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Showing results 25 to 37 of 37 < previous

	Title	Author(s)	Issue Date	Views
	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	72
	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	62
	Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a new syndrome? Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010	Shah, V Chung, BHY Hinek, A Chitayat, D	2010	132
	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	195
	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	121
	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	61
	Prenatal diagnosis of scalp congenital hemangiopericytoma Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Forrest, C Chung, BHY Silver, R Toi, A Blaser, S Taylor, G Viero, S Chitayat, D	2009	32
	Renal dysplasia - coarctation of aorta. A new association/syndrome: a report of 6 cases Proceeding/Conference:Annual Meeting of the American Society for Human Genetics, ASHG 2008	Chung, BHY Chitayat, D	2008	135
	Restrictive dermopathy with massive thrombosis: a previously uncreognized finding Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Hinek, A Chung, BHY Shannon, P Teitelbaum, R Chitayat, D	2009	25
	Situs inversus totalis in a fetus with a deletion at 7q36.2 detected on microarray analysis Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Andelfinger, G Hitz, MP Keating, S Mercier, J Teitelbaum, R Richter, A Chung, BHY Chitayat, D	2009	22
	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	42
	The first reported case of the dragon gene deletion in human. A case with a de-novo interstitial deletion of chromosome 5Q15-21.1 Proceeding/Conference:30th Annual David W. Smith Workshop	Chitayat, D Chung, BHY Shannon, P Brenner, GJ Toi, A Shaffer, L	2009	16
	Ulnar-Mammary Syndrome: expending the phenotype to include ankyloglossia and cleft lip and palate Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010	Jessen, J Chung, BHY Fernandez, B Li, C Chitayat, D	2010	125

Showing results 25 to 37 of 37 < previous