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Showing results 1 to 7 of 7

	Title	Author(s)	Issue Date
	Blood cell type-specific genome-wide DNA methylation analysis of Chinese patients with early-onset systemic lupus erythematosus identifies loss of DNA methylation in genes related to the Type I Interferon pathway Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017	Chung, BHY Yeung, KS Mok, TKG Choufani, S Lau, YL Weksberg, R	2017
	Differentiating truncatin MN1 variants in the C- and N-terminal regions: Ai-driven geno, -epigoeno, -phenotyping using deep facial phenotyping and methylation profiling. Proceeding/Conference:44th Annual David W. Smith Workshop on Malformations and Morphogenesis (25/08/2023-30/08/2023, Massachusetts)	Chung, Brian Hon Yin Mak, Christopher Chun Yu Klinkhammer, H Reko, N Lin, AE Gordon, GT Doherty, D Krawitz, PM Choufani, S	25-Aug-2023
	Differentiating truncation MN1 variants in the C- and N-terminal regions: Ai-driven geno, -epigoeno, -phenotyping using deep facial phenotyping and methylation profiling Proceeding/Conference:27th Annual Scientific Meeting - Theme: Lymphoma. Malaysian Society of Paediatric Haematology and Oncology (25/08/2023-30/08/2023, Massachusetts)	Chung, Brian Hon Yin Klinkhammer, H Reko, N Lin, AE Gordon, GT Doherty, D Krawitz, PM Choufani, S Mak, Christopher Chun Yu	25-Aug-2023
	Genome-wide DNA methylation analysis of Hong Kong Chinese systemic lupus erythematosus patients identified hypomethylated genes related to type I interferon Proceeding/Conference:Epigenomics of Common Diseases Conference	Yeung, KS Choufani, S Chen, YA Grafodatskaya, D Lee, PPW Yang, W Weksberg, R Lau, YL Chung, BHY	2013
	NSD1 mutations in Sotos syndrome alter the DNA methylation landscape of genes involved in somatic growth and neuronal transmission Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012	Grafodatskaya, D Inbar-Feigenberg, M Chung, BHY Cytrynbaum, C Choufani, S	2012
	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
	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 7 of 7