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A specific DNA methylation signature associated with NSD1+/- mutations in Sotos syndrome reveals a significant genome-wide loss of DNA methylation (DNAm) targeting CGs in regulatory regions of key developmental genes
63rd ASHG Annual Meeting 2013
The American Society of Human Genetics.
Choufani, S; Cytrynbaum, C; Turinsky, AL; Chen, YA; Grafodatskaya, D; Xiang, J; Feigenberg, M; Chung, BHY; Stavropoulos, DJ; Mendoza-Londono, R; Chitayat, D; Gibson, WT; Reardon, M; Brudno, M; Weksberg, R201366
Severe intellectual disability and autistic features associated with microduplication 2q23.1
European Journal of Human Genetics
Nature Publishing Group. The Journal's web site is located at
Chung, BHY; Mullegama, S; Marshall, CR; Lionel, AC; Weksberg, R; Dupuis, L; Brick, L; Li, C; Scherer, SW; Aradhya, S; Stavropoulos, DJ; Elsea, SH; MendozaLondono, R2012306
2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype
ASHG Annual Meeting 2009
Chung, BHY; Stavropoulos, DJ; Weksberg, R; Yoon, G200927
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