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MAGI Balkans, a laboratory for the diagnosis of rare genetic diseases Cover

MAGI Balkans, a laboratory for the diagnosis of rare genetic diseases

Open Access
|Dec 2017

References

  1. 1. Boycott KM, Vanstone MR, Bulman DE, MacKenzie AE. Rare-disease genetics in the era of next-generation sequencing: discovery to translation. Nat. Rev. Genet. [Internet]. 2013 [cited 2017 Oct 31];14:681-91. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23999272.10.1038/nrg355523999272
  2. 2. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, et al. International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. Am. J. Hum. Genet. [Internet]. 2017 [cited 2017 Oct 31];100:695-705. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28475856.10.1016/j.ajhg.2017.04.003542035128475856
  3. 3. Evangelista T, Hanna M, Lochmüller H. Congenital Myasthenic Syndromes with Predominant Limb Girdle Weakness. Lochmüller H, editor. J. Neuromuscul. Dis. [Internet]. 2015 [cited 2017 Oct 30];2:S21-9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/26870666.10.3233/JND-150098474674626870666
  4. 4. Sun W, Zheng W, Simeonov A. Drug discovery and development for rare genetic disorders. Am. J. Med. Genet. Part A [Internet]. 2017 [cited 2017 Oct 31];173:2307-22. Available from: http://www.ncbi.nlm.nih.gov/pubmed/28731526.10.1002/ajmg.a.38326566212928731526
  5. 5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. [Internet]. IOP Publishing; 2015;17:405-23. Available from: http://dx.doi.org/10.1038/gim.2015.30.10.1038/gim.2015.30454475325741868
  6. 6. Mattassi R, Manara E, Colombo PG, Manara S, Porcella A, Bruno G, et al. Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management. J. Vasc. Surg. [Internet]. 2017 [cited 2017 Jul 31]; Available from: http://www.ncbi.nlm.nih.gov/pubmed/28655553.
Language: English
Page range: 128 - 130
Published on: Dec 28, 2017
Published by: European Biotechnology Thematic Network Association
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year

© 2017 Elena Manara, Paolo E. Maltese, Giulia Guerri, Giuseppe Marceddu, Natale Capodicasa, Andi Abeshi, Matteo Bertelli, published by European Biotechnology Thematic Network Association
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.