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Rare diseases and medical genetics journals

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 [1] — open access BioMedCentral journal with impact factor 5.07. The official journal of  Orpha.Net [2], 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 [3] in several languages,  reference manual of orphan drugs [4], list of European centers for diagnostics and treatment of rare diseases [4], directory of existing diagnostic tests [4], registry for clinical trials [4], directory of patient organizations [4] all over the world, etc).

ξ Intractable Rare Diseases Research [5] — open access journal with emphasis on rare diseases in Asia.

ξ Rare Diseases [6] — open access journal established in 2013.

ξ The Journal of Rare Disorders [7] — open access journal established in 2013.

ξ Expert Opinion on Orphan Drugs [8] — established in 2013. Free full-text access provided only to the first issue [9], while other issues available only to subscribers.

ξ Journal of Inherited Metabolic Disease [10] — established in 1978, some articles have free full-text access.

ξ CasesDatabase [11] — 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 [12] dedicated to research methods for evaluating patient health outcomes in rare diseases — announced for publishing in 2014.

ξ Journal of Rare Cardiovascular Diseases [13] — 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 [14] — announced in 2013 as open access journal, currently calls for articles submission, and has no published issues.

Medical genetics journals

ξ Gene Reviews [15] – 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 [16] — 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 [17] — BioMedCentral-family journal with open access, impact factor 3.69.

ξ Human Genomics [18] — BioMedCentral-family journal with open access, impact factor 3.36.

ξ BMC Genetics [19] — BioMedCentral-family journal with open access, impact factor 2.48.

ξ BMC Medical Genetics [20] — BioMedCentral-family journal with open access, impact factor 2.33.

ξ Genome Medicine [21] — BioMedCentral-family journal with open access

ξ PLoS genetics [22] — Public Library Of Science-family journal with open access.

ξ Frontiers in Genetics [23] — open access journal, many articles dedicated to medical genetics.

ξ Physiological genomics [24] — 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 [25] — 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 [26] — impact factor 2.39, a substantial proportion of articles are in open access.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [27] — impact factor 3.70, a substantial proportion of articles are in open access.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics [28] — impact factor 4.05, a substantial proportion of articles are in open access.

ξ Annals of human genetics [29] — 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 [30] — some articles are published under open access option, impact factor 7.636.

ξ Journal of Medical Genetics [31] — some articles are in open access, impact factor 6.365.

ξ Genetics in Medicine [32] — some articles are in open access, impact factor 4.762.

ξ Pharmacogenetics & Genomics [33] — some articles are in open access, impact factor 3.485.

ξ Clinical Genetics [34] — some articles are in open access, impact factor 3.128.

ξ Human Genetics [35] — few articles are in open access, impact factor 5.069.

ξ Journal of Human Genetics [36] some articles are in open access, impact factor 2.496.

ξ Nature genetics [37] and Nature Reviews. Genetics [38] — are dedicated to genetics in general, there are some articles presenting issues of medical genetics (for example,  the collection of articles «Disease mechanisms» [39]).

ξ Somatic Cell and Molecular Genetics [40] some articles are in open access.

ξ Journal of Genetics and Genomics [41] — open access provided only to a single issue [42].

ξ Annual Review Genetics [43] — published annually, contains reviwes on broad spectrum of topics, available only to subscribers.

ξ European journal of medical genetics [44] — impact factor 2.178

ξ Forensic Science International: Genetics [45] — impact factor 3.08

ξ Russian Journal of Genetics [46] — English version of Russian journal «Genetika».