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Welcome to the Journal of Human Genetics

An international journal publishing articles on human genetics, including medical genetics and human genome analysis


  • Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes

    A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoforms

    …and more

  • Special Issue Editors: Johji Inazawa, Yoshio Miki, and Yusuke Nakamura

  • Find previous Special Features collections of review articles here. Topics include: Future Perspective of Human Genomics Analysis, Long-read Sequencing in Human Genetics, Advances in Inborn Errors of Metabolism, Genome Editing, and more