S. Bolk, A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus, Proceedings of the National Academy of Sciences, vol.97, issue.1, pp.268-273, 2000.
DOI : 10.1073/pnas.97.1.268

S. Gabriel, Segregation at three loci explains familial and population risk in Hirschsprung disease, Nature Genetics, vol.31, pp.89-93, 2002.
DOI : 10.1038/ng868

A. Mccallion, Genomic Variation in Multigenic Traits: Hirschsprung Disease, Cold Spring Harbor Symposia on Quantitative Biology, vol.52, issue.0, pp.373-381, 2003.
DOI : 10.1073/pnas.93.7.3155

E. Emison, A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk, Nature, vol.11, issue.7035, pp.857-863, 2005.
DOI : 10.1086/319501

E. Grice, E. Rochelle, E. Green, A. Chakravarti, and A. Mccallion, Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer, Human Molecular Genetics, vol.14, issue.24, pp.3837-3845, 2005.
DOI : 10.1093/hmg/ddi408

J. Amiel, Hirschsprung disease, associated syndromes and genetics: a review, Journal of Medical Genetics, vol.45, issue.1, pp.1-14, 2008.
DOI : 10.1136/jmg.2007.053959

M. Carrasquillo, Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease, Nature Genetics, vol.8, issue.2, pp.237-244, 2002.
DOI : 10.1016/S0378-1119(00)00302-4

A. Mccallion, E. Stames, R. Conlon, and A. Chakravarti, Phenotype variation in two-locus mouse models of Hirschsprung disease: Tissue-specific interaction between Ret and Ednrb, Proceedings of the National Academy of Sciences, vol.100, issue.4, pp.1826-1831, 2003.
DOI : 10.1073/pnas.0337540100

L. De-pontual, Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease, Human Mutation, vol.119, issue.8, pp.790-796, 2007.
DOI : 10.1002/humu.20517

L. De-pontual, Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus, Journal of Medical Genetics, vol.43, issue.5, pp.419-423, 2006.
DOI : 10.1136/jmg.2005.040113

A. Schuchardt, D. Agati, V. Larsson-blomberg, L. Costantini, F. Pachnis et al., Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret, Nature, vol.367, issue.6461, pp.380-383, 1994.
DOI : 10.1038/367380a0

C. Leitch, Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome, Nature Genetics, vol.25, issue.4, pp.443-448, 2008.
DOI : 10.1038/ng.97
URL : https://hal.archives-ouvertes.fr/pasteur-00604849

N. Zaghloul and N. Katsanis, Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy, Journal of Clinical Investigation, vol.119, issue.3, pp.428-437, 2009.
DOI : 10.1172/JCI37041DS1

J. Tobin, Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome, Proceedings of the National Academy of Sciences, vol.105, issue.18, pp.6714-6719, 2008.
DOI : 10.1073/pnas.0707057105

J. Gerdes, Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response, Nature Genetics, vol.423, issue.11, pp.1350-1360, 2007.
DOI : 10.1038/ng.2007.12
URL : https://hal.archives-ouvertes.fr/pasteur-00604846

A. Ross, Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates, Nature Genetics, vol.121, issue.10, pp.1135-1140, 2005.
DOI : 10.1038/77068

M. Nachury, A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis, Cell, vol.129, issue.6, pp.1201-1213, 2007.
DOI : 10.1016/j.cell.2007.03.053
URL : https://hal.archives-ouvertes.fr/hal-00183618

J. Kim, The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression, Nature Genetics, vol.36, issue.5, pp.462-470, 2004.
DOI : 10.1038/ng1352

T. Heanue and V. Pachnis, Ret isoform function and marker gene expression in the enteric nervous system is conserved across diverse vertebrate species, Mechanisms of Development, vol.125, issue.8, pp.687-699, 2008.
DOI : 10.1016/j.mod.2008.04.006

A. Chakravarti, A. Mccallion, S. Lyonnet, C. Scriver, A. Beaudet et al., Hirschsprung Disease. The Metabolic and Molecular Bases of Inherited Disease, 2007.
URL : https://hal.archives-ouvertes.fr/inserm-00921630

A. Mccallion, RET, Hirschsprung disease and multiple endocrine neoplasia type 2. Inborn Errors of Development, 2008.

E. Davis, M. Brueckner, and N. Katsanis, The Emerging Complexity of the Vertebrate Cilium: New Functional Roles for an Ancient Organelle, Developmental Cell, vol.11, issue.1, pp.9-19, 2006.
DOI : 10.1016/j.devcel.2006.06.009

P. Aurora and C. Wallis, Jeune syndrome (asphyxiating thoracic dystrophy) associated with Hirschsprung disease, Clinical Dysmorphology, vol.8, issue.4, pp.259-263, 1999.
DOI : 10.1097/00019605-199910000-00005

H. Ozyurek, O. Kayacik, O. Gungor, and F. Karagoz, Rare association of Hirschsprung???s disease and Joubert syndrome, European Journal of Pediatrics, vol.18, issue.4, pp.475-477, 2008.
DOI : 10.1007/s00431-007-0504-1

A. Auricchio, Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease, The American Journal of Human Genetics, vol.64, issue.4, pp.1216-1221, 1999.
DOI : 10.1086/302329

E. Puffenberger, A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease, Cell, vol.79, issue.7, pp.1257-1266, 1994.
DOI : 10.1016/0092-8674(94)90016-7

J. Hartman, B. Garvik, and L. Hartwell, Principles for the Buffering of Genetic Variation, Science, vol.291, issue.5506, pp.1001-1004, 2001.
DOI : 10.1126/science.291.5506.1001

H. Kacser and J. Burns, The molecular basis of dominance, Genetics, vol.97, pp.639-666, 1981.

A. Pelet, Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease, Journal of Medical Genetics, vol.42, issue.3, p.18, 2005.
DOI : 10.1136/jmg.2004.028746

P. Chattopadhyay, Global survey of haplotype frequencies and linkage disequilibrium at the RET locus, European Journal of Human Genetics, vol.11, issue.10, pp.760-769, 2003.
DOI : 10.1038/sj.ejhg.5201036

S. Elworthy, J. Pinto, A. Pettifer, M. Cancela, and R. Kelsh, Phox2b function in the enteric nervous system is conserved in zebrafish and is sox10-dependent, Mechanisms of Development, vol.122, issue.5, pp.659-669, 2005.
DOI : 10.1016/j.mod.2004.12.008

S. Thomas, Human neural crest cells display molecular and phenotypic hallmarks of stem cells, Human Molecular Genetics, vol.17, issue.21, pp.3411-3425, 2008.
DOI : 10.1093/hmg/ddn235

A. Gherman, E. Davis, and N. Katsanis, The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia, Nature Genetics, vol.38, issue.9, pp.961-962, 2006.
DOI : 10.1074/mcp.M200037-MCP200