Prenatal Diagnostic Exome Sequencing: a Review
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/article/10.1007/s40142-017-0120-y/fulltext.html
Reference72 articles.
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3. Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics. 2009;4:69–72. doi: 10.1186/1479-7364-4-2-69 .
4. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921–9. doi: 10.1056/NEJMoa1206524 .
5. Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, et al. Clinical exome sequencing for genetic identification of rare Mendelian disorders. JAMA. 2014;312:1880–7. doi: 10.1001/jama.2014.14604 .
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