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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


  • Genetics of autism spectrum disorders and future direction

    Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia

  • 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.