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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, MT201414
 
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, R201373
 
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, R2012328
 
Exome sequencing of a pedigree with Caudal Regression Syndrome (CRS)
Proceedings/Conference:
Annual Meeting of American Society of Human Genetics, ASHG 2012
Publisher:
American Society of Human Genetics.
Cheng, G; Wong, EHM; Sham, PC; Cherny, SS; Maas, S; Scherer, SW; Marshall, CR; Pereira, SL; Tam, PKH; Garcia-Barcelo, MM2012160
 
Crosstalk between histone modification and DNA methylation in patients with intellectual disability syndrome due to JARID1C mutations
Proceedings/Conference:
Canadian Epigenetics Conference, Eh! 2011
Chung, BHY; Grafodatskaya, D; Butcher, DT; Scherer, SW; Abidi, FE; Schwartz, CE; Wekserg, R2011154
 
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, SW2011235
 
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, R2011156
 
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, G2011417
 
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, C2010280
 
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, R2010127
 
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, SW2010267
 
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, R2010210
 
Sex specific methylation differences within the promoter of the non-coding RNA on the chromosome Xp11.4 suggest the maternal imprinted pattern
Proceedings/Conference:
3rd 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, R2009154
 
Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis
Journal:
Nature Genetics
Publisher:
Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Abecasis, G; Tam, PKH; Bustamante, CD; Ostrander, EA; Scherer, SW; Chanock, SJ; Kwok, PY; Brookes, AJ2007151
 
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
Journal:
Clinical Chemistry
Publisher:
American Association for Clinical Chemistry, Inc. The Journal's web site is located at http://www.clinchem.org
GarciaBarceló, M; So, MT; Lau, DKC; Leon, TYY; Yuan, ZW; Cai, WS; Lui, VCH; Fu, M; Herbrick, JA; Gutter, E; Proud, V; Li, L; PierreLouis, J; Aleck, K; Van Heurn, E; Belloni, E; Scherer, SW; Tam, PKH2006233
 
Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia
Journal:
American Journal of Human Genetics
Publisher:
Cell Press. The Journal's web site is located at http://www.cell.com/AJHG/
Feuk, L; Kalervo, A; LipsanenNyman, M; Skaug, J; Nakabayashi, K; Finucane, B; Hartung, D; Innes, M; Kerem, B; Nowaczyk, MJ; Rivlin, J; Roberts, W; Senman, L; Summers, A; Szatmari, P; Wong, V; Vincent, JB; Zeesman, S; Osborne, LR; Cardy, JO; Kere, J; Scherer, SW; HannulaJouppi, K2006528
 
Altered expression and deletion of RMO1 in osteosarcoma
Journal:
International Journal of Cancer
Publisher:
John Wiley & Sons, Inc.. The Journal's web site is located at http://www3.interscience.wiley.com/journal/29331/home
Eppert, K; Wunder, JS; Aneliunas, V; Tsui, LC; Scherer, SW; Andrulis, IL20051,219
 
Characterization of the segmental duplication LCR7-20 in the human genome
Journal:
Genomics
Publisher:
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ygeno
Liu, X; Li, X; Li, M; Acimovic, YJ; Li, Z; Scherer, SW; Estivill, X; Tsui, LC20041,023
 
Human chromosome 7: DNA sequence and biology
Journal:
Science
Publisher:
American Association for the Advancement of Science. The Journal's web site is located at http://sciencemag.org
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, LC2003783
 
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence.
Journal:
Genome biology
Publisher:
BioMed Central Ltd.
Cheung, J; Estivill, X; Khaja, R; MacDonald, JR; Lau, K; Tsui, LC; Scherer, SW2003356
 
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