Welcome to European Journal of Human Genetics

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


  • A systematic review assessing the existence of pneumothorax-only variants of FLCN. Implications for lifelong surveillance of renal tumours

  • genetic testing

    Don't miss the journal's latest collection on genetic testing. All papers are free to read for 6 weeks.

  • 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

  • open journals piled one on top of the other

    Read this European Journal of Human Genetics web collection highlighting the papers most read, cited and shared by readers.

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.


ASHG 2019 Annual Meeting

ASHG 2019 Annual Meeting

The American Society of Human Genetics annual meeting is upon us, 15th - 19th October 2019 and will focus on all aspects of human genetics, particularly topics that integrate multiple basic science and clinical aspects of human genetic disease. The Editor-in-Chief of EJHG in the spirit of this important event is pleased to showcase the work of many in this field as they align with the critical themes of this exciting congress.