Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-15814-7.pdf
Reference68 articles.
1. Youssoufian, H. & Pyeritz, R. E. Mechanisms and consequences of somatic mosaicism in humans. Nature reviews. Genetics 3, 748–758, https://doi.org/10.1038/nrg906 (2002).
2. Veltman, J. A. & Brunner, H. G. De novo mutations in human genetic disease. Nature reviews. Genetics 13, 565–575, https://doi.org/10.1038/nrg3241 (2012).
3. Biesecker, L. G. & Spinner, N. B. A genomic view of mosaicism and human disease. Nature reviews. Genetics 14, 307–320, https://doi.org/10.1038/nrg3424 (2013).
4. Poduri, A., Evrony, G. D., Cai, X. & Walsh, C. A. Somatic mutation, genomic variation, and neurological disease. Science 341, 1237758, https://doi.org/10.1126/science.1237758 (2013).
5. Campbell, I. M., Shaw, C. A., Stankiewicz, P. & Lupski, J. R. Somatic mosaicism: implications for disease and transmission genetics. Trends in genetics: TIG 31, 382–392, https://doi.org/10.1016/j.tig.2015.03.013 (2015).
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