More than 6,000 rare diseases affect between 3.5 and 5.9% of the world population. About 80% of rare diseases have a genetic component and only about 400 have therapies. Rare disease research is extremely important for finding the exact mechanisms and developing new treatments, and dissemination of new evidence is essential for this goal. The Scientific-Tools.Org staff compiled a catalogue of journals focused on rare (orphan) diseases and medical genetics. We put this directory of journals with details on the open access option and impact factor to inform colleagues and facilitate knowledge sharing.
Rare (orphan) diseases journals
ξ Orphanet Journal of Rare Diseases – open access BioMedCentral journal with impact factor 5.07. The official journal of Orpha.Net, the European portal for rare diseases and orphan drugs, that also provides a plenty of useful services and information resources (such as encyclopedia of rare disease in several languages, reference manual of orphan drugs, list of European centers for diagnostics and treatment of rare diseases, directory of existing diagnostic tests, registry for clinical trials, directory of patient organizations all over the world, etc).
ξ Intractable Rare Diseases Research – open access journal with emphasis on rare diseases in Asia.
ξ Rare Diseases – open access journal.
ξ The Journal of Rare Disorders – open access journal.
ξ Journal of Inherited Metabolic Disease – established in 1978, some articles have free full-text access.
ξ CasesDatabase – open access collection of more than 25,000 cases from 252 journals, some cases description represent rare diseases.
ξ Special supplement to the Journal of General Internal Medicine dedicated to research methods for evaluating patient health outcomes in rare diseases.
ξ Journal of Rare Cardiovascular Diseases – was announced for quarterly publication, but the latest article was published in 2020.
ξ Therapeutic Advances in Rare Disease – open access journal, currently indexed in PubMed Central and Scopus.
Medical genetics journals
ξ Gene Reviews – Comprehensive open access compendium for genetic diseases (including rare diseases). Currently has 600+ chapters dedicated to separate genetic diseases, all of them are regularly updated by leading scientists. Each chapter contains extensive information on the clinical appearance, diagnostic methods, current treatment options, and genetic counselling.
ξ American Journal of Human Genetics – official journal of the American Society of Human Genetics, impact factor 10.6. All articles get open access status within 6 months after publication.
ξ BMC Medical Genomics – BioMedCentral-family journal with open access, impact factor 3.69.
ξ Human Genomics – BioMedCentral-family journal with open access, impact factor 3.36.
ξ BMC Genetics – BioMedCentral-family journal with open access, impact factor 2.48.
ξ BMC Medical Genetics – BioMedCentral-family journal with open access, impact factor 2.33.
ξ Genome Medicine – BioMedCentral-family journal with open access
ξ PLoS genetics – Public Library Of Science-family journal with open access.
ξ Frontiers in Genetics – open access journal, many articles dedicated to medical genetics.
ξ Physiological genomics – official journal of the American Physiological Society, impact factor 2.735. All articles get open access status in 1 year after publication.
ξ Indian journal of human genetics – open access journal, html version of articles is freely available for all, while pdf version could be obtained only by journal’s subscribers or visitors from India.
ξ American Journal of Medical Genetics: Part A – impact factor 2.39, a substantial proportion of articles are in open access.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics – impact factor 3.70, a substantial proportion of articles are in open access.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics – impact factor 4.05, a substantial proportion of articles are in open access.
ξ Annals of human genetics – all articles put in open access 2 years after publication, while some papers published in open access immediately, impact factor 2.565.
ξ Human molecular genetics – some articles are published under open access option, impact factor 7.636.
ξ Journal of Medical Genetics – some articles are in open access, impact factor 6.365.
ξ Genetics in Medicine – some articles are in open access, impact factor 4.762.
ξ Pharmacogenetics & Genomics – some articles are in open access, impact factor 3.485.
ξ Clinical Genetics – some articles are in open access, impact factor 3.128.
ξ Human Genetics – many articles are in open access, impact factor 5.069.
ξ Journal of Human Genetics – some articles are in open access, impact factor 2.496.
ξ Nature genetics and Nature Reviews. Genetics – both are dedicated to genetics in general, there are some articles presenting issues of medical genetics (for example, the collection of articles “Disease mechanisms”).
ξ Somatic Cell and Molecular Genetics – some articles are in open access.
ξ Journal of Genetics and Genomics – impact factor 5.723.
ξ Annual Review Genetics – published annually, contains reviews on a broad spectrum of topics, available only to subscribers.
ξ European journal of medical genetics – impact factor 2.178
ξ Forensic Science International: Genetics – impact factor 3.08
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