Advances in autism genetics: on the threshold of a new neurobiology, Nature Reviews Genetics, vol.9, issue.5, pp.341-355, 2008. ,
DOI : 10.1038/nrg2346
A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders, Molecular Psychiatry, vol.51, issue.3, pp.238-239, 2011. ,
DOI : 10.1056/NEJMoa0805384
A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD), Am J Med Genet A, vol.146, pp.505-511, 2008. ,
Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2, Clinical Genetics, vol.359, issue.2, pp.162-168, 2010. ,
DOI : 10.1111/j.1399-0004.2010.01373.x
Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion), Journal of Autism and Developmental Disorders, vol.23, issue.2???3, pp.1776-1786, 2007. ,
DOI : 10.1007/s10803-006-0308-6
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders, Human Mutation, vol.268, issue.8, pp.992-1006, 2008. ,
DOI : 10.1002/humu.20748
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients, Journal of Medical Genetics, vol.43, issue.9, pp.729-734, 2006. ,
DOI : 10.1136/jmg.2006.041467
Brief report: autism and Aarskog syndrome Recurrent 10q22-?q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities, Journal of Autism and Developmental Disorders, vol.29, issue.2, pp.179-181, 1999. ,
DOI : 10.1023/A:1023005029949
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication, Molecular Cytogenetics, vol.1, issue.1, 2008. ,
DOI : 10.1186/1755-8166-1-8
Behavioural phenotype of Bardet-Biedl syndrome, Journal of Medical Genetics, vol.39, issue.12, p.76, 2002. ,
DOI : 10.1136/jmg.39.12.e76
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree, Molecular Genetics and Metabolism, vol.77, issue.4, pp.326-331, 2002. ,
DOI : 10.1016/S1096-7192(02)00175-0
A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions, Clinical Dysmorphology, vol.15, issue.3, pp.145-148, 2006. ,
DOI : 10.1097/01.mcd.0000198934.55071.ee
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders, Journal of Medical Genetics, vol.46, issue.6, pp.382-388, 2009. ,
DOI : 10.1136/jmg.2008.064378
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
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
The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders, Trends in Neurosciences, vol.32, issue.7, pp.402-412, 2009. ,
DOI : 10.1016/j.tins.2009.04.003
URL : https://hal.archives-ouvertes.fr/inserm-00401195
Association of Autistic Spectrum Disorders With Dystrophinopathies, Pediatric Neurology, vol.41, issue.5, pp.339-346, 2009. ,
DOI : 10.1016/j.pediatrneurol.2009.05.011
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13, Neurobiology of Disease, vol.38, issue.2, pp.181-191, 2010. ,
DOI : 10.1016/j.nbd.2008.08.011
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome, The American Journal of Human Genetics, vol.90, issue.2, pp.308-313, 2012. ,
DOI : 10.1016/j.ajhg.2011.12.001
Behavioural characteristics and autistic features in individuals with Cohen Syndrome, European Child & Adolescent Psychiatry, vol.Antonio, issue.2, pp.57-64, 2005. ,
DOI : 10.1007/s00787-005-0416-4
Epilepsy and mental retardation limited to females with PCDH19 mutations can, 2010. ,