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Showing results 13 to 32 of 32 < previous

Title	Author(s)	Issue Date
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
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
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
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
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
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
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
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
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome? Journal:American Journal of Medical Genetics. Part A	Chung, BHY Hinek, A Keating, S Weksberg, R Shah, V Blaser, S Hawkins, C Chitayat, D	2012
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinse activity related to reduced T1MP1: a new syndrome Proceeding/Conference:32nd Annual David W. Smith Workshop	Chung, BHY Hinek, A Shannon, P Keating, S Weksberg, R Shah, V Blaser, S Hawkins, C Chitayat, D	2011
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
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Journal:Journal of Medical Genetics	Fernandez, BA Roberts, W Chung, B Weksberg, R Meyn, S Szatmari, P JosephGeorge, AM MacKay, S Whitten, K Noble, B Vardy, C Crosbie, V Luscombe, S Tucker, E Turner, L Marshall, CR Scherer, SW	2010
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder Journal:European Journal of Medical Genetics	Chung, BHY Drmic, I Marshall, CR Grafodatskaya, D Carter, M Fernandez, BA Weksberg, R Roberts, W Scherer, SW	2011
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, MT	2015
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
Role of epigenetic dysregulation in neurodevelopmental syndromes: lessons from KDM5C mutations Proceeding/Conference:ICHG-ASHG 2011 Joint Meeting	Grafodatskaya, D Chung, BHY Butcher, DT Goodman, S Choufan, S Lou, Y Zhao, C Rajendram, R Abidi, FE Skinner, C Hamilton, J Scherer, SW Schwartz, CE Weksberg, R	2011
Severe intellectual disability and autistic features associated with microduplication 2q23.1 Journal:European Journal of Human Genetics	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, R	2012
Sex specific methylation differences within the promoter of the non-coding RNA on the chromosome Xp11.4 suggest the maternal imprinted pattern Proceeding/Conference:Annual Meeting of the Organization for the study of Sex Differences, OSDD 2009	Grafodatskay, D Roberts, LJ Zha, CO Lo, Y Chung, BHY Scherer, SW Weksberg, R	2009
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 13 to 32 of 32 < previous