European Journal of Medical Genetics

Aims & Scope

The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.

Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.

View Aims & Scope

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Metrics & Ranking

Impact Factor

Year	Value
2025	1.7
2024	1.60

Journal Rank

Year	Value
2024	7433

Journal Citation Indicator

Year	Value
2024	996

SJR (SCImago Journal Rank)

Year	Value
2024	0.748

Quartile

Year	Value
2024	Q2

h-index

Year	Value
2024	67

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Abstracting & Indexing

Journal is indexed in leading academic databases, ensuring global visibility and accessibility of our peer-reviewed research.

• Scopus
• Google Scholar
• Web of Science
• Medline
• Embase

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Subjects & Keywords

Journal’s research areas, covering key disciplines and specialized sub-topics in Biochemistry, Genetics and Molecular Biology and Medicine, designed to support cutting-edge academic discovery.

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Most Cited Articles

The Most Cited Articles section features the journal's most impactful research, based on citation counts. These articles have been referenced frequently by other researchers, indicating their significant contribution to their respective fields.

• Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: Epidemiology, metabolism and the associated diseases

  Citation: 367

  Authors: Siaw-Cheok, Esha Das

• Infantile hydrocephalus: A review of epidemiology, classification and causes

  Citation: 315

  Authors: Hannah M., William B.

• Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries

  Citation: 234

  Authors: A., A., M., S., C.

• Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

  Citation: 233

  Authors: Judith G.

• The genetic architecture of microphthalmia, anophthalmia and coloboma

  Citation: 221

  Authors: Kathleen A., David R.

• Congenital disorders of glycosylation (CDG): Quo vadis?

  Citation: 211

  Authors: Romain, Pascale, François, Uwe, Dirk J., Eva, Belén, Nathalie, Christian, Emile, Gert, Jaak

• SHP2 sails from physiology to pathology

  Citation: 199

  Authors: Mylène, Audrey, Philippe, Thomas, Armelle

• Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

  Citation: 198

  Authors: E.K., A.C.J., J.H.M., A., D.E., B.-M., J., P., L.A., B., B., B., A., H., D.J., D.L., A.J., R., B., K.T., M.C.J., R., H.M., M.H., C.A.L.

• Associated congenital anomalies among cases with Down syndrome

  Citation: 190

  Authors: Claude, Beatrice, Yves, Marie-Paule

• Microduplication 22q11.2: A new chromosomal syndrome

  Citation: 179

  Authors: Marie-France

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