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Showing results 1 to 9 of 9

	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
	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
	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
	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
	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
	Practical guidelines for managing adults with 22q11.2 deletion synddrome Journal:Genetics in Medicine	Fung, WLA Butcher, NJ Costain, G Anddrade, DM Boot, E Chow, EWC Chung, BHY Cytrynbaum, C Faghfoury, H Fishman, L Garcia-Minaur, S George, S Lang, AE Repetto, G Shugar, A Silversides, C Swillen, A van Amelsvoort, T McDonald-McGinn, DM Bassett, AS	2015
	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 9 of 9