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Showing results 1 to 16 of 16

	Title	Author(s)	Issue Date
	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	Chung, BH Stavropoulos, J Marshall, CR Weksberg, R Scherer, SW Yoon, G	2011
	Agenesis of the corpus callosum and autism associated with ZEB1 gene deletion: a case report Proceeding/Conference:CCMG 2014 & CCMG/CAGC joint Symposia	Inbar-Feigenberg, M Chung, BHY Marshall, CR Merico, D Stavropoulos, DJ Chitayat, D	2014
	Clinical delineation of the PACS1-related syndrome: report on 19 patients Journal:American Journal of Medical Genetics	Janeke, HM Hoeijmakers, S Landsverk, ML Foulds, N Kukolich, MK Gavrilova, RH Greville-Heygate, S Hanson-Kahn, A Bernstein, JA Glass, J Chitayat, D Burrow, TA Husami, A Collins, K Wusik, K van der Aa, N Kooy, F Brown, KT Gadzicki, D Kini, U Alvarez, S Fernandez-Jaen, A McGehee, F Selby, K Tarailo-Graovac, M Van Allen, M van Karnebeek, CDM Stavropoulos, DJ Marshall, CR Gregor, A Zweler, C Hopkin, RJ Chu, WY Chung, BHY de Vries, BBA Devriendt, K DDD, STUDY Huries, ME Brunner, HG	2016
	Clinical delineation of the recurrent de novo c.607C>T mutation in PACS1 Proceeding/Conference:European Human Genetics Conference 2017	Schuurs-Hoeijmakers, JHM Landsverk, ML Foulds, N Kukolich, MK Gavrilova, RH Greville-Heygate, S Hanson-Kahn, A Bernstein, A Glass, J Chitayat, D Burrow, TA Husami, A Collins, K van der Aa, N Kooy, F Brown, KT Gadzicki, D Kini, U Alvarez, S Fernández-Jaén, A McGehee, F Selby, K Tarailo-Graovac, M Van Allen, A van Karnebeek, CD Stavropoulos, DJ Marshall, CR Merico, D Gregor, A Zweier, C Hopkin, RJ Chu, YW Chung, BHY de Vries, BB Devriendt, K Hurles, ME Brunner, HG	2017
	De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients Journal:npj Genomic Medicine	MAK, CCY Chow, PC Liu, APY Chan, YK Chu, WY Mok, TKG LEUNG, KC YEUNG, KS Chau, AKT Lowther, C Scherer, SW Marshall, CR Bassett, AS Chung, BHY	2016
	Exome sequencing of a pedigree with Caudal Regression Syndrome (CRS) Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2012	Cheng, G Wong, EHM Sham, PC Cherny, SS Maas, S Scherer, SW Marshall, CR Pereira, SL Tam, PKH Garcia-Barcelo, MM	2012
	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 copy number analysis uncovers a new HSCR gene: NRG3 Journal:PLoS Genetics	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, HY Liu, XL Wong, KKY Marshall, CR Scherer, S Cherny, SS Sham, PC Tam, PKH GarciaBarceló, MM	2012
	Genome-wide copy number analysis uncovers a new HSCR gene: NRG3 Proceeding/Conference:International Congress of Human Genetics, ICHG 2011	Garcia-Barcelo, M Tang, CSM So, MT Marshall, CR Scherer, S Cherny, S Sham, P Tam, P	2011
	Global developmental delay and characteristic facial features associated with PACS1 mutation: report of two cases Proceeding/Conference:CCMG 2014 & CCMG/CAGC joint Symposia	Chad, L Chung, BHY Marshall, CR Merico, D Babul-Hirji, R Stavropoulos, J Chitayat, D	2014
	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
	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
	Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 Journal:Molecular Autism	Mak, ASL Chiu, TA Leung, KC Mak, CCY Chu, WY Mok, TKG Tang, WF Chan, YK Tang, MHY Lau, ETK So, KW Tao, QV Fung, CW Wong, CNV Uddin, M Lee, SL Marshall, CR Scherer, SW Kan, ASY Chung, BHY	2017

Showing results 1 to 16 of 16