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Showing results 1 to 5 of 5

	Title	Author(s)	Issue Date
	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
	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
	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
	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
	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

Showing results 1 to 5 of 5