Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Mutagenesis, Insertional  [Clear All Filters]
2015
Campbell, I. M., Shaw, C. A., Stankiewicz, P. & Lupski, J. R. Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31, 382-92 (2015).
2014
Meloni, V. Ayres et al. Cytogenomic delineation and clinical follow-up of two siblings with an 8.5 Mb 6q24.2-q25.2 deletion inherited from a paternal insertion. Am J Med Genet A 164A, 2378-84 (2014).
Li, B. et al. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. Am J Med Genet A 164A, 2407-11 (2014).
Carvalho, C. M. B. et al. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. BMC Med Genet 15, 64 (2014).