World Journal of Medical Genetics is an international, peer-reviewed, open-access academic journal dedicated to publishing original, high-quality research findings in the field of medical genetics, including clinical, translational, and basic studies, as well as research involving artificial intelligence. The journal focuses on, but is not limited to, the following areas: Cancer genetics, chromosomal rearrangements, clinical-molecular genetics and cytogenetics, cognitive and behavioural genetics, copy-number variation, developmental defects, developmental genetics, epigenetics, functional and epigenetics, functional genomics, gene therapy, genes and the pathology of human disease, genetic epidemiology, genome evolution, genome-wide studies, genotype-phenotype correlations, new disease loci, pharmacological genomics, phenotypes, quantitative traits, regulation of gene expression, screening, somatic mosaicism, and statistical genetics. Types of articles published by the journal include clinical study, basic study, case report, editorial, review, minireview, systematic review, meta-analysis, guidelines, and correspondence. All submissions undergo a rigorous and transparent peer-review process by at least two independent reviewers. Manuscripts are evaluated based on scientific rigor, originality, clinical relevance, and reproducibility, with particular attention to methodological robustness and data integrity. Constructive and timely feedback is provided to ensure the highest standards of scholarly communication. The journal adheres to the highest standards of publication ethics and editorial integrity, in accordance with the guidelines of the Committee on Publication Ethics, the International Committee of Medical Journal Editors, and the World Association of Medical Editors. To advance scientific discovery, promote evidence-based clinical practice, and foster innovation in All submissions undergo a rigorous and transparent peer-review process by at least two independent reviewers. Manuscripts are evaluated based on scientific rigor, originality, clinical relevance, and reproducibility, with particular attention to methodological robustness and data integrity. Constructive and timely feedback is provided to ensure the highest standards of scholarly communication. The journal adheres to the highest standards of publication ethics and editorial integrity, in accordance with the guidelines of the Committee on Publication Ethics, the International Committee of Medical Journal Editors, and the World Association of Medical Editors. To advance scientific discovery, promote evidence-based clinical practice, and foster innovation in medical genetics, ultimately improving global health outcomes. We invite researchers, clinicians, and multidisciplinary experts worldwide to submit high-quality manuscripts and contribute to shaping the future of, ultimately improving global health outcomes. We invite researchers, clinicians, and multidisciplinary experts worldwide to submit high-quality manuscripts and contribute to shaping the future of medical genetic science. Submit an Article >>