Results 1 to 11 of 11
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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
 
Agenesis of the Corpus Callosum and Autism associated with ZEB1 gene deletion - A case report
Proceedings/Conference:
CCMG 38th Annual Scientific Conference, Vancouver, Canada, 3-9 November 2014
Inbar-Feigenberg, M; Chung, BHY; Marshall, CR; Merico, D; Stavropoulos, DJ; Chitayat, D201412
 
Global developmental delay and characteristic facial features associated with PACS1 mutation- Report of two cases
Proceedings/Conference:
CCMG 38th Annual Scientific Conference, Vancouver, Canada, 3-9 November 2014
Chad, L; Chung, BHY; Marshall, CR; Merico, D; Babul-Hirji, R; Stavropoulos, J; Chitayat, D20147
 
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
 
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Journal:
PLoS Genetics
Publisher:
Public Library of Science. The Journal's web site is located at http://www.plosgenetics.org/
Tang, CSM; Cheng, G; So, MT; Yip, BHK; Miao, XP; Wong, EHM; Ngan, ESW; Lui, VCH; Song, YQ; Chan, D; Cheung, K; Yuan, ZW; Lei, L; Chung, PHY; Liu, XL; Wong, KKY; Marshall, CR; Scherer, S; Cherny, SS; Sham, PC; Tam, PKH; GarciaBarceló, MM2012300
 
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
 
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceedings/Conference:
12th ICHG 2011 Meeting
Publisher:
American Society of Human Genetics/ICHG 2011 Meeting Management Office.
Garcia-Barcelo, M; Tang, CSM; So, MT; Marshall, CR; Scherer, S; Cherny, S; Sham, P; Tam, P2011147
 
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, SW2011236
 
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
 
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
 
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