, Pagnamenta 2 , Lambertus Klei 3 , Richard Anney 4
, Barbara Parrini 14 , Tara Paton 1 , Andrew Pickles 57 , Marion Pilorge 58 , Joseph Piven 59 , Chris P. Ponting 60 Annemarie Poustka 38 ?, Fritz Poustka 16 , Aparna Prasad 1, Jessica Rickaby Olaf Stein, vol.156, issue.12 1 2 48 3
, Wijsman 71* , Stephen W. Scherer 1,72* , James S. Sutcliffe 22* & Catalina Betancur 58* Supplementary Table 13. List of gene-sets enriched for deletions Data provided separately, as an Excel workbook file, p.71
, 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
, 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
, 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, issue.3, pp.205-223, 2000.
DOI : 10.1037/t17256-000
, Combining Information From Multiple Sources in the Diagnosis of Autism Spectrum Disorders, Journal of the American Academy of Child & Adolescent Psychiatry, vol.45, issue.9, pp.1094-1103, 2006.
DOI : 10.1097/01.chi.0000227880.42780.0e
, A genome-wide association study of alcohol dependence, Proceedings of the National Academy of Sciences, vol.107, issue.11, 2010.
DOI : 10.1073/pnas.0911109107
, Kinesin Family Member 6 Variant Trp719Arg Does Not Associate With Angiographically Defined Coronary Artery Disease in the Ottawa Heart Genomics Study, Journal of the American College of Cardiology, vol.53, issue.16, pp.1471-1472, 2009.
DOI : 10.1016/j.jacc.2008.12.051
, Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs, Nature Genetics, vol.39, issue.10, pp.1253-1260, 2008.
DOI : 10.1056/NEJMoa075974
, iPattern: a cross-sample copy number variation discovery method for multiple array platforms, 2010.
, PopGen: Population-Based Recruitment of Patients and Controls for the Analysis of Complex Genotype-Phenotype Relationships, Public Health Genomics, vol.9, issue.1, pp.55-61, 2006.
DOI : 10.1159/000090694
, High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications, Genome Research, vol.19, issue.9, pp.1682-1690, 2009.
DOI : 10.1101/gr.083501.108
, High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping, Genome Research, vol.16, issue.9, pp.1136-1148, 2006.
DOI : 10.1101/gr.5402306
, A genome-wide scan for common variants affecting risk for autism, 2010.
, Discovering genetic ancestry using spectral graph theory, Genetic Epidemiology, vol.24, issue.1, pp.51-59, 2010.
DOI : 10.1371/journal.pgen.0020190
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610359
, QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data, Nucleic Acids Research, vol.35, issue.6, pp.2013-2025, 2007.
DOI : 10.1093/nar/gkm076
, PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data, Genome Research, vol.17, issue.11, pp.1665-1674, 2007.
DOI : 10.1101/gr.6861907
, Global variation in copy number in the human genome, Nature, vol.38, issue.7118, pp.444-454, 2006.
DOI : 10.1126/science.1117196
, Copy-number variation in control population cohorts, Human Molecular Genetics, vol.16, issue.R2, pp.168-173, 2007.
DOI : 10.1093/hmg/ddm241
, Origins and functional impact of copy number variation in the human genome, Nature, vol.36, issue.7289, 2009.
DOI : 10.1038/nature08516
, Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls, Nature Accepted, 2010.
, qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data, Genome Biology, vol.8, issue.2, p.19, 2007.
DOI : 10.1186/gb-2007-8-2-r19
, 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
, Autism genome-wide copy number variation reveals ubiquitin and neuronal genes, Nature, vol.8, issue.7246, pp.569-573, 2009.
DOI : 10.1038/nature07953
, Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes, PLoS Genetics, vol.4, issue.6, p.1000536, 2009.
DOI : 10.1371/journal.pgen.1000536.s007
, Association between Microdeletion and Microduplication at 16p11.2 and Autism, New England Journal of Medicine, vol.358, issue.7, pp.667-675, 2008.
DOI : 10.1056/NEJMoa075974
, PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses, The American Journal of Human Genetics, vol.81, issue.3, pp.559-575, 2007.
DOI : 10.1086/519795
, Mutations in the calcium-related gene IL1RAPL1 are associated with autism, Human Molecular Genetics, vol.17, issue.24, pp.3965-3974, 2008.
DOI : 10.1093/hmg/ddn300
, Neuropsychiatric Disorders in Males With Duchenne Muscular Dystrophy: Frequency Rate of Attention-Deficit Hyperactivity Disorder (ADHD), Autism Spectrum Disorder, and Obsessive--Compulsive Disorder, Journal of Child Neurology, vol.23, issue.5, pp.477-481, 2008.
DOI : 10.1177/0883073807309775
, Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles, Proceedings of the National Academy of Sciences, vol.102, issue.43, pp.15545-15550, 2005.
DOI : 10.1073/pnas.0506580102
, Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing, Journal of the Royal Statistical Society. Series B (Methodological), vol.51, issue.1, pp.289-300, 1995.
, Statistical significance for genomewide studies, Proceedings of the National Academy of Sciences, vol.100, issue.16, pp.9440-9445, 2003.
DOI : 10.1073/pnas.1530509100
, The positive false discovery rate: a Bayesian interpretation and the q -value, The Annals of Statistics, vol.31, issue.6, pp.2013-2035, 2003.
DOI : 10.1214/aos/1074290335
, Gene-set analysis and reduction, Briefings in Bioinformatics, vol.10, issue.1, pp.24-34, 2009.
DOI : 10.1093/bib/bbn042
URL : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638622
, Integration of biological networks and gene expression data using Cytoscape, Nature Protocols, vol.31, issue.10, pp.2366-2382, 2007.
DOI : 10.1038/nprot.2007.324
, Pathway analysis of dilated cardiomyopathy using global proteomic profiling and enrichment maps, Proteomics, 2010.
, Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation, PLoS ONE, vol.5, issue.11, 2010.
DOI : 10.1371/journal.pone.0013984.s005
, How to visually interpret biological data using networks, Nature Biotechnology, vol.9, issue.10, pp.921-924, 2009.
DOI : 10.1126/science.1087447
, Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis, Bioinformatics, vol.23, issue.22, pp.3024-3031, 2007.
DOI : 10.1093/bioinformatics/btm440
, Using GOstats to test gene lists for GO term association, Bioinformatics, vol.23, issue.2, pp.257-258, 2007.
DOI : 10.1093/bioinformatics/btl567
, Rho GTPases, dendritic structure, and mental retardation, Journal of Neurobiology, vol.44, issue.1, pp.58-74, 2005.
DOI : 10.1002/neu.20153
, Origins and functional impact of copy number variation in the human genome, Nature, vol.36, issue.7289, pp.704-712, 2010.
DOI : 10.1038/nature08516
, Detection of large-scale variation in the human genome, Nature Genetics, vol.10, issue.9, pp.949-951, 2004.
DOI : 10.1038/ng1307