Y. Abe, A. Oka, M. Mizuguchi, T. Igarashi, S. Ishikawa et al., both physically and functionally, Human Mutation, vol.30, issue.10, pp.946-55, 2009.
DOI : 10.1002/humu.21094

S. Aerts, D. Lambrechts, S. Maity, V. Loo, P. Coessens et al., Gene prioritization through genomic data fusion, Nature Biotechnology, vol.352, issue.5, pp.537-581, 2006.
DOI : 10.1038/nbt1203

C. Aguilella, C. Dubourg, J. Attia-sobol, J. Vigneron, M. Blayau et al., Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations, Hum Genet, vol.112, issue.2, pp.131-135, 2003.

E. Belloni, M. Muenke, E. Roessler, G. Traverso, J. Siegel-bartelt et al., Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly, Nature Genetics, vol.13, issue.3, pp.353-359
DOI : 10.1006/geno.1996.0469

C. Bendavid, C. Dubourg, I. Gicquel, L. Pasquier, P. Saugier-veber et al., Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes, Human Genetics, vol.22, issue.1-2, pp.1-8, 2006.
DOI : 10.1007/s00439-005-0097-6

C. Bendavid, C. Dubourg, L. Pasquier, I. Gicquel, L. Gallou et al., MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly, Human Mutation, vol.80, issue.12, pp.1189-97, 2007.
DOI : 10.1002/humu.20594

C. Bendavid, B. Haddad, A. Griffin, M. Huizing, C. Dubourg et al., Multicolor FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype, J Med Genet, 2006.

C. Bendavid, L. Rochard, C. Dubourg, J. Seguin, I. Gicquel et al., Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci, Human Mutation, vol.68, issue.Spec No 1, pp.1175-82, 2009.
DOI : 10.1002/humu.21016

URL : https://hal.archives-ouvertes.fr/inserm-00404487

C. Brewer, S. Holloway, P. Zawalnyski, A. Schinzel, and D. Fitzpatrick, A Chromosomal Deletion Map of Human Malformations, The American Journal of Human Genetics, vol.63, issue.4, pp.1153-1162, 1998.
DOI : 10.1086/302041

L. Brown, S. Odent, V. David, M. Blayau, C. Dubourg et al., Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination, Human Molecular Genetics, vol.10, issue.8, pp.791-797, 2001.
DOI : 10.1093/hmg/10.8.791

S. Brown, D. Warburton, L. Brown, C. Yu, E. Roeder et al., Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired, Nature Genetics, vol.20, issue.2, pp.180-183, 1998.
DOI : 10.1038/2484

P. Bullen, J. Rankin, and S. Robson, Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England, American Journal of Obstetrics and Gynecology, vol.184, issue.6, pp.1256-62, 2001.
DOI : 10.1067/mob.2001.111071

P. Campeau, A. Mew, N. Cartier, L. Mackay, K. Shaffer et al., Prenatal diagnosis of monosomy 1p36: A focus on brain abnormalities and a review of the literature, American Journal of Medical Genetics Part A, vol.11, issue.23, pp.146-3062, 2008.
DOI : 10.1002/ajmg.a.32563

L. Croen, G. Shaw, and E. Lammer, Holoprosencephaly: Epidemiologic and clinical characteristics of a California population, American Journal of Medical Genetics, vol.18, issue.3, pp.465-72, 1996.
DOI : 10.1002/(SICI)1096-8628(19960823)64:3<465::AID-AJMG4>3.0.CO;2-O

J. De-la-cruz, R. Bamford, R. Burdine, E. Roessler, A. Barkovich et al., A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects, Human Genetics, vol.110, issue.5, pp.422-430, 2002.
DOI : 10.1007/s00439-002-0709-3

C. Dubourg, L. Lazaro, L. Pasquier, C. Bendavid, M. Blayau et al., Molecular screening ofSHH,ZIC2,SIX3, andTGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations, Human Mutation, vol.97, issue.1, pp.43-51, 2004.
DOI : 10.1002/humu.20056

K. Gripp, D. Wotton, M. Edwards, E. Roessler, L. Ades et al., Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination, Nat Genet, vol.25, issue.2, pp.205-213, 2000.

D. Kamnasaran, C. Chen, K. Devriendt, L. Mehta, and D. Cox, Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes, Genomics, vol.85, issue.5, pp.608-629, 2005.
DOI : 10.1016/j.ygeno.2005.01.010

D. Koolen, J. Herbergs, J. Veltman, R. Pfundt, H. Van-bokhoven et al., Holoprosencephaly and preaxial polydactyly associated with a 1.24??Mb duplication encompassing FBXW11 at 5q35.1, Journal of Human Genetics, vol.103, issue.8, 2006.
DOI : 10.1007/s10038-006-0010-8

A. Lawson-yuen, S. Berend, J. Soul, and M. Irons, Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum, Clinical Dysmorphology, vol.15, issue.4, pp.217-237, 2006.
DOI : 10.1097/01.mcd.0000220609.17284.a9

L. Meur, N. Holder-espinasse, M. Jaillard, S. Goldenberg, A. Joriot et al., MEF2C haploinsufficiency caused either by microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations, J Med Genet, 2009.
URL : https://hal.archives-ouvertes.fr/inserm-00406331

D. Ledbetter and C. Martin, Cryptic telomere imbalance: A 15-year update, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.94, issue.4, pp.327-361, 2007.
DOI : 10.1002/ajmg.c.30149

N. Lehman, D. Zaleski, W. Sanger, and E. Adickes, Holoprosencephaly associated with an apparent isolated 2q37.1?2q37.3 deletion, American Journal of Medical Genetics, vol.16, issue.3, pp.179-81, 2001.
DOI : 10.1002/ajmg.1245

G. Merla, C. Howald, C. Henrichsen, R. Lyle, C. Wyss et al., Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes, The American Journal of Human Genetics, vol.79, issue.2, 2006.
DOI : 10.1086/506371

J. Ming, M. Kaupas, E. Roessler, H. Brunner, M. Golabi et al., Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly, Human Genetics, vol.110, issue.4, pp.297-301, 2002.
DOI : 10.1007/s00439-002-0695-5

M. Norman, Congenital malformations of the brain. Pathological, embryonical, clinical, radiological and genetics aspectes, pp.187-221, 1995.

E. Northrop, H. Ren, D. Bruno, J. Mcghie, J. Coffa et al., Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay, Human Mutation, vol.36, issue.5, pp.477-86, 2005.
DOI : 10.1002/humu.20243

C. Olsen, J. Hughes, L. Youngblood, and M. Sharpe-stimac, Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York state, 1984???1989, American Journal of Medical Genetics, vol.30, issue.5, pp.217-243, 1984.
DOI : 10.1002/(SICI)1096-8628(19971212)73:2<217::AID-AJMG20>3.0.CO;2-S

J. Overhauser, H. Mitchell, E. Zackai, D. Tick, K. Rojas et al., Physical mapping of the holoprosencephaly critical region in 18p11.3, Am J Hum Genet, vol.57, issue.5, pp.1080-1085, 1995.

L. Pasquier, C. Dubourg, M. Blayau, L. Lazaro, L. Marec et al., A new mutation in the six-domain of SIX3 gene causes holoprosencephaly, European Journal of Human Genetics, vol.8, issue.10, pp.797-800, 2000.
DOI : 10.1038/sj.ejhg.5200540

F. Rahimov, L. Ribeiro, E. De-miranda, A. Richieri-costa, and J. Murray, GLI2 mutations in four Brazilian patients: How wide is the phenotypic spectrum?, American Journal of Medical Genetics Part A, vol.14, issue.23, pp.2571-2577, 2006.
DOI : 10.1002/ajmg.a.31370

A. Rauch, J. Hoyer, S. Guth, C. Zweier, C. Kraus et al., Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation, American Journal of Medical Genetics Part A, vol.108, issue.19, pp.2063-74, 2006.
DOI : 10.1002/ajmg.a.31416

E. Roessler, E. Belloni, K. Gaudenz, P. Jay, P. Berta et al., Mutations in the human Sonic Hedgehog gene cause holoprosencephaly, Nature Genetics, vol.34, issue.3, pp.357-60, 1996.
DOI : 10.1038/ng0995-93

E. Roessler, Y. Du, J. Mullor, E. Casas, W. Allen et al., Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features, Proceedings of the National Academy of Sciences, vol.100, issue.23, pp.13424-13433, 2003.
DOI : 10.1073/pnas.2235734100

E. Roessler, F. Lacbawan, C. Dubourg, A. Paulussen, J. Herbergs et al., The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism, Hum Mutat, 2009.
URL : https://hal.archives-ouvertes.fr/inserm-00365990

E. Roessler, Y. Ma, M. Ouspenskaia, F. Lacbawan, C. Bendavid et al., Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans, Human Genetics, vol.279, issue.26, pp.393-400, 2009.
DOI : 10.1007/s00439-009-0628-7

URL : https://hal.archives-ouvertes.fr/inserm-00366120

E. Roessler, L. Mittaz, Y. Du, H. Scott, J. Chang et al., Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly ( HPE1 ), Human Genetics, vol.105, issue.5, 1999.
DOI : 10.1007/s004390051135

E. Roessler and M. Muenke, Holoprosencephaly: a paradigm for the complex genetics of brain development, Journal of Inherited Metabolic Disease, vol.21, issue.5, pp.481-97, 1998.
DOI : 10.1023/A:1005406719292

E. Roessler, M. Ouspenskaia, J. Karkera, J. Velez, A. Kantipong et al., Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly, The American Journal of Human Genetics, vol.83, issue.1, pp.18-29, 2008.
DOI : 10.1016/j.ajhg.2008.05.012

E. Roessler, P. W. Ouspenskaia, M. Karkera, J. Velez, J. Banerjee-basu et al., Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly, Molecular Genetics and Metabolism, vol.98, issue.1-2, pp.225-259, 2009.
DOI : 10.1016/j.ymgme.2009.05.005

H. Schroeder, J. Forbes, S. Mack, L. Davis, S. Norwood et al., Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations, Clinical Genetics, vol.112, issue.13, pp.285-92, 1986.
DOI : 10.1111/j.1399-0004.1986.tb00608.x

L. Shaffer, B. Bejjani, B. Torchia, S. Kirkpatrick, J. Coppinger et al., The identification of microdeletion syndromes and other chromosome abnormalities: Cytogenetic methods of the past, new technologies for the future, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.34, issue.4, pp.335-380, 2007.
DOI : 10.1002/ajmg.c.30152

M. Simovich, S. Bland, D. Peiffer, K. Gunderson, S. Cheung et al., Delineation of the proximal 3q microdeletion syndrome, American Journal of Medical Genetics Part A, vol.27, issue.13, pp.1729-1764, 2008.
DOI : 10.1002/ajmg.a.32292

L. Tranchevent, R. Barriot, S. Yu, S. Van-vooren, V. Loo et al., ENDEAVOUR update: a web resource for gene prioritization in multiple species, Nucleic Acids Research, vol.36, issue.Web Server, pp.377-84, 2008.
DOI : 10.1093/nar/gkn325

N. Tyshchenko, I. Lurie, and A. Schinzel, Chromosomal map of human brain malformations, Human Genetics, vol.47, issue.1, pp.73-80, 2008.
DOI : 10.1007/s00439-008-0528-2

L. Vissers, C. Van-ravenswaaij, R. Admiraal, J. Hurst, B. De-vries et al., Mutations in a new member of the chromodomain gene family cause CHARGE syndrome, Nature Genetics, vol.267, issue.9, pp.955-962, 2004.
DOI : 10.1086/302122

D. Wallis, E. Roessler, U. Hehr, L. Nanni, T. Wiltshire et al., Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly, Nat Genet, vol.22, issue.2, pp.196-204, 1999.