Molecular Syndromology

Aims & Scope

Molecular Syndromology publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights.

Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings.

Research on model systems is also welcome, especially when it is obviously relevant to human genetics.

With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions.

The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes.

With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.

View Aims & Scope

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Metrics & Ranking

SJR (SCImago Journal Rank)

Year	Value
2024	0.437

Quartile

Year	Value
2024	Q3

h-index

Year	Value
2024	44

Impact Factor

Year	Value
2024	0.90

Journal Rank

Year	Value
2024	12941

Journal Citation Indicator

Year	Value
2024	237

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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
• 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.

• The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

  Citation: 347

  Authors: K., H.E.

• Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition

  Citation: 223

  Authors: Christopher, Jennifer A., Nathan A.

• Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment

  Citation: 194

  Authors: Dmitriy M., Stephan G., Richard E.

• Noonan Syndrome: Clinical Aspects and Molecular Pathogenesis

  Citation: 186

  Authors: M., G., B.D.

• Genetic Basis of Brain Malformations

  Citation: 182

  Authors: Elena, Valerio, William B., Renzo

• Osteogenesis Imperfecta: A Review with Clinical Examples

  Citation: 149

  Authors: F.S., J.M., A., A., P.G.J., R.R., G.

• Variable Somatic <b><i>TIE2</i></b> Mutations in Half of Sporadic Venous Malformations

  Citation: 146

  Authors: J., N., M., L.M., M.

• Update on Kleefstra Syndrome

  Citation: 134

  Authors: M.H., A.T., W.M., W.M., H., N., E.M., U., C.M.A., B., A.M.M., G., T., K., M., A., W., J., K., C., P.T.J.M., M., P.E., H.G., S., T.

• Coenzyme Q<sub>10</sub> Therapy

  Citation: 123

  Authors: Juan, Mario D., Manuel, Alejandro, Mario, Ana, Manuel, Carmen, Marina, David, José A.

• Bardet-Biedl Syndrome

  Citation: 114

  Authors: Evgeny N., Evgeny N.

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