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Systems biology approaches to the search for disease genes in Hirschsprung's disease
European Conference of Human Genetics, Milan, Italy, 31 May - 3 June 2014
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, S201419
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease
European Journal of Human Genetics
Nature Publishing Group. The Journal's web site is located at
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, S2012167
Differential contributions of rare and common, coding and noncoding ret mutations to multifactorial hirschsprung disease liability
American Journal of Human Genetics
Cell Press. The Journal's web site is located at
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, A2010704
Hirschsprung disease, associated syndromes and genetics: A review
Journal of Medical Genetics
BMJ Group. The Journal's web site is located at
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, R2008492
The International Hirschsprung's Disease Consortium: differential liabiilties of coding and non-coding mutations in complex disease
53rd Annual International Congress of the British Association of Paediatric Suregons, Stockholm, Sweden, 18-21 July 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, A2006180
Differential liabilities of coding and non-coding mutations in complex disease
Annual Meeting of the American Society of Human Genetics. Salt Lake City, USA, October 25-29 2005.
Burzynski, G.; Amiel, J.; Antinolo, G; Borrego,, S.; Ceccherini, I; Emison, E; Eng, C; Fernandez, R; Garcia-Barcelo, MM; Griseri, P.; Hofstra, R; Kashuk, C; Lantieri, F; Lyonnet, S; Tam, PKH; Tullio-Pelet, A; West, K; Chakravarti, A2005120
Differential liabilities of rare coding and common non-coding RET mutations explain the multifactorial genetics of Hirschsprung disease.
Gordon Research Conference on Human Genetics and Genomics Salve Regina University Newport, RI, USA, July 24-29, 2005
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, A2005157
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