International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Author:

Boycott Kym M.,Rath Ana,Chong Jessica X.,Hartley Taila,Alkuraya Fowzan S.,Baynam Gareth,Brookes Anthony J.,Brudno Michael,Carracedo Angel,den Dunnen Johan T.,Dyke Stephanie O.M.,Estivill Xavier,Goldblatt Jack,Gonthier Catherine,Groft Stephen C.,Gut Ivo,Hamosh Ada,Hieter Philip,Höhn Sophie,Hurles Matthew E.,Kaufmann Petra,Knoppers Bartha M.,Krischer Jeffrey P.,Macek Milan,Matthijs Gert,Olry Annie,Parker Samantha,Paschall Justin,Philippakis Anthony A.,Rehm Heidi L.,Robinson Peter N.,Sham Pak-Chung,Stefanov Rumen,Taruscio Domenica,Unni Divya,Vanstone Megan R.,Zhang Feng,Brunner Han,Bamshad Michael J.,Lochmüller Hanns

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference66 articles.

1. United States Congress. (2002). Rare Diseases Act of 2002. https://www.gpo.gov/fdsys/pkg/PLAW-107publ280/html/PLAW-107publ280.htm.

2. The European Parliament and the Council of the European Union (1999). Regulation (EC) No 141/2000 of the European parliament and of the council of 16 December 1999 on orphan medicinal products. http://ec.europa.eu/health//sites/health/files/files/eudralex/vol-1/reg_2000_141_cons-2009-07/reg_2000_141_cons-2009-07_en.pdf.

3. Ana Rath, ed. (2014). Prevalence and incidence of rare diseases: Bibliographic data. In Orphanet Report Series: Rare Diseases collection. http://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf.

4. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

5. A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

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