Results 1 to 5 of 5
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TypeTitleAuthor(s)YearViews
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, MT201414
 
Agenesis of the Corpus Callosum and Autism associated with ZEB1 gene deletion - A case report
Proceedings/Conference:
CCMG 38th Annual Scientific Conference, Vancouver, Canada, 3-9 November 2014
Inbar-Feigenberg, M; Chung, BHY; Marshall, CR; Merico, D; Stavropoulos, DJ; Chitayat, D201410
 
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
Proceedings/Conference:
63rd ASHG Annual Meeting 2013
Publisher:
The American Society of Human Genetics.
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, R201373
 
Severe intellectual disability and autistic features associated with microduplication 2q23.1
Journal:
European Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
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, R2012328
 
2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype
Proceedings/Conference:
ASHG Annual Meeting 2009
Chung, BHY; Stavropoulos, DJ; Weksberg, R; Yoon, G200934
 
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