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Showing results 1 to 15 of 15

	Title	Author(s)	Issue Date	Views
	A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease Journal:PLoS Genetics	Mederer, T Schmitteckert, S Volz, J Martinez, C Roth, R Thumberger, T Eckstein, V Scheuerer, J Thoni, C Lasitschka, F Carstensen, L Gunther, P Holland-Cunz, S Hofstra, R Brosens, E Rosenfeld, JA Schaaf, CP Schriemer, D Ceccherini, I Rusmini, M Tilghman, J Luzon-Toro, B Torroglosa, A Borrego, S Tang, CSM Garcia-Barcelo, MM Tam, P Paramasivam, N Bewerunge-Hudler, M De La Torre, C Gretz, N Rappold, GA Romero, P Niesler, B McCallion, AS	2020	24
	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
	Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung diseases Proceeding/Conference:GRC on Human Genetics & Genomics	Emison, E Burzynski, G Amiel, J Borrego, S Ceccherini,, I Fernandez, R Garcia-Barcelo, MM Griseri, P Hofstra, R Kashuk, CS Lantieri, F Lyonnet, S Tam, PKH Pecina, A Tullio-Pelet,, A West, K Chakravarti, A	2005	150
	Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease Journal:Scientific Reports	Luzon-Toro, B GUI, H Ruiz-Ferrer, M Tang, SM Fernandez, RM Sham, PC Torroglosa, A Tam, PKH Espino-Paisan, L Cherny, SS Bleda, M Enguix-Riego, MDV Dopazo, J Antinolo, G Garcia-Barcelo, MM Borrego, S	2015	65
	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
	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
	Higher prevalence of Hirschsprung disease in China explained by a common RET mutation Proceeding/Conference:Annual Meeting of the American Society of Human Genetics, ASHG 2006	Garcia-Barcelo, MM Amiel, J Antinolo, G Borrego, S Burzynski, G Ceccherini, I Emison, E Eng, C Fernandez, R Griseri, P Hofstra, R Kashuk, C Lantien, F Lyonnet, S Miao, X Tam, PKH Tullio-Pelet, A West, K Chakravarti, A	2006	128
	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
	The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease Proceeding/Conference:Annual International Congress of the British Association of Paediatric Suregons, BAPS 2006	Tam, PKH Garcia-Barcelo, MM Tullio-Pelet, A Lyonnet, S Lantieri, F Kashuk, C Hofstra, R Griseri, P Fernandez, R Eng, C Emison, E Burzynski, G Ceccherini, I Borrego, S Antinolo, G Amiel, J West, K Chakravarti, A	2006	110
	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
	Systems biology approaches to the search for disease genes in Hirschsprung‘s disease Proceeding/Conference:European Journal of Human Genetics	Luzon-Toro, B Bleda, M Fernandez, RM Garcia-Alonso, L Arnold, S Sribudiani, Y Besmond, C Lantieri, F Torroglosa, A Enguix-Riego, M Garcia-Barcelo, MM Tam, PKH Ceccherini, I Lyonnet, S Hofstra, RM Chakravarti, A Antinolo, G Dopazo, J Borrego, S	2014	43
	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 15 of 15