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Showing results 19 to 32 of 32 < previous

	Title	Author(s)	Issue Date	Views
	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+/- 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
	Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome? Journal:American Journal of Medical Genetics. Part A	Chung, BHY Hinek, A Keating, S Weksberg, R Shah, V Blaser, S Hawkins, C Chitayat, D	2012	68
	Overgrowth with increased proliferation of fibroblast and matrix metalloproteinse activity related to reduced T1MP1: a new syndrome Proceeding/Conference:32nd Annual David W. Smith Workshop	Chung, BHY Hinek, A Shannon, P Keating, S Weksberg, R Shah, V Blaser, S Hawkins, C Chitayat, D	2011	126
	Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay Journal:Journal of Medical Genetics	Yeung, KS Ho, SP Lee, SL Kan, SYA Chan, YK Tang, MHY MAK, CCY Leung, KC So, PL Pfundt, R Marshall, CR Scherer, SW Choufani, S Weksberg, R Chung, BHY	2018	79
	Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Journal:Journal of Medical Genetics	Fernandez, BA Roberts, W Chung, B Weksberg, R Meyn, S Szatmari, P JosephGeorge, AM MacKay, S Whitten, K Noble, B Vardy, C Crosbie, V Luscombe, S Tucker, E Turner, L Marshall, CR Scherer, SW	2010	213
	Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Journal:European Journal of Medical Genetics	Chung, BHY Drmic, I Marshall, CR Grafodatskaya, D Carter, M Fernandez, BA Weksberg, R Roberts, W Scherer, SW	2011
	Phenotypic spectrum associated with PTCHD1 deletion and truncating mutations includes intellectual disability and autism spectrum disorder Journal:Clinical Genetics	Chaudhry, A Noor, A Degagne, B Baker, K Bok, LA Brady, AF Chitayat, D Chung, BHY Cytrynbaum, C Dyment, D Filges, I Helm, B Hutchison, HT Jeng, LJB Laumonnier, F Marshall, CR Menzel, M Parkash, S Parker, MJ The, DDD STUDY Raymond, FL Rideout, AL Roberts, W Rupps, R Schanze, I Schrander-Stumpel, CTRM Speevak, MD Stavropoulos, DJ Stevens, SJC Thomas, ERA Toutain, A Vergano, S Weksberg, R Scherer, SW Vincent, JB Carter, MT	2015	65
	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	24
	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	119
	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	205
	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	96
	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	134
	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 19 to 32 of 32 < previous