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Showing results 27 to 32 of 32 < previous

	Title	Author(s)	Issue Date	Views
	Rare SUZ12 variants commonly cause an overgrowth phenotype Journal:American Journal of Medical Genetics Part C: Seminars in Medical Genetics	Cyrus, SS Cohen, ASA Agbahovbe, R Avela, K Yeung, KS Chung, BHY Luk, HM Tkachenko, N Choufani, S Weksberg, R Lopez-Rangel, E Brown, K Sanenz, MS Svihovec, S McCandless, SE Bird, LM Garcia, AG Cambello, MJ McWalter, K Schnur, RE An, J Jones, SJM Bhalla, SK Pinz, H Braddock, SR Gibson, WT	2019	17
	Role of epigenetic dysregulation in neurodevelopmental syndromes: lessons from KDM5C mutations Proceeding/Conference:ICHG-ASHG 2011 Joint Meeting	Grafodatskaya, D Chung, BHY Butcher, DT Goodman, S Choufan, S Lou, Y Zhao, C Rajendram, R Abidi, FE Skinner, C Hamilton, J Scherer, SW Schwartz, CE Weksberg, R	2011	64
	Severe intellectual disability and autistic features associated with microduplication 2q23.1 Journal:European Journal of Human Genetics	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, R	2012	80
	Sex specific methylation differences within the promoter of the non-coding RNA on the chromosome Xp11.4 suggest the maternal imprinted pattern Proceeding/Conference:Annual Meeting of the Organization for the study of Sex Differences, OSDD 2009	Grafodatskay, D Roberts, LJ Zha, CO Lo, Y Chung, BHY Scherer, SW Weksberg, R	2009	53
	Social skills impairments in girls with Turner syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013	Inbar-Feigenberg, M Grafodatskaya, D Choufani, S Chung, BHY Roberts, LJ Russell, C Roberts, W Hamilton, J Weksberg, R	2013	306
	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 Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2013	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, R	2013	89

Showing results 27 to 32 of 32 < previous