Genetic studies in intellectual disability and related disorders-Reference-Cited by-同舟云学术

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Genetic studies in intellectual disability and related disorders

Published:2015-10-27 Issue:1 Volume:17 Page:9-18
ISSN:1471-0056
Container-title:Nature Reviews Genetics
language:en
Short-container-title:Nat Rev Genet

Author:

Vissers Lisenka E. L. M.,Gilissen Christian,Veltman Joris A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/nrg3999.pdf

Reference122 articles.

1. Maulik, P. K., Mascarenhas, M. N., Mathers, C. D., Dua, T. & Saxena, S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res. Dev. Disabil. 32, 419–436 (2011).

2. Mefford, H. C., Batshaw, M. L. & Hoffman, E. P. Genomics, intellectual disability, and autism. N. Engl. J. Med. 366, 733–743 (2012).

3. Girirajan, S. et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N. Engl. J. Med. 367, 1321–1331 (2012).

4. de Ligt, J. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921–1929 (2012).

5. Gilissen, C. et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 511, 344–347 (2014). The first study to apply patient–parent trio-based whole-genome sequencing in a cohort of 50 patients with unexplained ID. A conclusive diagnosis was made in 21 of 50 patients. Also, it was estimated that genome sequencing as a first-tier test would identify the genetic cause in 62% of severe ID cases.

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