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

D. Pinto, E. Delaby, and D. Merico, Convergence of genes and cellular pathways dysregulated in autism spectrum disorders, Am J Hum Genet, 2014.
URL : https://hal.archives-ouvertes.fr/inserm-00986225

, , vol.94, pp.677-694

D. Pinto, A. T. Pagnamenta, and L. Klei, Functional impact of global rare copy number variation in autism spectrum disorders, Nature, vol.466, issue.7304, pp.368-372, 2010.
URL : https://hal.archives-ouvertes.fr/inserm-00521387

C. Betancur, Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting, Brain Res, 2011.
URL : https://hal.archives-ouvertes.fr/inserm-00549873

M. Sakai, Y. Watanabe, and T. Someya, Assessment of copy number variations in the brain genome of schizophrenia patients, Mol Cytogenet, vol.8, issue.1, p.46, 2015.

J. P. Szatkiewicz, C. O'dushlaine, and G. Chen, Copy number variation in schizophrenia in Sweden

, Mol Psychiatry, vol.19, issue.7, pp.762-773, 2014.

G. M. Cooper, B. P. Coe, and S. Girirajan, A copy number variation morbidity map of developmental delay, Nat Genet, vol.43, issue.9, pp.838-846, 2011.

B. P. Coe, K. Witherspoon, and J. A. Rosenfeld, Refining analyses of copy number variation identifies specific genes associated with developmental delay, Nat Genet, vol.46, issue.10, pp.1063-1071, 2014.

A. M. Maillard, A. Ruef, and F. Pizzagalli, , vol.16

E. Consortium, The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity, Mol Psychiatry, vol.20, issue.1, pp.140-147, 2015.

H. M. Kearney, E. C. Thorland, K. K. Brown, F. Quintero-rivera, and S. T. South, Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants, Genet Med, vol.13, issue.7, pp.680-685, 2011.

D. T. Miller, M. P. Adam, and S. Aradhya, Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, Am J Hum Genet, vol.86, issue.5, pp.749-764, 2010.

S. J. Sanders, X. He, and A. J. Willsey, Autism Sequencing Consortium. Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci, Neuron, vol.87, issue.6, pp.1215-1233, 2015.

H. Stefansson, A. Meyer-lindenberg, and S. Steinberg, CNVs conferring risk of autism or schizophrenia affect cognition in controls, Nature, vol.505, issue.7483, pp.361-366, 2014.

K. M. Kendall, E. Rees, and V. Escott-price, Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects, Biol Psychiatry, vol.82, issue.2, p.28663, 2016.

K. Männik, R. Mägi, and A. Macé, Copy number variations and cognitive phenotypes in unselected populations, JAMA, vol.313, issue.20, pp.2044-2054, 2015.

G. Schumann, E. Loth, and T. Banaschewski,

Z. Pausova, T. Paus, and M. Abrahamowicz, Test review: Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV), IMAGEN consortium. The IMAGEN study: reinforcement-related behaviour in normal brain function and psychopathology, vol.15, pp.278-295, 2006.

G. L. Canivez and M. W. Watkins, Long-term stability of the Wechsler Intelligence Scale for Children-Third Edition among demographic subgroups: gender, race/ethnicity, and age, J Psychoed Assess, vol.17, issue.4, pp.300-313, 1999.

S. J. Sanders, A. G. Ercan-sencicek, and V. Hus, Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11, vol.23

. Williams-beuren, syndrome region, are strongly associated with autism, Neuron, vol.70, issue.5, pp.863-885, 2011.

S. Purcell, N. B. Todd-brown, and K. , PLINK: a tool set for whole-genome association and population-based linkage analyses, Am J Hum Genet, vol.81, issue.3, pp.559-575, 2007.

J. A. Kosmicki, K. E. Samocha, and D. P. Howrigan, Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples, Nat Genet, vol.49, issue.4, pp.504-510, 2017.

S. E. Prasad, S. Howley, and K. C. Murphy, Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome, Dev Disabil Res Rev, vol.14, issue.1, pp.26-34, 2008.

T. Sakurai, N. P. Dorr, N. Takahashi, L. A. Mcinnes, G. A. Elder et al., Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions, Autism Res, vol.4, issue.1, pp.28-39, 2011.

S. Girirajan, C. N. Vlangos, and B. B. Szomju, Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum, Genet Med, vol.8, issue.7, pp.417-427, 2006.

J. F. Mcrae, S. Clayton, and T. W. Fitzgerald,

, Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders, Nature, vol.542, issue.7642, pp.433-438, 2017.

E. Rees, K. Kendall, and A. F. Pardiñas, Analysis of intellectual disability copy number variants for association with schizophrenia, JAMA Psychiatry, vol.73, issue.9, pp.963-969, 2016.

D. Malhotra and J. Sebat, CNVs: harbingers of a rare variant revolution in psychiatric genetics, Cell, 2012.

, , vol.148, pp.1223-1241

C. R. Marshall, D. P. Howrigan, and D. Merico,

, Psychosis Endophenotypes International Consortium; CNV and Schizophrenia Working Groups of the Psychiatric Genomics Consortium. Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects, Nat Genet, vol.49, issue.1, pp.27-35, 2017.