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Showing results 1 to 9 of 9

	Title	Author(s)	Issue Date	Views
	Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability Journal:American Journal of Human Genetics	Emison, ES GarciaBarcelo, M Grice, EA Lantieri, F Amiel, J Burzynski, G Fernandez, RM Hao, L Kashuk, C West, K Miao, X Tam, PKH Griseri, P Ceccherini, I Pelet, A Jannot, AS De Pontual, L HenrionCaude, A Lyonnet, S Verheij, JBGM Hofstra, RMW Antiñolo, G Borrego, S McCallion, AS Chakravarti, A	2010	145
	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
	Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprungs disease Journal:Human Molecular Genetics	Amiel, J Attie, T Jan, D Pelet, A Edery, P Bidaud, C Lacombe, D Tam, PKH Simeoni, J Flori, E Nihoul-Fekete, C Munnich, A Lyonnet, S	1996	109
	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
	Interaction Between A Chromosome 10 Ret Enhancer And Chromosome 21 In The Down Syndrome-Hirschsprung Disease Association Journal:Human Mutation	Arnold, S Pelet, A Amiel, J Borrego, S Hofstra, R Tam, PKH Ceccherini, I Lyonnet, S Sherman, S Chakravarti, A	2009	61
	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
	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
	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 1 to 9 of 9