N. Akshoomoff, S. N. Mattson, and P. D. Grossfeld, Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q, Genet Med, 2014.

M. Alarcon, B. S. Abrahams, J. L. Stone, J. A. Duvall, J. V. Perederiy et al., Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene, Am J Hum Genet, vol.82, pp.150-159, 2008.

D. E. Arking, D. J. Cutler, C. W. Brune, T. M. Teslovich, K. West et al., A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism, Am J Hum Genet, vol.82, pp.160-164, 2008.

J. Bernaciak, K. Szczaluba, K. Derwinska, B. Wisniowiecka-kowalnik, E. Bocian et al., Clinical and molecularcytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3), Am J Med Genet A, vol.146, pp.2449-2454, 2008.

L. J. Bierut, A. Agrawal, K. K. Bucholz, K. F. Doheny, C. Laurie et al., A genome-wide association study of alcohol dependence, Proc Natl Acad Sci U S A, vol.107, pp.5082-5087, 2010.

R. L. Buckner, D. Head, J. Parker, A. F. Fotenos, D. Marcus et al., A unified approach for morphometric and functional data analysis in young, old, and demented adults using automated atlas-based head size normalization: reliability and validation against manual measurement of total intracranial volume, Neuroimage, vol.23, pp.724-738, 2004.

J. G. Carlton, M. V. Bujny, B. J. Peter, V. M. Oorschot, A. Rutherford et al., Sorting nexin-2 is associated with tubular elements of the early endosome, but is not essential for retromer-mediated endosome-to-TGN transport, J Cell Sci, vol.118, pp.4527-4539, 2005.

B. P. Coe, K. Witherspoon, J. A. Rosenfeld, B. W. Van-bon, A. T. Vulto-van-silfhout et al., Refining analyses of copy number variation identifies specific genes associated with developmental delay, Nat Genet, vol.46, pp.1063-1071, 2014.

C. D. Coldren, Z. Lai, P. Shragg, E. Rossi, S. C. Glidewell et al., Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome), Neurogenetics, vol.10, pp.89-95, 2009.

J. N. Constantino and R. D. Todd, Intergenerational transmission of subthreshold autistic traits in the general population, Biol Psychiatry, vol.57, pp.655-660, 2005.

G. M. Cooper, B. P. Coe, S. Girirajan, J. A. Rosenfeld, T. H. Vu et al., A copy number variation morbidity map of developmental delay, Nat Genet, vol.43, pp.838-846, 2011.

R. W. Cox, AFNI: software for analysis and visualization of functional magnetic resonance neuroimages, Comput Biomed Res, vol.29, pp.162-173, 1996.

S. De-rubeis, E. Pasciuto, K. W. Li, E. Fernandez, D. Marino et al., CYFIP1 coordinates mRNA translation and cytoskeleton remodeling to ensure proper dendritic spine formation, Neuron, vol.79, pp.1169-1182, 2013.

T. Fernandez, T. Morgan, N. Davis, A. Klin, A. Morris et al., Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome, Am J Hum Genet, vol.74, pp.1286-1293, 2004.

O. D. Gil, G. Zanazzi, A. F. Struyk, and J. L. Salzer, Neurotrimin mediates bifunctional effects on neurite outgrowth via homophilic and heterophilic interactions, J Neurosci, vol.18, pp.9312-9325, 1998.
DOI : 10.1523/jneurosci.18-22-09312.1998
URL : http://www.jneurosci.org/content/jneuro/18/22/9312.full.pdf

S. Girirajan, Z. Brkanac, B. P. Coe, C. Baker, L. Vives et al., Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes, PLoS Genet, vol.7, p.1002334, 2011.

P. D. Grossfeld, T. Mattina, Z. Lai, R. Favier, K. L. Jones et al., The 11q terminal deletion disorder: a prospective study of 110 cases, Am J Med Genet A, vol.129, pp.51-61, 2004.

A. Guerin, D. J. Stavropoulos, Y. Diab, S. Chenier, H. Christensen et al., Interstitial deletion of 11q-implicating the KIRREL3 gene in the neurocognitive delay associated with Jacobsen syndrome, Am J Med Genet A, vol.158, pp.2551-2556, 2012.

D. Hadley, Z. L. Wu, C. Kao, A. Kini, A. Mohamed-hadley et al., The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism, Nat Commun, vol.5, p.4074, 2014.
URL : https://hal.archives-ouvertes.fr/inserm-01009668

T. Hashimoto, S. Maekawa, and S. Miyata, IgLON cell adhesion molecules regulate synaptogenesis in hippocampal neurons, Cell Biochem Funct, vol.27, pp.496-498, 2009.
DOI : 10.1002/cbf.1600

T. Hayashi, T. Okabe, Y. Nasu-nishimura, F. Sakaue, S. Ohwada et al., PX-RICS, a novel splicing variant of RICS, is a main isoform expressed during neural development, Genes Cells, vol.12, pp.929-939, 2007.

G. Huguet, E. Ey, and T. Bourgeron, The genetic landscapes of autism spectrum disorders, Annu Rev Genomics Hum Genet, vol.14, pp.191-213, 2013.
URL : https://hal.archives-ouvertes.fr/pasteur-01470293

, The International HapMap Project, Nature, vol.426, pp.789-796, 2003.

I. Iossifov, B. J. O'roak, S. J. Sanders, M. Ronemus, N. Krumm et al., The contribution of de novo coding mutations to autism spectrum disorder, Nature, vol.515, pp.216-221, 2014.

I. Iossifov, M. Ronemus, D. Levy, Z. Wang, I. Hakker et al.,

, De novo gene disruptions in children on the autistic spectrum, Neuron, vol.74, pp.285-299

M. Jenkinson, P. Bannister, M. Brady, and S. Smith, Improved optimization for the robust and accurate linear registration and motion correction of brain images, Neuroimage, vol.17, pp.825-841, 2002.

T. Ji, Y. Wu, H. Wang, W. J. Jiang, and Y. , Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay, J Hum Genet, vol.55, pp.486-489, 2010.

A. Kan, T. Ikeda, T. Saito, F. Yano, A. Fukai et al., Screening of chondrogenic factors with a realtime fluorescence-monitoring cell line ATDC5-C2ER: identification of sorting nexin 19 as a novel factor, Arthritis Rheum, vol.60, pp.3314-3323, 2009.

L. Kanner, Autistic disturbances of affective contact, Acta Paedopsychiatr, vol.35, pp.100-136, 1968.

C. S. Leblond, J. Heinrich, R. Delorme, C. Proepper, C. Betancur et al., Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders, vol.8, p.1002521, 2012.
URL : https://hal.archives-ouvertes.fr/inserm-00834560

C. S. Leblond, C. Nava, A. Polge, J. Gauthier, G. Huguet et al., Metaanalysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments, vol.10, p.1004580, 2014.
URL : https://hal.archives-ouvertes.fr/inserm-01061498

F. Liu, A. Arias-vasquez, K. Sleegers, Y. S. Aulchenko, M. Kayser et al.,

C. Broeckhoven, B. A. Oostra, and C. M. Van-duijn, A genomewide screen for lateonset Alzheimer disease in a genetically isolated Dutch population, Am J Hum Genet, vol.81, pp.17-31, 2007.

T. Mattina, C. S. Perrotta, and P. Grossfeld, Jacobsen syndrome, Orphanet J Rare Dis, vol.4, p.9, 2009.

T. Mcarthur and A. Ohtoshi, A brain-specific homeobox gene, Bsx, is essential for proper postnatal growth and nursing, Mol Cell Biol, vol.27, pp.5120-5127, 2007.

C. J. Mcnamee, J. E. Reed, M. R. Howard, A. P. Lodge, and D. J. Moss, Promotion of neuronal cell adhesion by members of the IgLON family occurs in the absence of either support or modification of neurite outgrowth, J Neurochem, vol.80, pp.941-948, 2002.

Y. Nasu-nishimura, T. Hayashi, T. Ohishi, T. Okabe, S. Ohwada et al., Role of the Rho GTPase-activating protein RICS in neurite outgrowth, Genes Cells, vol.11, pp.607-614, 2006.

B. J. O'roak, H. A. Stessman, E. A. Boyle, K. T. Witherspoon, B. Martin et al., Recurrent de novo mutations implicate novel genes underlying simplex autism risk, Nat Commun, vol.5, p.5595, 2014.

B. J. O'roak, L. Vives, S. Girirajan, E. Karakoc, N. Krumm et al., Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations, Nature, vol.485, pp.246-250, 2012.

Y. Pan, K. S. Wang, and N. Aragam, NTM and NR3C2 polymorphisms influencing intelligence: family-based association studies, Prog Neuropsychopharmacol Biol Psychiatry, vol.35, pp.154-160, 2011.

L. A. Penny, M. Dell'aquila, M. C. Jones, J. Bergoffen, C. Cunniff et al., Clinical and molecular characterization of patients with distal 11q deletions, Am J Hum Genet, vol.56, pp.676-683, 1995.

D. Pinto, E. Delaby, D. Merico, M. Barbosa, A. Merikangas et al.,

H. Engeland, A. Tryfon, S. Thomson, L. Soorya, B. Roge et al., Convergence of genes and cellular pathways dysregulated in autism spectrum disorders, vol.94, pp.677-694, 2014.
URL : https://hal.archives-ouvertes.fr/inserm-00986225

D. Pinto, A. T. Pagnamenta, L. Klei, R. Anney, D. Merico et al.,

M. Jonge, R. Delorme, I. Drmic, E. Duketis, F. Duque et al., Functional impact of global rare copy number variation in autism spectrum disorders, vol.466, pp.368-372, 2010.
URL : https://hal.archives-ouvertes.fr/inserm-00521387

S. J. Sanders, A. G. Ercan-sencicek, V. Hus, R. Luo, M. T. Murtha et al.,

. Al, R. M. Cantor, M. Curland, D. E. Grice, M. Gunel et al., Multiple recurrent de novo, 2011.

. Cnvs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism, Neuron, vol.70, pp.863-885

S. J. Sanders, M. T. Murtha, A. R. Gupta, J. D. Murdoch, M. J. Raubeson et al., De novo mutations revealed by whole-exome sequencing are strongly associated with autism, Nature, vol.485, pp.237-241, 2012.

G. C. Sellar, K. P. Watt, G. J. Rabiasz, E. A. Stronach, L. Li et al., OPCML at 11q25 is epigenetically inactivated and has tumor-suppressor function in epithelial ovarian cancer, Nat Genet, vol.34, pp.337-343, 2003.

S. M. Smith, M. Jenkinson, M. W. Woolrich, C. F. Beckmann, T. E. Behrens et al., Advances in functional and structural MR image analysis and implementation as FSL, Neuroimage, vol.23, pp.208-219, 2004.
DOI : 10.1016/j.neuroimage.2004.07.051
URL : http://www.fmrib.ox.ac.uk/analysis/techrep/tr04ss2/tr04ss2.pdf

M. W. State and P. Levitt, The conundrums of understanding genetic risks for autism spectrum disorders, Nat Neurosci, 2011.

C. Sugimoto, S. Morita, and S. Miyata, Overexpression of IgLON cell adhesion molecules changes proliferation and cell size of cortical astrocytes, Cell Biochem Funct, 2012.

R. Toro, M. Chupin, L. Garnero, G. Leonard, M. Perron et al., Brain volumes and Val66Met polymorphism of the BDNF gene: local or global effects?, Brain Struct Funct, vol.213, pp.501-509, 2009.
URL : https://hal.archives-ouvertes.fr/hal-00805413

R. Toro, M. Konyukh, R. Delorme, C. Leblond, P. Chaste et al., Key role for gene dosage and synaptic homeostasis in autism spectrum disorders, Trends Genet, vol.26, pp.363-372, 2010.
DOI : 10.1016/j.tig.2010.05.007
URL : https://hal.archives-ouvertes.fr/pasteur-01967134

C. Tyson, Y. Qiao, C. Harvard, X. Liu, F. P. Bernier et al., Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by highresolution array-CGH, Mol Cytogenet, vol.1, p.23, 2008.

V. S. Vervoort, D. Viljoen, R. Smart, G. Suthers, B. R. Dupont et al., Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotype, J Med Genet, vol.39, pp.893-899, 2002.
DOI : 10.1136/jmg.39.12.893
URL : https://jmg.bmj.com/content/39/12/893.full.pdf

J. A. Vorstman, W. G. Staal, E. Van-daalen, H. Van-engeland, P. F. Hochstenbach et al., Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism, Mol Psychiatry, vol.11, issue.1, pp.18-28, 2006.

Y. Zhang, M. Brady, and S. Smith, Segmentation of brain MR images through a hidden Markov random field model and the expectation-maximization algorithm, IEEE Trans Med Imaging, vol.20, pp.45-57, 2001.

L. Zhong, T. Cherry, C. E. Bies, M. A. Florence, and N. Z. Gerges, Neurogranin enhances synaptic strength through its interaction with calmodulin, EMBO J, vol.28, pp.3027-3039, 2009.
DOI : 10.1038/emboj.2009.236
URL : http://emboj.embopress.org/content/28/19/3027.full.pdf

B. A. Zielinski, M. B. Prigge, J. A. Nielsen, A. L. Froehlich, T. J. Abildskov et al., Longitudinal changes in cortical thickness in autism and typical development, Brain, vol.137, pp.1799-1812, 2014.
DOI : 10.1093/brain/awu083
URL : https://academic.oup.com/brain/article-pdf/137/6/1799/13798018/awu083.pdf