Human Molecular Genetics is a semimonthly peer-reviewed scientific journal published by Oxford University Press. It covers all topics related to human molecular genetics. In addition, two "special review" issues are published each year. The editor-in-chief is Charis Eng (Case Western Reserve University). The journal was established in 1992.

Abstracting and indexing

The journal is abstracted and indexed in: • Abstracts in Anthropology • Animal Breeding Abstracts • Biological Abstracts • Biotechnology Citation Index • BIOSIS Previews • CAB Abstracts • Current Contents/Life Sciences • EMBASE • Genetics Abstracts • Global Health • ProQuest databases • Science Citation Index Expanded • Tropical Diseases Bulletin • Weed Abstracts According to the Journal Citation Reports, the journal has a 2020 impact factor of 6.150.