Human Molecular Genetics is committed to the communication of high quality studies related to human molecular genetic disease mechanisms from the analysis of mutated genes and disease susceptibility through to therapeutics. We cover a broad range of topics which include:

the molecular basis of human genetic disease
developmental genetics
cancer genetics
neurogenetics
chromosome and genome structure and function
therapy of genetic disease
stem cells in human genetic disease and therapy, including the application of iPS cells
mouse and other models of human diseases
genome-wide association studies
functional genomics
computational genomics
In addition, the journal also publishes research on other model systems for the analysis of genes, especially when there is an obvious relevance to human genetics.

Key features of the journal include:

Articles - comprehensive reports and definitive research findings of interest to a broad audience of human molecular geneticists. We encourage inclusion of full experimental details, with as many display items (figures and tables) as required to tell the complete story.
Review Issue - Human Molecular Genetics publishes 1-2 a special review issues each year, typically by invitation.