Welcome to European Journal of Human Genetics

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


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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.