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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


  • Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility

    Clinical and molecular characteristics of Korean patients with Kabuki syndrome

    The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients

    …and more

  • 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