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Sensitive quantitative detection of somatic mosaic mutation in “double cortex” syndrome Volume 19, issue 4, December 2017

  • [Abyzov et al., 2017] Abyzov A., Tomasini L., Zhou B. One thousand somatic SNVs per skin fibroblast cell set baseline of mosaic mutational load with patterns that suggest proliferative origin. Genome Res. 2017;27:512-523.
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  • [Do and Dobrovic, 2015] Do H., Dobrovic A. Sequence artifacts in DNA from formalin-fixed tissues: causes and strategies for minimization. Clin Chem. 2015;61:64-71.
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  • [Mineyko et al., 2010] Mineyko A., Doja A., Hurteau J., Dobyns W.B., Das S., Boycott K.M. A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. J Child Neurol. 2010;25:738-741.
  • [Oxnard et al., 2014] Oxnard G.R., Paweletz C.P., Kuang Y. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA. Clin Cancer Res. 2014;20:1698-1705.
  • [Pilz et al., 1999] Pilz D.T., Kuc J., Matsumoto N. Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. Hum Mol Genet. 1999;8:1757-1760.
  • [Poduri et al., 2013] Poduri A., Evrony G.D., Cai X., Walsh C.A. Somatic mutation genomic variation and neurological disease. Science. 2013;341:1237758.
  • [Shirley et al., 2013] Shirley M.D., Tang H., Gallione C.J. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368:1971-1979.
  • [Sicca et al., 2003] Sicca F., Kelemen A., Genton P. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003;61:1042-1046.
  • [Tsao et al., 2015] Tsao S.C., Weiss J., Hudson C. Monitoring response to therapy in melanoma by quantifying circulating tumour DNA with droplet digital PCR for BRAF and NRAS mutations. Sci Rep. 2015;5:11198.
  • [Uyanik et al., 2007] Uyanik G., Morris-Rosendahl D.J., Stiegler J. Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology. 2007;69:442-447.
  • [Vadlamudi et al., 2010] Vadlamudi L., Dibbens L.M., Lawrence K.M. Timing of de novo mutagenesis-a twin study of sodium channel mutations. N Engl J Med. 2010;363:1335-1340.