D. Geschwind, Advances in Autism, Annual Review of Medicine, vol.60, issue.1, pp.367-380, 2009.
DOI : 10.1146/annurev.med.60.053107.121225

G. Huguet, E. Ey, and T. Bourgeron, The Genetic Landscapes of Autism Spectrum Disorders, Annual Review of Genomics and Human Genetics, vol.14, issue.1, pp.191-213, 2013.
DOI : 10.1146/annurev-genom-091212-153431
URL : https://hal.archives-ouvertes.fr/pasteur-01470293

C. Betancur, Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting, Brain Research, vol.1380, pp.42-77, 2011.
DOI : 10.1016/j.brainres.2010.11.078
URL : https://hal.archives-ouvertes.fr/inserm-00549873

R. Toro, M. Konyukh, R. Delorme, C. Leblond, and P. Chaste, Key role for gene dosage and synaptic homeostasis in autism spectrum disorders, Trends in Genetics, vol.26, issue.8, pp.363-372, 2010.
DOI : 10.1016/j.tig.2010.05.007

S. Jamain, H. Quach, C. Betancur, M. Rastam, and C. Colineaux, Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism, Nature Genetics, vol.34, issue.1, pp.27-29, 2003.
DOI : 10.1038/ng1136
URL : https://hal.archives-ouvertes.fr/inserm-00124744

C. Durand, C. Betancur, T. Boeckers, J. Bockmann, and P. Chaste, Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders, Nature Genetics, vol.28, issue.1, pp.25-27, 2007.
DOI : 10.1038/ng1933
URL : https://hal.archives-ouvertes.fr/inserm-00126175

P. Szatmari, A. Paterson, L. Zwaigenbaum, W. Roberts, and J. Brian, Mapping autism risk loci using genetic linkage and chromosomal rearrangements, Nature Genetics, vol.57, issue.3, pp.319-328, 2007.
DOI : 10.1086/503920
URL : https://hal.archives-ouvertes.fr/inserm-00937094

D. Pinto, A. Pagnamenta, L. Klei, R. Anney, and D. Merico, Functional impact of global rare copy number variation in autism spectrum disorders, Nature, vol.81, issue.7304, pp.368-372, 2010.
DOI : 10.1038/nature09146
URL : https://hal.archives-ouvertes.fr/inserm-00521387

S. Sanders, A. Ercan-sencicek, V. Hus, R. Luo, and M. Murtha, Multiple recurrent de novo CNVs, including duplications of the 7q11, 2011.

G. Cooper, B. Coe, S. Girirajan, J. Rosenfeld, and T. Vu, A copy number variation morbidity map of developmental delay, Nature Genetics, vol.455, issue.9, pp.838-846, 2011.
DOI : 10.1038/nature05329

T. Sudhof, Neuroligins and neurexins link synaptic function to cognitive disease, Nature, vol.27, issue.7215, pp.903-911, 2008.
DOI : 10.1038/nature07456

A. Grabrucker, M. Schmeisser, M. Schoen, and T. Boeckers, Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies, Trends in Cell Biology, vol.21, issue.10, pp.594-603, 2011.
DOI : 10.1016/j.tcb.2011.07.003

R. Moessner, C. Marshall, J. Sutcliffe, J. Skaug, and D. Pinto, Contribution of SHANK3 Mutations to Autism Spectrum Disorder, The American Journal of Human Genetics, vol.81, issue.6, pp.1289-1297, 2007.
DOI : 10.1086/522590

S. Berkel, C. Marshall, B. Weiss, J. Howe, and R. Roeth, Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation, Nature Genetics, vol.19, issue.6, pp.489-491, 2010.
DOI : 10.1016/j.cell.2009.01.050

K. Phelan and H. Mcdermid, The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome), Molecular Syndromology, vol.2, pp.186-201, 2012.
DOI : 10.1159/000334260

J. Gauthier, D. Spiegelman, A. Piton, R. Lafreniere, and S. Laurent, Novel de novo SHANK3 mutation in autistic patients, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol.40, issue.8, pp.421-424, 2009.
DOI : 10.1002/ajmg.b.30822

L. Boccuto, M. Lauri, S. Sarasua, C. Skinner, and D. Buccella, Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders, European Journal of Human Genetics, vol.17, issue.3, pp.310-316, 2012.
DOI : 10.1038/ejhg.2012.175

C. Leblond, J. Heinrich, R. Delorme, C. Proepper, and C. Betancur, Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders, PLoS Genetics, vol.92, issue.Pt 11, p.1002521, 2012.
DOI : 10.1371/journal.pgen.1002521.s016
URL : https://hal.archives-ouvertes.fr/inserm-00834560

D. Sato, A. Lionel, C. Leblond, A. Prasad, and D. Pinto, SHANK1 Deletions in Males with Autism Spectrum Disorder, The American Journal of Human Genetics, vol.90, issue.5, pp.879-887, 2012.
DOI : 10.1016/j.ajhg.2012.03.017

L. Soorya, A. Kolevzon, J. Zweifach, T. Lim, and Y. Dobry, Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency, Molecular Autism, vol.4, issue.1, p.18, 2013.
DOI : 10.1136/jmg.40.8.575
URL : https://hal.archives-ouvertes.fr/inserm-00843238

M. Bonaglia, R. Giorda, S. Beri, D. Agostini, C. Novara et al., Molecular Mechanisms Generating and Stabilizing Terminal 22q13 Deletions in 44 Subjects with Phelan/McDermid Syndrome, PLoS Genetics, vol.42, issue.7, p.1002173, 2011.
DOI : 10.1371/journal.pgen.1002173.s009

C. Betancur and J. Buxbaum, SHANK3 haploinsufficiency: a ???common??? but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders, Molecular Autism, vol.4, issue.1, p.17, 2013.
DOI : 10.1038/ejhg.2012.175
URL : https://hal.archives-ouvertes.fr/inserm-00839363

Y. Jiang and M. Ehlers, Modeling Autism by SHANK Gene Mutations in Mice, Neuron, vol.78, issue.1, pp.8-27, 2013.
DOI : 10.1016/j.neuron.2013.03.016

A. Hung, K. Futai, C. Sala, J. Valtschanoff, and J. Ryu, Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1, Journal of Neuroscience, vol.28, issue.7, pp.1697-1708, 2008.
DOI : 10.1523/JNEUROSCI.3032-07.2008

M. Wohr, F. Roullet, A. Hung, M. Sheng, and J. Crawley, Communication Impairments in Mice Lacking Shank1: Reduced Levels of Ultrasonic Vocalizations and Scent Marking Behavior, PLoS ONE, vol.472, issue.2, p.20631, 2011.
DOI : 10.1371/journal.pone.0020631.t002

M. Schmeisser, E. Ey, S. Wegener, J. Bockmann, and A. Stempel, Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2, Nature, vol.10, pp.256-260, 2012.
DOI : 10.1038/nature11015
URL : https://hal.archives-ouvertes.fr/pasteur-01470252

H. Won, H. Lee, H. Gee, W. Mah, and J. Kim, Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function, Nature, vol.19, issue.7402, pp.261-265, 2012.
DOI : 10.1038/nature11208

J. Peca, C. Feliciano, J. Ting, W. Wang, and M. Wells, Shank3 mutant mice display autistic-like behaviours and striatal dysfunction, Nature, vol.90, issue.7344, pp.437-442, 2011.
DOI : 10.1038/nature09965

M. Yang, O. Bozdagi, M. Scattoni, M. Woehr, and F. Roullet, Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice, Journal of Neuroscience, vol.32, issue.19, pp.6525-6541, 2012.
DOI : 10.1523/JNEUROSCI.6107-11.2012

X. Wang, P. Mccoy, R. Rodriguiz, Y. Pan, and H. Je, Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3, Human Molecular Genetics, vol.20, issue.15, pp.3093-3108, 2011.
DOI : 10.1093/hmg/ddr212

C. Schluth-bolard, A. Labalme, M. Cordier, M. Till, and G. Nadeau, Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations, Journal of Medical Genetics, vol.50, issue.3, pp.144-150, 2013.
DOI : 10.1136/jmedgenet-2012-101351

S. Sanders, M. Murtha, A. Gupta, J. Murdoch, and M. Raubeson, De novo mutations revealed by whole-exome sequencing are strongly associated with autism, Nature, vol.478, issue.7397, pp.237-241, 2012.
DOI : 10.1038/nature10945

A. Wischmeijer, P. Magini, R. Giorda, M. Gnoli, and R. Ciccone, Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype, Molecular Syndromology, vol.1, issue.4, pp.176-184, 2011.
DOI : 10.1159/000322054

J. Glessner, K. Wang, G. Cai, O. Korvatska, and C. Kim, Autism genome-wide copy number variation reveals ubiquitin and neuronal genes, Nature, vol.8, issue.7246, pp.569-573, 2009.
DOI : 10.1038/nature07953
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925224

C. Schaaf, A. Sabo, Y. Sakai, J. Crosby, and D. Muzny, Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders, Human Molecular Genetics, vol.20, issue.17, pp.3366-3375, 2011.
DOI : 10.1093/hmg/ddr243

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

B. Neale, Y. Kou, L. Liu, A. Ma-'ayan, and K. Samocha, Patterns and rates of exonic de novo mutations in autism spectrum disorders, Nature, vol.7, issue.7397, pp.242-245, 2012.
DOI : 10.1038/nature11011
URL : https://hal.archives-ouvertes.fr/inserm-00939274

N. Krumm, O. Roak, B. Shendure, J. Eichler, and E. , A de novo convergence of autism genetics and molecular neuroscience, Trends in Neurosciences, vol.37, issue.2, pp.95-105, 2014.
DOI : 10.1016/j.tins.2013.11.005

A. Guilmatre, G. Huguet, R. Delorme, and T. Bourgeron, genes in neuropsychiatric disorders, Developmental Neurobiology, vol.32, issue.Part 1, pp.113-135, 2013.
DOI : 10.1002/dneu.22128

A. Shcheglovitov, O. Shcheglovitova, M. Yazawa, T. Portmann, and R. Shu, SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients, Nature, vol.27, pp.267-271, 2013.
DOI : 10.1038/nature12618

R. Delorme, E. Ey, R. Toro, M. Leboyer, and C. Gillberg, Progress toward treatments for synaptic defects in autism, Nature Medicine, vol.232, issue.6, pp.685-694, 2013.
DOI : 10.1016/j.resp.2007.08.009
URL : https://hal.archives-ouvertes.fr/pasteur-01470299

C. Durand, J. Perroy, F. Loll, D. Perrais, and L. Fagni, SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism, Molecular Psychiatry, vol.455, issue.1, pp.71-84, 2011.
DOI : 10.1038/mp.2011.57
URL : https://hal.archives-ouvertes.fr/hal-00644264

M. Arons, C. Thynne, A. Grabrucker, D. Li, and M. Schoen, Autism-Associated Mutations in ProSAP2/Shank3 Impair Synaptic Transmission and Neurexin-Neuroligin-Mediated Transsynaptic Signaling, Journal of Neuroscience, vol.32, issue.43, pp.14966-14978, 2012.
DOI : 10.1523/JNEUROSCI.2215-12.2012

S. Berkel, W. Tang, M. Trevino, M. Vogt, and H. Obenhaus, Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology, Human Molecular Genetics, vol.21, issue.2, pp.344-357, 2011.
DOI : 10.1093/hmg/ddr470
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276277

A. Denayer, H. Van-esch, T. De-ravel, J. Frijns, V. Buggenhout et al., Neuropsychopathology in 7 Patients with the 22q13 Deletion Syndrome: Presence of Bipolar Disorder and Progressive Loss of Skills, Molecular Syndromology, vol.3, pp.14-20, 2012.
DOI : 10.1159/000339119

B. Chilian, H. Abdollahpour, T. Bierhals, I. Haltrich, and G. Fekete, in a patient with intellectual disability and language impairment supports genetic epistasis of the two loci, Clinical Genetics, vol.390, issue.2, pp.560-565, 2013.
DOI : 10.1111/cge.12105

J. Gauthier, N. Champagne, R. Lafreniere, L. Xiong, and D. Spiegelman, in patients ascertained for schizophrenia, Proceedings of the National Academy of Sciences, vol.107, issue.17, pp.7863-7868, 2010.
DOI : 10.1073/pnas.0906232107

C. Lord, M. Rutter, L. Couteur, and A. , Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders, Journal of Autism and Developmental Disorders, vol.93, issue.5, pp.659-685, 1994.
DOI : 10.1007/BF02172145

C. Lord, S. Risi, L. Lambrecht, E. Cook, J. Leventhal et al., The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism, J Autism Dev Disord, vol.30, pp.205-223, 2000.
DOI : 10.1037/t17256-000

L. Wing, S. Leekam, S. Libby, J. Gould, and M. Larcombe, The Diagnostic Interview for Social and Communication Disorders: background, inter-rater reliability and clinical use, Journal of Child Psychology and Psychiatry, vol.1, issue.3, pp.307-325, 2002.
DOI : 10.1192/bjp.176.4.357

J. Sebat, B. Lakshmi, D. Malhotra, J. Troge, and C. Lese-martin, Strong Association of De Novo Copy Number Mutations with Autism, Science, vol.316, issue.5823, pp.445-449, 2007.
DOI : 10.1126/science.1138659

C. Marshall, A. Noor, J. Vincent, A. Lionel, and L. Feuk, Structural Variation of Chromosomes in Autism Spectrum Disorder, The American Journal of Human Genetics, vol.82, issue.2, pp.477-488, 2008.
DOI : 10.1016/j.ajhg.2007.12.009

A. Bremer, M. Giacobini, M. Nordenskjold, K. Brondum-nielsen, and M. Mansouri, Screening for copy number alterations in loci associated with autism spectrum disorders by two-color multiplex ligation-dependent probe amplification, American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol.24, issue.1, pp.280-285, 2009.
DOI : 10.1002/ajmg.b.30954

C. Clopper and E. Pearson, THE USE OF CONFIDENCE OR FIDUCIAL LIMITS ILLUSTRATED IN THE CASE OF THE BINOMIAL, Biometrika, vol.26, issue.4, pp.404-413, 1934.
DOI : 10.1093/biomet/26.4.404

J. Higgins, S. Thompson, J. Deeks, and D. Altman, Measuring inconsistency in meta-analyses, BMJ, vol.327, issue.7414, pp.557-560, 2003.
DOI : 10.1136/bmj.327.7414.557

J. Friedrich, N. Adhikari, and J. Beyene, Inclusion of zero total event trials in meta-analyses maintains analytic consistency and incorporates all available data, BMC Medical Research Methodology, vol.26, issue.11, p.5, 2007.
DOI : 10.1002/sim.2528

P. Lane, Meta-analysis of incidence of rare events, Statistical Methods in Medical Research, vol.57, issue.14, pp.117-132, 2013.
DOI : 10.1002/0470854200