European Journal of Medical Genetics

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;