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TypeTitleAuthor(s)YearViews
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, MT201422
 
NSD1+/- DNA methylation (DNAm) signature: A novel functional diagnostic tool for Sotos syndrome
Proceedings/Conference:
64th ASHG Annual Meeting 2014
Publisher:
American Society of Human Genetics.
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, R201424
 
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, R201388
 
Beckwith-Wiedemann Syndrome
Journal:
UpToDate
Publisher:
UpToDate, Inc..
Chung, BHY; Shuman, C; Choufani, S; Weksberg, R2013129
 
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
Proceedings/Conference:
63rd ASHG Annual Meeting 2013
Publisher:
The American Society of Human Genetics.
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, R201383
 
Genome-wide DNA methylation analysis of Hong Kong Chinese systemic lupus erythematosus patients identified hypomethylated genes related to type I interferon
Proceedings/Conference:
Epigenomics of Common Diseases Conference 2013
Yeung, KS; Choufani, S; Chen, YA; Grafodatskaya, D; Lee, PPW; Yang, W; Weksberg, R; Lau, YL; Chung, BHY201367
 
Social skills impairments in girls with Turner syndrome
Proceedings/Conference:
63rd ASHG Annual Meeting 2013
Publisher:
The American Society of Human Genetics.
Inbar-Feigenberg, M; Grafodatskaya, D; Choufani, S; Chung, BHY; Roberts, LJ; Russell, C; Roberts, W; Hamilton, J; Weksberg, R2013230
 
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
Journal:
American Journal of Medical Genetics, Part A
Publisher:
John Wiley & Sons, Inc.
Aldinger, KA; Kogan, J; Kimonis, V; Fernandez, B; Horn, D; Klopocki, E; Chung, B; Toutain, A; Weksberg, R; Millen, KJ; Barkovich, AJ; Dobyns, WB2013159
 
Severe intellectual disability and autistic features associated with microduplication 2q23.1
Journal:
European Journal of Human Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/ejhg
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, R2012365
 
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
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/journal/117928899/grouphome/home.html
Chung, BHY; Hinek, A; Keating, S; Weksberg, R; Shah, V; Blaser, S; Hawkins, C; Chitayat, D2012205
 
Overgrowth with increased proliferation of fibroblast and matrix metalloproteinse activity related to reduced T1MP1: a new syndrome
Proceedings/Conference:
32nd David W. Smith Workshop 2011
Chung, BHY; Hinek, A; Shannon, P; Keating, S; Weksberg, R; Shah, V; Blaser, S; Hawkins, C; Chitayat, D2011152
 
Role of epigenetic dysregulation in neurodevelopmental syndromes: lessons from KDM5C mutations
Proceedings/Conference:
American Society of Human Genetics/ICHG 2011 Meeting
Publisher:
American Society of Human Genetics/ICHG 2011.
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, R2011180
 
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder
Journal:
European Journal of Medical Genetics
Publisher:
Elsevier France, Editions Scientifiques et Medicales. The Journal's web site is located at http://www.elsevier.com/locate/ejmg
Chung, BHY; Drmic, I; Marshall, CR; Grafodatskaya, D; Carter, M; Fernandez, BA; Weksberg, R; Roberts, W; Scherer, SW2011260
 
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
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html
Chung, BH; Stavropoulos, J; Marshall, CR; Weksberg, R; Scherer, SW; Yoon, G2011462
 
Crosstalk between histone modifications and DNA methylation in patients with intellectual disability due to JARID1C mutations
Proceedings/Conference:
Abstract Book of the 34th Annual Scientific Meeting of the Canadian College of Medical Geneticists, CCMG 2010
Publisher:
Canadian College of Medical Geneticists.
Chung, BHY; Grafodatskaya, D; Butcher, DT; Scherer, SW; Abidi, FE; Schwartz, CE; Weksberg, R2010147
 
Crosstalk between histone modifications and DNA methylation in patients with intellectual disability due to JARID1C mutations
Proceedings/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, R2010234
 
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
Publisher:
BMJ Group. The Journal's web site is located at http://jmg.bmj.com/
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, SW2010291
 
Autism spectrum disorders and epigenetics
Journal:
Journal of the American Academy of Child and Adolescent Psychiatry
Publisher:
Elsevier BV. The Journal's web site is located at http://www.jaacap.com/
Grafodatskaya, D; Chung, B; Szatmari, P; Weksberg, R2010285
 
Functional impact of global rare copy number variation in autism spectrum disorders
Journal:
Nature
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.nature.com/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, C2010332
 
2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype
Proceedings/Conference:
ASHG Annual Meeting 2009
Chung, BHY; Stavropoulos, DJ; Weksberg, R; Yoon, G200955
 
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