Joyce B. Kang, Amber Z. Shen, Saisriram Gurajala, A. Nathan +101 more

    2023Nature Genetics43 citations Open access

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30. Whole genome sequence analyses of eGFR in 23,732 people representing multiple ancestries in the NHLBI trans-omics for precision medicine (TOPMed) consortium

    B. Lin, Kelsey E. Grinde, J. Brody, C. Breeze +70 more

    2021EBioMedicine43 citations Open access

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31. Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

    R. Malik, G. Chauhan, M. Traylor, M. Sargurupremraj +273 more

    2019Nature Genetics40 citations Open access

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32. Tutorial: a statistical genetics guide to identifying HLA alleles driving complex disease

    S. Sakaue, Saisriram Gurajala, Michelle Curtis, Yang Luo +15 more

    2023Nature Protocols39 citations Open access

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33. Integration of genetics and miRNA–target gene network identified disease biology implicated in tissue specificity

    S. Sakaue, Jun Hirata, Y. Maeda, Eiryo Kawakami +31 more

    2018Nucleic Acids Research39 citations Open access

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34. Genetic determinants of risk in autoimmune pulmonary alveolar proteinosis

    S. Sakaue, Etsuro Yamaguchi, Y. Inoue, Meiko Takahashi +53 more

    2021Nature Communications37 citations Open access

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35. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids.

    S. Ramdas, Jonathan Judd, Sarah E. Graham, S. Kanoni +496 more

    2022American Journal of Human Genetics36 citations Open access

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36. Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population

    Kenichi Yamamoto, S. Sakaue, K. Matsuda, Y. Murakami +4 more

    2020Communications Biology35 citations Open access

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37. Cellular deconstruction of inflamed synovium defines diverse inflammatory phenotypes in rheumatoid arthritis

    Fan Zhang, A. Jonsson, A. Nathan, Kevin Wei +80 more

    2022bioRxiv34 citations Open access

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38. Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

    Qing-Bo S. Wang, Takanori Hasegawa, H. Namkoong, R. Saiki +27 more

    2024Nature Genetics31 citations Open access

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39. Next-generation sequencing identifies contribution of both class I and II HLA genes on susceptibility of multiple sclerosis in Japanese

    K. Ogawa, Tatsusada Okuno, K. Hosomichi, A. Hosokawa +10 more

    2019Journal of Neuroinflammation31 citations Open access

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40. Tocilizumab-induced leucocytoclastic vasculitis in a patient with rheumatoid arthritis.

    S. Sakaue, S. Sumitomo, K. Kubo, K. Fujio +1 more

    2014Rheumatology30 citations

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41. Dynamic regulatory elements in single-cell multimodal data implicate key immune cell states enriched for autoimmune disease heritability

    Anika Gupta, Kathryn Weinand, A. Nathan, S. Sakaue +7 more

    2023Nature Genetics26 citations Open access

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42. Genome-Wide Natural Selection Signatures Are Linked to Genetic Risk of Modern Phenotypes in the Japanese Population

    Yoshiaki Yasumizu, S. Sakaue, Takahiro Konuma, Ken Suzuki +6 more

    2020Molecular biology and evolution26 citations Open access

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43. The chromatin landscape of pathogenic transcriptional cell states in rheumatoid arthritis

    Kathryn Weinand, S. Sakaue, A. Nathan, A. Jonsson +82 more

    2024Nature Communications24 citations Open access

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44. Adipocyte associated glucocorticoid signaling regulates normal fibroblast function which is lost in inflammatory arthritis

    Heather J Faust, T. Cheng, I. Korsunsky, Gerald F. M. Watts +94 more

    2024Nature Communications24 citations Open access

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45. Blood DNA virome associates with autoimmune diseases and COVID-19

    N. Sasa, Shohei Kojima, Rie Koide, Takanori Hasegawa +128 more

    2025Nature Genetics23 citations Open access

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46. The Chromatin Landscape of Pathogenic Transcriptional Cell States in Rheumatoid Arthritis

    Kathryn Weinand, S. Sakaue, A. Nathan, A. Jonsson +9 more

    2023bioRxiv23 citations Open access

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47. A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

    L. Yengo, S. Vedantam, E. Marouli, J. Sidorenko +58 more

    202223 citations Open access

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48. A global atlas of genetic associations of 220 deep phenotypes

    S. Sakaue, M. Kanai, Yosuke Tanigawa, J. Karjalainen +43 more

    2020medRxiv22 citations Open access

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49. Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population

    S. Sakaue, M. Akiyama, M. Hirata, K. Matsuda +4 more

    2019European Journal of Human Genetics18 citations Open access

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50. Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study

    Shogo Dofuku, K. Sonehara, S. Miyawaki, S. Sakaue +22 more

    2022Translational Stroke Research16 citations

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