European Journal of Medical Genetics

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.

EJMG is formerly known as Annales de Genetique.