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Showing results 1 to 5 of 5

	Title	Author(s)	Issue Date	Views
	2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Chung, BHY Stavropoulos, DJ Weksberg, R Yoon, G	2009	38
	Agenesis of the corpus callosum and autism associated with ZEB1 gene deletion: a case report Proceeding/Conference:CCMG 2014 & CCMG/CAGC joint Symposia	Inbar-Feigenberg, M Chung, BHY Marshall, CR Merico, D Stavropoulos, DJ Chitayat, D	2014	40
	Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 Proceeding/Conference:European Human Genetics Conference 2017	Schuurs-Hoeijmakers, JHM Landsverk, ML Foulds, N Kukolich, MK Gavrilova, RH Greville-Heygate, S Hanson-Kahn, A Bernstein, A Glass, J Chitayat, D Burrow, TA Husami, A Collins, K van der Aa, N Kooy, F Brown, KT Gadzicki, D Kini, U Alvarez, S Fernández-Jaén, A McGehee, F Selby, K Tarailo-Graovac, M Van Allen, A van Karnebeek, CD Stavropoulos, DJ Marshall, CR Merico, D Gregor, A Zweier, C Hopkin, RJ Chu, YW Chung, BHY de Vries, BB Devriendt, K Hurles, ME Brunner, HG	2017	57
	NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2014	Chonufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Luk, HM Lo, IFM Lam, STS Stavropoulos, DJ Gibson, B Reardon, M Brudno, M Mendoza-Londono, R Chitayat, D Weksberg, R	2014
	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

Showing results 1 to 5 of 5