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Showing results 3 to 16 of 16 < previous

	Title	Author(s)	Issue Date	Views
	Erratum: COGENT (COlorectal cancer GENeTics): An international consortium to study the role of polymorphic variation on the risk of colorectal cancer (British Journal of Cancer 102 (447-454) DOI: 10.1038/sj.bjc.6605338)) Journal:British Journal of Cancer	Tomlinson, IPM Dunlop, M Campbell, H Zanke, B Gallinger, S Hudson, T Koessler, T Pharoah, PD Niittymäki, I Tuupanen, S Aaltonen, LA Hemminki, K Lindblom, A Försti, A Sieber, O Lipton, L Van Wezel, T Morreau, H Wijnen, JT Devilee, P Matsuda, K Nakamura, Y CastellvíBel, S RuizPonte, C Castells, A Carracedo, A Ho, JWC Sham, P Hofstra, RMW Vodicka, P Brenner, H Hampe, J Schafmayer, C Tepel, J Schreiber, S Völzke, H Lerch, MM Schmidt, CA Buch, S Moreno, V Villanueva, CM Peterlongo, P Radice, P Echeverry, MM Velez, A CarvajalCarmona, L Scott, R Penegar, S Broderick, P Tenesa, A Houlston, RS	2010	64
	Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations Journal:PLoS ONE	van de Putte, R Wijers, CHW Reutter, H Vermeulen, SH Marcelis, CLM Brosens, E Broens, PMA Homberg, M Ludwig, M Jenetzky, E Zwink, N Sloots, CEJ de Klein, A Brooks, AS Hofstra, RMW Holsink, SAC van der Zanden, LFM Galesloot, TE Tam, PKH Steehouwer, M Acuna-Hidalgo, R van de Vorst, M Kiemeney, LA Garcia-Barcelo, MM de Blaauw, I Brunner, H Roeleveld, N van Rooij, IALM	2019	35
	Exonic de novo mutations in sporadic Hirschsprung disease Proceeding/Conference:European Journal of Human Genetics	Hofstra, RMW Gui, H Schriemer, D Griseri, P Pelet, A Ruiz-Ferrer, M Berrios, C van Ijcken, W van den Hout, M Tam, PKH Cheng, W Tang, SM Eggen, BJL Matera, I Ceccherini, I Amiel, J Lyonnet, S Antinolo, G Borrego, S Chakravarti, A Garcia-Barcelo, MM	2014	49
	Fine mapping of the 9q31 Hirschsprung's disease locus Journal:Human Genetics	Tang, CS Sribudiani, Y Miao, XP De Vries, AR Burzynski, G So, MT Leon, YY Yip, BH Osinga, J Hui, KJWS Verheij, JBGM Cherny, SS Tam, PKH Sham, PC Hofstra, RMW GarciaBarceló, MM	2010	170
	Functional analyses of RET mutations in Chinese hirschsprung disease patients Journal:Birth Defects Research Part A: Clinical and Molecular Teratology	Leon, TYY So, MT Lui, VCH Hofstra, RMW Tam, PKH Ngan, ESW Garcia-Barcelo, MM	2012	179
	Genes regulating enteric nervous system development are impacted by Copy Number loss and modify penetrance in epistasis with RET Proceeding/Conference:European Journal of Human Genetics	Kuil, L Tang, SM Windster, JD Le, T Karim, A de Graaf, BM van der Helm, R van Bever, Y Sloots, CEJ Meeussen, C Tibboel, D de Klein, A Wijnen, RMH Amiel, J Lyonnet, S Garcia-Barcelo, MM Tam, PKH Alves, MM Brooks, AS Hofstra, RMW Brosens, E	2020	23
	Genetics of enteric neuropathies Journal:Developmental Biology	Brosens, E Burns, AJ Brooks, A Matera, I Borrego, S Ceccherini, I Tam, PKH Garcia-Barcelo, MM Thapar, N Benninga, MA Hofstra, RMW Alves, MM	2016	57
	Hirschsprung disease, associated syndromes and genetics: A review Journal:Journal of Medical Genetics	Amiel, J SproatEmison, E GarciaBarcelo, M Lantieri, F Burzynski, G Borrego, S Pelet, A Arnold, S Miao, X Griseri, P Brooks, AS Antinolo, G De Pontual, L ClementZiza, M Munnich, A Kashuk, C West, K Wong, KKY Lyonnet, S Chakravarti, A Tam, PKH Ceccherini, I Hofstra, RMW Fernandez, R	2008	190
	Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease Journal:European Journal of Human Genetics	Jannot, AS Amiel, J Pelet, A Lantieri, F Fernandez, RM Verheij, JBGM GarciaBarcelo, M Arnold, S Ceccherini, I Borrego, S Hofstra, RMW Tam, PKH Munnich, A Chakravarti, A ClergetDarpoux, F Lyonnet, S	2012	55
	Patterns and rates of exonic de novo mutations in sporadic Hirschsprung disease patients Proceeding/Conference:European Journal of Human Genetics	Gui, H Schriemer, D Eggen, BJL Hofstra, RMW van Ijcken, W van den Hout, M Griseri, P Matera, I Ceccherini, I Pelet, A Amiel, J Lyonnet, S Garcia-Barcelo, M Tam, PKH Ruiz-Ferrer, M Antinolo, G Borrego, S Berrios, C Chakravarti, A	2013	136
	Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development Journal:PLoS Genetics	Kuil, LE MacKenzie, KC Tang, CS Windster, JD Le, TL KARIM, A de Graaf, BM van der Helm, R van Bever, Y Sloots, CEJ Meeussen, C Tibboel, D de Klein, A Wijnen, RMH Amiel, J Lyonnet, S Garcia-Barcelo, MM Tam, PKH Alves, MM Brooks, AS Hofstra, RMW Brosens, E Editor(s):Barsh, GS	2021	11
	Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease Journal:Human Molecular Genetics	Tang, SM Gui, H Kapoor, A Kim, JH Luzon-Toro, B Pelet, A Burzynski, G Lantieri, F So, MT Berrios, C Shin, HD Fernandez, RM Le, TL Verheij, JBGM Matera, I Cherny, SS Nandakumar, P Cheong, HS Antinolo, G Amiel, J Seo, JM Kim, DY Oh, JT Lyonnet, S Borrego, S Ceccherini, I Hofstra, RMW Chakravarti, A Kim, HY Sham, PC Tam, PKH Garcia-Barcelo, MM	2016	103
	White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies Journal:Developmental Biology	Burns, AJ Goldstein, AM Newgreen, DF Stamp, L Schafer, KH Metzger, M Hotta, R Young, HM Andrews, PW Thapar, N Belkind-Gerson, J Bondurand, N Bornstein, JC Chan, WY Cheah, KSE Gershon, MD Heuckeroth, RO Hofstra, RMW Just, L Kapur, RP King, SK McCann, CJ Nagy, N Ngan, ESW Obermayr, F Pachnis, V Pasricha, PJ Sham, MH Tam, PKH Vanden Berghe, P	2016	80
	Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes Journal:Genome Biology	Gui, H Schriemer, D Cheng, WC Chauhan, RK Antinolo, G Berrios, C Bleda, M Brooks, AS Brouwer, RWW Burns, AJ Cherny, SS Dopazo, J Eggen, BJL Griseri, P Jalloh, B Le, TL Lui, VCH Luzon-Toro, B Matera, I Ngan, ESW Pelet, A Ruiz-Ferrer, M Sham, PC Shepherd, IT So, MT Sribudiani, Y Tang, SM van den Hout, MCGN van der Linde, HC van Ham, TJ van IJcken, WFJ Verheij, JBGM Amiel, J Borrego, S Ceccherini, I Chakravarti, A Lyonnet, S Tam, PKH Garcia-Barcelo, MM Hofstra, RMW	2017	88

Showing results 3 to 16 of 16 < previous