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	Title	Author(s)	Issue Date	Views
	DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes Journal:The American Journal of Human Genetics	Choufani, S Gibson, WT Turinsky, AL Chung, BHY Wang, T Garg, K Vitriolo, A Cohen, ASA Cyrus, S Goodman, S Chater-Diehl, E Brzezinski, J Brudno, M Luk, HM White, SM Lynch, SA Clericuzio, C Temple, IK Flinter, F MdConnell, V Cushing, T Bird, LM Splitt, M Kerr, B Scherer, SW Machado, J Imagawa, E Okamoto, N Matsumoto, N Testa, G Iascone, M Tenconi, R Caluseriu, O Mendoza-Londono, R Chitayat, D Cytrynabum, C Tatton-Brown, K Weksberg, R	2020
	EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome Journal:Journal of Translational Genetics and Genomics	Goodman, SJ Cytrynbaum, C Chung, BHY Chater-Diehl, E Aziz, C Turinsky, AL Kellam, B Keller, M Ko, JM Caluseriu, O Grafodatskaya, D McCready, E Perrier, R Yeung, KS Luk, HM Machado, J Brudno, M Stavropoulos, DJ Scherer, SW Innes, AM Cheung, SW Choufani, S Weksberg, R	2020	46
	Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C Journal:BMC Medical Genomics	Grafodatskaya, D Chung, BHY Butcher, DJ Turinsky, AL Goodman, SJ Choufani, S Chen, YA Lou, Y Zhao, C Rajendram, R Abidi, FE Skinner, C Stavropoulos, J Bondy, CA Hamilton, J Wodak, S Scherer, SW Schwartz, CE Weksberg, R	2013
	NSD1 mutations generate a genome-wide DNA methylation signature Journal:Nature Communications	Choufani, S Cytrynbaum, C Chung, BHY Turinsky, AL Grafodatskaya, D Chen, YA Cohen, ASA Dupuis, L Butcher, DT Siu, MT Luk, HM Lo, IFM Lam, STS Caluseriu, O Stavropoulos, DJ Reardon, W Mendoza-Londono, R Brudno, M Gibson, WT Chitayat, D	2015
	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 6 of 6