The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome), Molecular Syndromology, vol.2, pp.186-201, 2012. ,
DOI : 10.1159/000334260
Refining analyses of copy number variation identifies specific genes associated with developmental delay, Nature Genetics, vol.57, issue.10, pp.1063-1071, 2014. ,
DOI : 10.1038/gim.2012.164
A copy number variation morbidity map of developmental delay, Nature Genetics, vol.455, issue.9, pp.838-884, 2011. ,
DOI : 10.1038/nature05329
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
genes in neuropsychiatric disorders, Developmental Neurobiology, vol.32, issue.Part 1, pp.113-122, 2014. ,
DOI : 10.1523/JNEUROSCI.6107-11.2012
URL : https://hal.archives-ouvertes.fr/pasteur-01579806
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments, PLoS Genetics, vol.22, issue.6, p.1004580, 2014. ,
DOI : 10.1371/journal.pgen.1004580.s019
URL : https://hal.archives-ouvertes.fr/inserm-01061498
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 : 10.1016/j.tins.2005.01.008
URL : https://hal.archives-ouvertes.fr/inserm-00126175
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome, American Journal of Medical Genetics Part A, vol.67, issue.7, pp.1666-1676, 2014. ,
DOI : 10.1074/jbc.M401563200
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development, European Journal of Human Genetics, vol.264, issue.11, pp.1301-1310, 2008. ,
DOI : 10.1038/ejhg.2008.107
URL : http://www.nature.com/ejhg/journal/v16/n11/pdf/ejhg2008107a.pdf
SHANK proteins: roles at the synapse and in autism spectrum disorder, Nature Reviews Neuroscience, vol.503, issue.3, pp.147-157, 2017. ,
DOI : 10.1523/JNEUROSCI.3125-14.2015
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
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction, Nature, vol.90, issue.7344, pp.437-442, 2011. ,
DOI : 10.1152/jn.00070.2003
SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients, Nature, vol.27, issue.7475, pp.267-271, 2013. ,
DOI : 10.1634/stemcells.2008-1075
URL : http://europepmc.org/articles/pmc5559273?pdf=render
Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons, Science, vol.89, issue.3, pp.1-22, 2016. ,
DOI : 10.1152/physrev.00029.2008
URL : http://europepmc.org/articles/pmc4901875?pdf=render
Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome, EBioMedicine, vol.9, pp.293-305, 2016. ,
DOI : 10.1016/j.ebiom.2016.05.032
URL : https://hal.archives-ouvertes.fr/hal-01326262
Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring, Journal of Neurodevelopmental Disorders, vol.6, issue.1, p.39, 2014. ,
DOI : 10.1186/2040-2392-4-17
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome), Journal of Medical Genetics, vol.48, issue.11, pp.761-766, 2011. ,
DOI : 10.1136/jmedgenet-2011-100225
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
22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay and physical features in Phelan???McDermid syndrome, Genetics in Medicine, vol.13, issue.4, pp.318-328, 2014. ,
DOI : 10.1101/gr.082701.108
Clinical and genomic evaluation of 201 patients with Phelan???McDermid syndrome, Human Genetics, vol.16, issue.11, pp.847-859, 2014. ,
DOI : 10.1038/ejhg.2008.107
22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH, American Journal of Medical Genetics Part A, vol.16, issue.3, pp.573-581, 2010. ,
DOI : 10.1002/ajmg.a.33253
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
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay, Nature Genetics, vol.316, issue.3, pp.203-209, 2010. ,
DOI : 10.1002/ajmg.a.30621
and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder, Journal of Medical Genetics, vol.23, issue.11, pp.737-747, 2014. ,
DOI : 10.1093/hmg/ddt568
TAFA: a novel secreted family with conserved cysteine residues and restricted expression in the brain, Genomics, vol.83, issue.4, pp.727-734, 2004. ,
DOI : 10.1016/j.ygeno.2003.10.006
Proline-Rich Synapse-Associated Proteins ProSAP1 and ProSAP2 Interact with Synaptic Proteins of the SAPAP/GKAP Family, Biochemical and Biophysical Research Communications, vol.264, issue.1, pp.247-252, 1999. ,
DOI : 10.1006/bbrc.1999.1489
Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood, PEDIATRICS, vol.122, issue.2, pp.376-382, 2008. ,
DOI : 10.1542/peds.2007-2584
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations, Orphanet Journal of Rare Diseases, vol.39, issue.7, p.105, 2015. ,
DOI : 10.1007/s10803-009-0704-9
URL : https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-015-0323-9?site=ojrd.biomedcentral.com
loss-of-function mutations, Epilepsia, vol.54, issue.10, pp.1651-1659, 2016. ,
DOI : 10.1002/ajmg.a.30780
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion, American Journal of Medical Genetics Part A, vol.40, issue.1, pp.131-136, 2013. ,
DOI : 10.1136/jmg.40.8.575
URL : http://europepmc.org/articles/pmc3733662?pdf=render
Neuropsychological phenotype and psychopathology in seven adult patients with Phelan-McDermid syndrome: implications for treatment strategy, Genes, Brain and Behavior, vol.24, issue.4, pp.395-404, 2016. ,
DOI : 10.1111/j.1601-5215.2011.00613.x
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark???Baraitser syndrome, Clinical Dysmorphology, vol.14, issue.3, pp.127-132, 2005. ,
DOI : 10.1097/00019605-200507000-00004
Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?, Neuropsychiatric Disease and Treatment, vol.8, pp.175-179, 2012. ,
DOI : 10.2147/NDT.S30506
URL : https://www.dovepress.com/getfile.php?fileID=12568
Further delineation of the 22q13 deletion syndrome, Clinical Dysmorphology, vol.14, issue.2, pp.55-60, 2005. ,
DOI : 10.1097/00019605-200504000-00001
PACSIN 3 is a novel SH3 domain cytoplasmic adapter protein of the pacsin-syndapin-FAP52 gene family, Gene, vol.262, issue.1-2, pp.199-205, 2001. ,
DOI : 10.1016/S0378-1119(00)00531-X
Activity Suppression Behavior Phenotype in SULT4A1 Frameshift Mutant Zebrafish, Drug Metabolism and Disposition, vol.43, issue.7, pp.1037-1044, 2015. ,
DOI : 10.1124/dmd.115.064485
URL : http://europepmc.org/articles/pmc4468436?pdf=render
Spinocerebellar ataxia type 10 ??? A review, Parkinsonism & Related Disorders, vol.17, issue.9, pp.655-661, 2011. ,
DOI : 10.1016/j.parkreldis.2011.04.001
Canonical Wnt Signaling Regulates Organ-Specific Assembly and Differentiation of CNS Vasculature, Science, vol.22, issue.7, pp.1247-1250, 2008. ,
DOI : 10.1080/01616412.2000.11740735
Wnt signaling through Dishevelled, Rac and JNK regulates dendritic development, Nature Neuroscience, vol.18, issue.1, pp.34-42, 2005. ,
DOI : 10.1016/j.ydbio.2003.06.003
Interaction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signaling, Human Molecular Genetics, vol.12, issue.2, pp.155-167, 2003. ,
DOI : 10.1093/hmg/ddg019
Association between Microdeletion and Microduplication at 16p11.2 and Autism, N. Engl. J. Med, vol.358, pp.2255-2265, 2014. ,
DOI : 10.1097/01.ogx.0000316305.61461.6f
URL : http://www.childrenshospital.org/bcrp/AutismNEJM_Walsh.pdf
Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder, Journal of Medical Genetics, vol.47, issue.3, pp.195-203, 2010. ,
DOI : 10.1136/jmg.2009.069369
From the genetic architecture to synaptic plasticity in autism spectrum disorder, Nature Reviews Neuroscience, vol.511, issue.9, pp.551-563, 2015. ,
DOI : 10.1016/j.cell.2004.09.011
URL : https://hal.archives-ouvertes.fr/hal-01576592
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome, Nature Genetics, vol.44, issue.6, pp.639-641, 2012. ,
DOI : 10.1242/jcs.060582
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype, Nature Genetics, vol.44, issue.6, pp.636-638, 2012. ,
DOI : 10.1136/jmg.40.8.575
NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series ??? further understanding of the relevance of NRXN1 to neurodevelopmental disorders, Journal of Molecular Psychiatry, vol.1, issue.1, p.4, 2013. ,
DOI : 10.1006/geno.2002.6734
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 : 10.1016/S0387-7604(12)80166-5
Autism diagnostic observation schedule (ADOS), Journal of Autism and Developmental Disorders, vol.30, issue.3, pp.205-223, 2000. ,
DOI : 10.1023/A:1005592401947
Whole-genome sequencing of quartet families with autism spectrum disorder, Nature Medicine, vol.110, issue.2, pp.185-191, 2015. ,
DOI : 10.1073/pnas.1302575110
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci, Neuron, vol.87, issue.6, pp.1215-1233, 2015. ,
DOI : 10.1016/j.neuron.2015.09.016
URL : https://doi.org/10.1016/j.neuron.2015.09.016
A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders, JAMA Psychiatry, vol.73, issue.3, pp.1-9, 2016. ,
DOI : 10.1001/jamapsychiatry.2015.2692
Characterising and Predicting Haploinsufficiency in the Human Genome, PLoS Genetics, vol.16, issue.10, p.1001154, 2010. ,
DOI : 10.1371/journal.pgen.1001154.s021
Refining the role of de novo protein truncating variants in neurodevelopmental disorders using polpulation reference samples. bioRxiv. https://doi.org/10, p.52886, 1101. ,