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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


  • Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing

    Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders

    A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities

  • 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

Journal of Human Genetics is a Transformative Journal; authors can publish using the traditional publishing route OR via immediate gold Open Access.

Our Open Access option complies with funder and institutional requirements.