Human Genetics

Aims & Scope

Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics.

The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics.

Articles reporting animal models relevant to human biology or disease are also welcome.

Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.

Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted.

The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.

View Aims & Scope

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Metrics & Ranking

Impact Factor

Year	Value
2025	3.6
2024	3.80

Journal Rank

Year	Value
2024	2143

Journal Citation Indicator

Year	Value
2024	1633

SJR (SCImago Journal Rank)

Year	Value
2024	1.597

Quartile

Year	Value
2024	Q1

h-index

Year	Value
2024	155

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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.

• The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

  Citation: 1161

  Authors: Peter D., Matthew, Edward V., Katy, Matthew, Sally, Michelle, Andrew D., David N.

• The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

  Citation: 1119

  Authors: Peter D., Matthew, Edward V., Katy, Andrew D., David N.

• The hnRNP family: insights into their role in health and disease

  Citation: 876

  Authors: Thomas, Delphine, Vincent

• A functional polymorphism in the monoamine oxidase A gene promoter

  Citation: 846

  Authors: S. Z., Stella, D.

• The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

  Citation: 837

  Authors: Michael, Jochen, DavidN.

• Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

  Citation: 829

  Authors: P., T., J., L., D. C.

• Candidate gene studies of ADHD: a meta-analytic review

  Citation: 813

  Authors: Ian R., Courtney, Irwin D.

• Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets

  Citation: 772

  Authors: Miao-Xin, Juilian M. Y., Stacey S., Pak C.

• Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in �rhus, Denmark

  Citation: 753

  Authors: Johannes, Mogens

• Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm

  Citation: 681

  Authors: L., Orsetta

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