Insights from exome sequencing for endocrine disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
http://www.nature.com/articles/nrendo.2015.72.pdf
Reference104 articles.
1. Lander, E. S. et al. Initial sequencing and analysis of the human genome. Nature 409, 860–921 (2001).
2. Bamshad, M. J. et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat. Rev. Genet. 12, 745–755 (2011).
3. Biesecker, L. G. & Green, R. C. Diagnostic clinical genome and exome sequencing. N. Engl. J. Med. 371, 1170 (2014).
4. Biesecker, L. G., Shianna, K. V. & Mullikin, J. C. Exome sequencing: the expert view. Genome Biol. 12, 128 (2011).
5. Ng, S. B. et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat. Genet. 42, 790–793 (2010).
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