There are several journals focused on rare (orphan) diseases and medical genetics. Many of them provide free full-text access to all or selected articles. Below is a directory of journals with details on the open access option and impact factor (for the year 2012).

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 established in 2013.

ξ The Journal of Rare Disorders – open access journal established in 2013.

ξ Expert Opinion on Orphan Drugs – established in 2013. Free full-text access provided only to the first issue, while other issues available only to subscribers.

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 of the cases 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 – announced for publishing in 2014.

ξ Journal of Rare Cardiovascular Diseases – was announced for quarterly publication, but only a table of contents for the first issue is available on the journal’s web-site, without possibility to access full-text articles.

ξ Orphan Diseases and Rare Drugs – announced in 2013 as open access journal, currently calls for articles submission, and has no published issues.

Medical genetics journals

ξ Gene Reviews – comprehensive open access compendium for genetic diseases (including rare diseases). Currently 592 chapters each dedicated to a separate genetic disease are available, all of them are regularly updated by leading scientists. Each chapter contains extensive information on clinical appearance, diagnostic methods, current treatment options and genetic counseling.

ξ American Journal of Human Genetics – official journal of the American Society of Human Genetics, impact factor 10.603. All articles get an 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, some published initially as open access articles.

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 – few 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 – 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 – open access provided only to a single issue.

ξ Annual Review Genetics – published annually, contains reviwes on 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

ξ Russian Journal of Genetics – English version of Russian journal “Genetika”.

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