HKU Scholars Hub: Browsing DSpace

Browsing by Author Weksberg, R

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 中

or enter first few letters:

Showing results 1 to 20 of 32 next >

Title	Author(s)	Issue Date	Views
2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features Journal:American Journal of Medical Genetics, Part A	Chung, BH Stavropoulos, J Marshall, CR Weksberg, R Scherer, SW Yoon, G	2011	226
2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2009	Chung, BHY Stavropoulos, DJ Weksberg, R Yoon, G	2009	38
Autism spectrum disorders and epigenetics Journal:Journal of the American Academy of Child and Adolescent Psychiatry	Grafodatskaya, D Chung, B Szatmari, P Weksberg, R	2010	208
Beckwith-Wiedemann Syndrome Journal:UpToDate	Chung, BHY Shuman, C Choufani, S Weksberg, R	2013	198
Beckwith-Wiedemann Syndrome Journal:UpToDate	Chung, BHY Shuman, C Choufani, S Weksberg, R	2017	51
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	64
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	50
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion Journal:American Journal of Medical Genetics, Part A	Aldinger, KA Kogan, J Kimonis, V Fernandez, B Horn, D Klopocki, E Chung, B Toutain, A Weksberg, R Millen, KJ Barkovich, AJ Dobyns, WB	2013	72
Crosstalk between histone modifications and DNA methylation in patients with intellectual disability due to JARID1C mutations Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2010	Chung, B Grafodatskaya, D Butcher, DT Scherer, SW Abidi, FE Schwartz, CE Weksberg, R	2010	131
Crosstalk between histone modifications and DNA methylation in patients with intellectual disability due to JARID1C mutations Proceeding/Conference:Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2010	Chung, BHY Grafodatskaya, D Butcher, DT Scherer, SW Abidi, FE Schwartz, CE Weksberg, R	2010	124
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
Dysmorphology assessment on a population basesd cohort of 150 newfoundland children with autism spectrum disorder Proceeding/Conference:30th Annual David W. Smith Workshop	Fernandez, BA Turner, L MacKay, S Weksberg, R Chung, BHY Roberts, W Vardy, C Whitten, K Marshal, C Scherer, SW	2009	39
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
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome Journal:American Journal of Medical Genetics Part A	Sheppard, SE Campbell, IM Harr, MH Gold, N Li, D Bjomsoon, HT Cohen, JS Fahrner, JA Fatemi, A Harris, JR Nowak, C Zadeh, N Zand, DJ Falk, MJ Hakonarson, H Zackai, EH Quintero-Rivera, F Stevens, CA Grand, K Au, M Graham, JM Sanchez-Lara, PA Campo, MD Jones, MC Abdul-Rahman, O Alkuraya, FS Bassetti, JA Bergstrom, K Bhoj, E Dugan, S Kaplan, JD Derar, N Gripp, KW Hauser, N Innes, AM Keena, B Kodra, N Miller, R Nelson, B Nowaczyk, MJ Rahbeeni, Z Ben-Shachar, S Shieh, JT Slavotinek, A Sobering, AK Abbott, MA Allain, DC Amlie-Wolf, L Au, PYB Bedoukian, E Beek, G Barry, J Berg, J Bernstein, JA Cytrynbaum, C Chung, BHY Donoghue, S Dorrani, N Eaton, A Flores-Daboub, JA Dubbs, H Felix, CA Fong, CT Fung, LF Gangaram, B Goldstein, A Greenberg, R Ha, TK Hersh, J Izumi, K Kallish, S Kravets, E Kwok, PY Jobling, RK Knight Johnson, AE Kushner, J Lee, BH Levin, B Lindstrom, K Manickam, K Mardach, R McCormick, E McLeod, DR Mentch, FD Minks, K Muraresku, C Nelson, SF Porazzi, P Pichurin, PN Powell-Hamilton, NN Powis, Z Ritter, A Rogers, C Rohena, L Ronspies, C Schroeder, A Stark, Z Starr, L Stoler, J Suwannarat, P Velinov, M Weksberg, R Wilnai, Y	2021	21
Functional impact of global rare copy number variation in autism spectrum disorders Journal:Nature	Pinto, D Pagnamenta, AT Klei, L Anney, R Merico, D Regan, R Conroy, J Magalhaes, TR Correia, C Abrahams, BS Almeida, J Bacchelli, E Bader, GD Bailey, AJ Baird, G Battaglia, A Berney, T Bolshakova, N Bölte, S Bolton, PF Bourgeron, T Brennan, S Brian, J Bryson, SE Carson, AR Casallo, G Casey, J Chung, BHY Cochrane, L Corsello, C Crawford, EL Crossett, A Cytrynbaum, C Dawson, G De Jonge, M Delorme, R Drmic, I Duketis, E Duque, F Estes, A Farrar, P Fernandez, BA Folstein, SE Fombonne, E Freitag, CM Gilbert, J Gillberg, C Glessner, JT Goldberg, J Green, A Green, J Guter, SJ Hakonarson, H Heron, EA Hill, M Holt, R Howe, JL Hughes, G Hus, V Igliozzi, R Kim, C Klauck, SM Kolevzon, A Korvatska, O Kustanovich, V Lajonchere, CM Lamb, JA Laskawiec, M Leboyer, M Le Couteur, A Leventhal, BL Lionel, AC Liu, XQ Lord, C Lotspeich, L Lund, SC Maestrini, E Mahoney, W Mantoulan, C Marshall, CR Mcconachie, H Mcdougle, CJ Mcgrath, J Mcmahon, WM Merikangas, A Migita, O Minshew, NJ Mirza, GK Munson, J Nelson, SF Noakes, C Noor, A Nygren, G Oliveira, G Papanikolaou, K Parr, JR Parrini, B Paton, T Pickles, A Pilorge, M Piven, J Ponting, CP Posey, DJ Poustka, A Poustka, F Prasad, A Ragoussis, J Renshaw, K Rickaby, J Roberts, W Roeder, K Roge, B Rutter, ML Bierut, LJ Rice, JP Salt, J Sansom, K Sato, D Segurado, R Sequeira, AF Senman, L Shah, N Sheffield, VC Soorya, L Sousa, I Stein, O Sykes, N Stoppioni, V Strawbridge, C Tancredi, R Tansey, K Thiruvahindrapduram, B Thompson, AP Thomson, S Tryfon, A Tsiantis, J Van Engeland, H Vincent, JB Volkmar, F Wallace, S Wang, K Wang, Z Wassink, TH Webber, C Weksberg, R Wing, K Wittemeyer, K Wood, S Wu, J Yaspan, BL Zurawiecki, D Zwaigenbaum, L Buxbaum, JD Cantor, RM Cook, EH Coon, H Cuccaro, ML Devlin, B Ennis, S Gallagher, L Geschwind, DH Gill, M Haines, JL Hallmayer, J Miller, J Monaco, AP Nurnberger Jr, JI Paterson, AD PericakVance, MA Schellenberg, GD Szatmari, P Vicente, AM Vieland, VJ Wijsman, EM Scherer, SW Sutcliffe, JS Betancur, C	2010	138
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	173
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	48
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	239
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	83
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	73

Showing results 1 to 20 of 32 next >