Welcome to European Journal of Human Genetics

Providing insights into human genetics, genomics, molecular, clinical and cytogenetics research   


  • Interact with the European Journal of Human Genetics like never before, and get the latest news and research delivered straight to your feed. Follow us on Twitter @ejhg_journal

  • Human Genomic Aspects of the COVID-19 Pandemic - We invite submissions (of all manuscript types) for a Special Issue on COVID-19 host genomics, to be published in 2022. Papers should be submitted no later than 1st February 2022. We seek manuscripts that increase our understanding of host genomic aspects that predispose to infection and transmission of COVID-19 and contribute to illness severity.

European 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.


Genetic Testing

Genetic Testing

The Clinical Genetics research community focuses much of its attention on improving technologies for genetic diagnosis. Of equal importance is understanding the impact of genetic testing on families and their preferences. This collection of papers highlights important recent work published in EJHG focusing on these issues.