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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


  • Functional restoration of mouse Nf1 nonsense alleles in differentiated cultured neurons

    Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1

    …and more

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

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.