Journal of Medical Genetics

Aims & Scope

Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments.

Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.

View Aims & Scope

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Metrics & Ranking

Impact Factor

Year	Value
2025	3.7
2024	3.50

SJR (SCImago Journal Rank)

Year	Value
2024	1.620

Quartile

Year	Value
2024	Q1

h-index

Year	Value
2024	194

Journal Rank

Year	Value
2024	2090

Journal Citation Indicator

Year	Value
2024	1800

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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

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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.

• Genetic heterogeneity in osteogenesis imperfecta.

  Citation: 1699

  Authors: D O, A, D M

• The revised Ghent nosology for the Marfan syndrome: Table 1

  Citation: 1683

  Authors: Bart L, Harry C, Alan C, Bert L, Julie, Richard B, Yvonne, Guillaume, Laurence, Dianna M, Reed E, Paul D, Paul, Anne M

• Malignant peripheral nerve sheath tumours in neurofibromatosis 1

  Citation: 1041

  Authors: D G R, M E, J, S, E, A

• ceRNA in cancer: possible functions and clinical implications

  Citation: 1026

  Authors: Xiaolong, Da-Hong, Nan, Jun-Hua, Xiang, Wang

• Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

  Citation: 917

  Authors: A K, J A, D I, N, A, H, S, H, B, M, A, F L, J, E, C, F A, B, G, J A, J, A J, R M, L, K, P J

• International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

  Citation: 825

  Authors: M E, V A, G, U W, J, D D, J, D H, E, M S, V, A, J R, A E, R H, S J, J, J J, A P, J F, D, H, M E M, R E, D A, C, K, P, M C, C J J, R I, L H, R

• Hirschsprung disease, associated syndromes and genetics: a review

  Citation: 750

  Authors: J, E, M, F, G, S, A, S, X, P, A S, G, L, M, A, C, K, K K-Y, S, A, P K-H, I, R M W, R

• Guidelines for the diagnosis and management of individuals with neurofibromatosis 1

  Citation: 749

  Authors: Rosalie E, Susan M, Nick, Celia, Harry, D Gareth, Meena, Richard, Michael, Christine, Amanda

• New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

  Citation: 705

  Authors: P L, N, A S, D, F A

• Mutations in <i>SCN9A</i>, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

  Citation: 660

  Authors: Y, Y, S, Z, H, L, J, D, B, Z, G, J, B, X, Y

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