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.

Editorial comments
Review
Experimental research
Clinical research
Clinical Reports
Exome Reports
Genetic forum
Letter to the Editor

Editor in Chief
Alain Verloes, M.D., Ph.D.
Robert-Debré Hospital Functional Unit of Clinical Genetics, 48 Boulevard Sérurier, 75019, Paris, France, Fax: +33 1 40 03 22 77 Phone (+331 / 01)40035306ou3618 Email Alain Verloes, M.D., Ph.D.
Associate Editors
Jean-Michel Dupont
Paris, France
Gabriele Gillessen-Kaesbach
Lübeck, Germany
Kenjiro Kosaki
Shinjuku-Ku, Japan
Feliciano Ramos Fuentes
Zaragoza, Spain
Anne Slavotinek
San Francisco, California, United States
Mohnish Suri
Nottingham, United Kingdom
George A. Tanteles
Nicosia, Cyprus
Christian Thiel
Erlangen, Germany
Orsetta Zuffardi
Pavia, Italy
Christiane Zweier
Erlangen, Germany
Editorial Board
Fowzan Alkuraya
Riyadh, Saudi Arabia
Emilia Bijlsma
Leiden, Netherlands
Jill Clayton-Smith
Manchester, United Kingdom
Miguel Del Campo Casanelles
San Diego, California, United States
Koenraad Devriendt
Heverlee, Belgium
John Graham
Los Angeles, California, United States
Raoul Hennekam
Amsterdam, Netherlands
Hulya Kayserili
?stanbul, Turkey
Tjitske Kleefstra
Nijmegen, Netherlands
Eva Klopocki
Wurzburg, Germany
Didier Lacombe
Bordeaux, France
Thomas Liehr
Jena, Germany
André Mégarbané
Beirut, Lebanon
Geert Mortier
Edegem, Belgium
Maximilian Muenke
Bethesda, Maryland, United States
Annick Raas-Rotschild
Yerushalayim, Israel
Anita Rauch
Schwerzenbach, Switzerland
Conny van Ravenswaaij-Arts
Groningen, Netherlands
Cristina Rusu
Ia?i, Romania
Marco Tartaglia
Roma, Italy
Hilde Van Esch
Heverlee, Belgium
Dagmar Wieczorek
Essen, Germany
Bernd Wollnik
Koln, Germany