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Phenotypic spectrum associated with PTCHD1 deletion and truncating mutations includes intellectual disability and autism spectrum disorder
Clinical Genetics (In press)
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, MT201533
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome
64th ASHG Annual Meeting 2014
American Society of Human Genetics.
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, R201448
Agenesis of the corpus callosum and autism associated with ZEB1 gene deletion: a case report
38th Canadian College of Medical Geneticsits (CCMG) Annual Scientific Meeting 2014
Inbar-Feigenberg, M; Chung, BHY; Marshall, CR; Merico, D; Stavropoulos, DJ; Chitayat, D201449
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
63rd ASHG Annual Meeting 2013
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, R201393
Severe intellectual disability and autistic features associated with microduplication 2q23.1
European Journal of Human Genetics
Nature Publishing Group. The Journal's web site is located at
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, R2012379
2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype
ASHG Annual Meeting 2009
Chung, BHY; Stavropoulos, DJ; Weksberg, R; Yoon, G200964
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