The European Journal of Medical Genetics (EJMG) publishes articles on various aspects of human and medical genetics, the genetics of experimental models and developmental anomalies.

The journal publishes topics including:
Clinical genetics and genomics, including neurodevelopmental disorders (NDD), single or multiple malformations syndromes, and dysmorphology;
Biology and pathophysiology of genetic and genomic diseases: biology of cell, pathways and systems, epigenetics and gene regulation, biology and pathophysiology of specific genes and non-coding DNA, and teratogenic factors;
Rare inherited cancer predisposition syndromes;
Fetal medicine, including prenatal diagnosis, prenatal screening, fetal therapies and teratology, and newborn screening;
Diagnostic methods including sequencing studies (gene level), transcriptome studies, methylome and other Omics technologies, variant interpretation and functional validation, and bioinformatics and biostatistical methods in genetics;
Personalized medicine and therapies, including gene therapy and gene editing, non-genetic treatment of genetic disease, pharmacogenetics and genomics, theragnostic and clinical trials;
Formal genetics: Mendelian and non-Mendelian inheritance;
Genetics and society: ethical aspects in genetics, impact of genomic medicine on public and patients, legal and reglementary aspects in genetics and clinical research, psychosocial aspects, rare diseases and genetics;
Teaching and training in genetics;
Genetic counseling;
Please note: tumor genetics and studies focusing on multifactorial diseases are not in the scope of the Journal.