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Showing results 1 to 18 of 18

	Title	Author(s)	Issue Date	Views
	Beckwith-Wiedemann Syndrome Journal:UpToDate	Chung, BHY Shuman, C Choufani, S Weksberg, R	2017	44
	Beckwith-Wiedemann Syndrome Journal:UpToDate	Chung, BHY Shuman, C Choufani, S Weksberg, R	2013	182
	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	48
	Cell Lineage-specific Genome-wide DNA Methylation Analysis of Patients with Paediatric-onset Systemic Lupus Erythematosus Journal:Epigenetics	Yeung, KS Lee, TL Mok, MY Mak, CCY Yang, W Chong, PCY Lee, PPW Ho, MHK Choufani, S Lau, CS Lau, YL Weksberg, R Chung, BHY	2019	51
	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
	DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes Journal:The American Journal of Human Genetics	Choufani, S Gibson, WT Turinsky, AL Chung, BHY Wang, T Garg, K Vitriolo, A Cohen, ASA Cyrus, S Goodman, S Chater-Diehl, E Brzezinski, J Brudno, M Luk, HM White, SM Lynch, SA Clericuzio, C Temple, IK Flinter, F MdConnell, V Cushing, T Bird, LM Splitt, M Kerr, B Scherer, SW Machado, J Imagawa, E Okamoto, N Matsumoto, N Testa, G Iascone, M Tenconi, R Caluseriu, O Mendoza-Londono, R Chitayat, D Cytrynabum, C Tatton-Brown, K Weksberg, R	2020	48
	EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome Journal:Journal of Translational Genetics and Genomics	Goodman, SJ Cytrynbaum, C Chung, BHY Chater-Diehl, E Aziz, C Turinsky, AL Kellam, B Keller, M Ko, JM Caluseriu, O Grafodatskaya, D McCready, E Perrier, R Yeung, KS Luk, HM Machado, J Brudno, M Stavropoulos, DJ Scherer, SW Innes, AM Cheung, SW Choufani, S Weksberg, R	2020	46
	Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway Journal:PLoS ONE	YEUNG, KS Chung, BHY Choufani, S Mok, MYT Wong, WL MAK, CCY Yang, W Lee, PPW Wong, WHS Chen, YA Grafodatskaya, D Wong, RMS Lau, WCS Chan, TM Weksberg, R Lau, YL	2017	137
	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	33
	Human chromosome 7: DNA sequence and biology Journal:Science	Scherer, SW Cheung, J MacDonald, JR Osborne, LR Nakabayashi, K Herbrick, JA Carson, AR ParkerKatiraee, L Skaug, J Khaja, R Zhang, J Hudek, AK Li, M Haddad, M Duggan, GE Fernandez, BA Kanematsu, E Gentles, S Christopoulos, CC Choufani, S Kwasnicka, D Zheng, XH Lai, Z Nusskern, D Zhang, Q Gu, Z Lu, F Zeesman, S Nowaczyk, MJ Teshima, I Chitayat, D Shuman, C Weksberg, R Zackai, EH Grebe, TA Cox, SR Kirkpatrick, SJ Rahman, N Friedman, JM Heng, HHQ Pelicci, PG LoCoco, F Belloni, E Shaffer, LG Pober, B Morton, CC Gusella, JF Bruns, GAP Korf, BR Quade, BJ Ligon, AH Ferguson, H Higgins, AW Leach, NT Herrick, SR Lemyre, E Farra, CG Kim, HG Summers, AM Gripp, KW Roberts, W Szatmari, P Winsor, EJT Grzeschik, KH Teebi, A Minassian, BA Kere, J Armengol, L Pujana, MA Estivill, X Wilson, MD Koop, BF Tosi, S Moore, GE Boright, AP Zlotorynski, E Kerem, B Kroisel, PM Petek, E Oscier, DG Mould, SJ Döhner, H Döhner, K Rommens, JM Vincent, JB Venter, JC Li, PW Mural, RJ Adams, MD Tsui, LC	2003	217
	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	71
	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 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	23
	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
	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
	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	108
	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

Showing results 1 to 18 of 18