Clinical Genetics

Aims & Scope

Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist.

The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.

Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease

View Aims & Scope

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Metrics & Ranking

Impact Factor

Year	Value
2025	2.3
2024	2.90

Journal Rank

Year	Value
2024	4178

Journal Citation Indicator

Year	Value
2024	1461

SJR (SCImago Journal Rank)

Year	Value
2024	1.093

Quartile

Year	Value
2024	Q2

h-index

Year	Value
2024	121

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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.

• Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease

  Citation: 705

  Authors: H.

• A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length

  Citation: 665

  Authors: DR, RR, D, JS, MR

• Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

  Citation: 644

  Authors: HT, PM, SJ, CL, JF, CR

• The molecular regulation of myogenesis

  Citation: 573

  Authors: Luc A, Michael A

• Gene/environment causes of cleft lip and/or palate

  Citation: 565

  Authors: JC

• Niemann–Pick disease type C

  Citation: 502

  Authors: MT, G

• Genes and mutations causing retinitis pigmentosa

  Citation: 484

  Authors: S P, L S, S J

• The Cowden syndrome: a clinical and genetic study in 21 patients

  Citation: 434

  Authors: Th. M., J. P. W. van der, F., L. P. de, G. G.de, J. J. P., A. W.

• A cytogenetic survey of 14,069 newborn infants

  Citation: 429

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

• Epigenetic modifications in cancer

  Citation: 420

  Authors: R, S

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