• The need for a next-generation public health response to rare diseases.
  R Valdez et al, CDC Blog Post, February 2017
• Rare Diseases, Genomics and Public Health: An Expanding Intersection
  CDC Blog Post

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• The need for a next-generation public health response to rare diseases.
  Valdez Rodolfo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Oct
• Public Health and Rare Diseases: Oxymoron No More
  Valdez R, et al. Chronic Diseases Volume 13 January 14, 2016
• A statistical approach for rare-variant association testing in affected sibships.
  Epstein Michael P et al. Am. J. Hum. Genet. 2015 Apr 2. 96(4) 543-54
• Utilizing population controls in rare-variant case-parent association tests.
  Jiang Yu et al. Am. J. Hum. Genet. 2014 Jun 5. 94(6) 845-53
• The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia.
  Grosse Scott D et al. Genet. Med. 2014 Jan 16(1) 33-9

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• Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.
  Published 2017
• Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
  Published 2015
• Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
  Published 2015
• Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
  Published 2014 ( International Union of Immunological Societies Expert Committee for Primary Immunodeficiency)
• A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
  Published 2014

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• Familial vs. sporadic sarcoidosis: BTNL2 polymorphisms, clinical presentations, and outcomes in a French cohort.
  Orphanet journal of rare diseases 2016 Dec 11 (1): 165.
  Pacheco Yves, Calender Alain, Israël-Biet Dominique, Roy Pascal, Lebecque Serge, Cottin Vincent, Bouvry Diane, Nunes Hilario, Sève Pascal, Pérard Laurent, Devouassoux Gilles, Freymond Nathalie, Khouatra Chahira, Wallaert Benoît, Lamy Raphaelle, Elsensohn Mad-Hélénie, Bardel Claire, Valeyre Dominique,
• Genetic variation: ExAC boosts clinical variant interpretation in rare diseases.
  Nature reviews. Genetics 2016 Sep 17 (10): 584.
  Bahcall Orli
• Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
  Pharmacogenomics 2016 Jun .
  Ne?oldová Magdaléna, Stránecký Viktor, Hoda?ová Kate?ina, Hartmannová Hana, Piherová Lenka, P?istoupilová Anna, Mrázová Lenka, Vrablík Michal, Adámková V?ra, Hubá?ek Jaroslav A, Jirsa Milan, Kmoch Stanisl
• Somatic Mutations of PI3K in Early and Advanced Gallbladder Cancer: Further Options for an Orphan Cancer.
  The Journal of molecular diagnostics : JMD 2016 Mar .
  Roa Ivan, Garcia Hernan, Game Anakaren, de Toro Gonzalo, de Aretxabala Xabier, Javle Mili
• Importance of glucokinase -258G/A polymorphism in Asian Indians with post-transplant and type 2 diabetes mellitus.
  Intractable & rare diseases research 2016 Feb 5 (1): 25-30.
  Khan Imran Ali, Vattam Kiran Kumar, Jahan Parveen, Hasan Qurratulain, Rao Prag

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• Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective
  Austin Christopher P et al. Clinical and translational science 2017 Aug
• European Reference networks for rare diseases: what is the conceptual framework?
  Héon-Klin Véronique et al. Orphanet journal of rare diseases 2017 Aug 12(1) 137
• The ethical framework for performing research with rare inherited neurometabolic disease patients.
  Giannuzzi Viviana et al. European journal of pediatrics 2017 Mar 176(3) 395-405
• Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
  Osara Yetsa et al. Orphanet journal of rare diseases 2017 Jul 12(1) 132
• Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.
  Manna Raffaele et al. Internal and emergency medicine 2017 Jul

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