Lessons learned from gene identification studies in Mendelian epilepsy disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2015251.pdf
Reference69 articles.
1. Gilissen C, Hoischen A, Brunner HG et al: Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012; 20: 490–497.
2. Rabbani B, Mahdieh N, Hosomichi K et al: Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet 2012; 57: 621–632.
3. Yang Y, Muzny DM, Xia F et al: Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014; 312: 1870–1879.
4. Koboldt DC, Steinberg KM, Larson DE et al: The next-generation sequencing revolution and its impact on genomics. Cell 2013; 155: 27–38.
5. Hildebrand MS, Dahl HH, Damiano JA et al: Recent advances in the molecular genetics of epilepsy. J Med Genet 2013; 50: 271–279.
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