Functional impact of global rare copy number variation in autism spectrum disorders.
paper
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Public
- Authors
- Pinto, Dalila; Pagnamenta, Alistair T; Klei, Lambertus; Anney, Richard; Merico, Daniele; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Almeida, Joana; Bacchelli, Elena; Bader, Gary D; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Bryson, Susan E; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chung, Brian H Y; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Cytrynbaum, Cheryl; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher; Glessner, Joseph T; Goldberg, Jeremy; Green, Andrew; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Pilorge, Marion; Piven, Joseph; Ponting, Chris P; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Sequeira, Ana F; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stein, Olaf; Sykes, Nuala; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Webber, Caleb; Weksberg, Rosanna; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Wu, Jing; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Devlin, Bernie; Ennis, Sean; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Hallmayer, Joachim; Miller, Judith; Monaco, Anthony P; Nurnberger, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Scherer, Stephen W; Sutcliffe, James S; Betancur, Catalina
- Year
- 2010
- Journal
- Nature
- PMID
- 20531469
- DOI
- 10.1038/nature09146
- PMCID
- PMC3021798
The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
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| Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders. | Hu Z et al. | — | 2019 | → |
| Genetic mechanisms of regression in autism spectrum disorder. | Tammimies K | — | 2019 | → |
| Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease. | Frenkel S et al. | — | 2019 | → |
| Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts. | Zhang X et al. | — | 2019 | → |
| Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population. | Frenkel S et al. | — | 2019 | → |
| Genome-wide detection of copy number variations in polled yak using the Illumina BovineHD BeadChip. | Jia C et al. | — | 2019 | → |
| Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. | Egolf LE et al. | — | 2019 | → |
| Getting to the Cores of Autism. | Iakoucheva LM et al. | — | 2019 | → |
| Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders. | Bitar T et al. | — | 2019 | → |
| Identifying Genomic Variations in Monozygotic Twins Discordant for Autism Spectrum Disorder Using Whole-Genome Sequencing. | Huang Y et al. | — | 2019 | → |
| <i>In vitro</i> and <i>in vivo</i> efficacy of <i>Caenorhabditis elegans</i> recombinant antimicrobial protein against Gram-negative bacteria. | Mir DA et al. | — | 2019 | → |
| Increased Ca<sup>2+</sup> signaling in <i>NRXN1α</i><sup><i>+/-</i></sup> neurons derived from ASD induced pluripotent stem cells. | Avazzadeh S et al. | — | 2019 | → |
| Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease. | Fotiou E et al. | — | 2019 | → |
| Interneuron Development Is Disrupted in Preterm Brains With Diffuse White Matter Injury: Observations in Mouse and Human. | Stolp HB et al. | — | 2019 | → |
| <i>SYNGAP1</i> encephalopathy: A distinctive generalized developmental and epileptic encephalopathy. | Vlaskamp DRM et al. | — | 2019 | → |
| Loss of EPAC2 alters dendritic spine morphology and inhibitory synapse density. | Jones KA et al. | — | 2019 | → |
| Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders. | Gantois I et al. | — | 2019 | → |
| Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations. | Hiroi N et al. | — | 2019 | → |
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| NGL-3 in the regulation of brain development, Akt/GSK3b signaling, long-term depression, and locomotive and cognitive behaviors. | Lee H et al. | — | 2019 | → |
| Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomaly. | Pillai NR et al. | — | 2019 | → |
| On the Modulatory Roles of Neuregulins/ErbB Signaling on Synaptic Plasticity. | Ledonne A et al. | — | 2019 | → |
| Pathway enrichment analysis and visualization of omics data using g:Profiler, GSEA, Cytoscape and EnrichmentMap. | Reimand J et al. | — | 2019 | → |
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| Polygenic risk scores in psychiatry: Will they be useful for clinicians? | Fullerton JM et al. | — | 2019 | → |
| SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age. | Qiu S et al. | — | 2019 | → |
| Structural and Functional Aberrations of the Auditory Brainstem in Autism Spectrum Disorder. | Smith A et al. | — | 2019 | → |
| Synapse-to-Nucleus Signaling in Neurodegenerative and Neuropsychiatric Disorders. | Parra-Damas A et al. | — | 2019 | → |
| SYNGAP1 mutations: Clinical, genetic, and pathophysiological features. | Agarwal M et al. | — | 2019 | → |
| Temporal Regulation of Dendritic Spines Through NrCAM-Semaphorin3F Receptor Signaling in Developing Cortical Pyramidal Neurons. | Mohan V et al. | — | 2019 | → |
| The Architecture of Autism Spectrum Disorder Risk: What Do We Know, and Where Do We Go From Here? | Jutla A et al. | — | 2019 | → |
| The Autism and Angelman Syndrome Protein Ube3A/E6AP: The Gene, E3 Ligase Ubiquitination Targets and Neurobiological Functions. | Khatri N et al. | — | 2019 | → |
| The role of Pax6 in brain development and its impact on pathogenesis of autism spectrum disorder. | Kikkawa T et al. | — | 2019 | → |
| The Synaptic and Neuronal Functions of the X-Linked Intellectual Disability Protein Interleukin-1 Receptor Accessory Protein Like 1 (IL1RAPL1). | Montani C et al. | — | 2019 | → |
| Understanding intellectual disability and autism spectrum disorders from common mouse models: synapses to behaviour. | Verma V et al. | — | 2019 | → |
| Abnormalities in interactions of Rho GTPases with scaffolding proteins contribute to neurodevelopmental disorders. | Reichova A et al. | — | 2018 | → |
| A genetic variant near adaptor-related protein complex 2 alpha 2 subunit gene is associated with coronary artery disease in a Chinese population. | Wang S et al. | — | 2018 | → |
| Allele-specific expression in a family quartet with autism reveals mono-to-biallelic switch and novel transcriptional processes of autism susceptibility genes. | Lin CY et al. | — | 2018 | → |
| An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. | Chen S et al. | — | 2018 | → |
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| Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders. | Napoli E et al. | — | 2018 | → |
| Assessing the evidence for shared genetic risks across psychiatric disorders and traits. | Martin J et al. | — | 2018 | → |
| Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis. | Zhang Y et al. | — | 2018 | → |
| A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies. | Liu Y et al. | — | 2018 | → |
| Autism throughout genetics: Perusal of the implication of ion channels. | Daghsni M et al. | — | 2018 | → |
| Behavioral phenotypes and neurobiological mechanisms in the Shank1 mouse model for autism spectrum disorder: A translational perspective. | Sungur AÖ et al. | — | 2018 | → |
| Brief Report: Clusters and Trajectories Across the Autism and/or ADHD Spectrum. | LaBianca S et al. | — | 2018 | → |
| Cell-Type-Specific <i>Shank2</i> Deletion in Mice Leads to Differential Synaptic and Behavioral Phenotypes. | Kim R et al. | — | 2018 | → |
| Characterizing the Interplay Between Autism Spectrum Disorder and Comorbid Medical Conditions: An Integrative Review. | Tye C et al. | — | 2018 | → |
| Chromatin Remodeling Proteins in Epilepsy: Lessons From <i>CHD2</i>-Associated Epilepsy. | Lamar KJ et al. | — | 2018 | → |
| Chromosome 18 gene dosage map 2.0. | Cody JD et al. | — | 2018 | → |
| Chronic treatment with a MEK inhibitor reverses enhanced excitatory field potentials in Syngap1<sup>+/-</sup> mice. | Kopanitsa MV et al. | — | 2018 | → |
| Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders. | Xu M et al. | — | 2018 | → |
| Cntn6 deficiency impairs allocentric navigation in mice. | Mu D et al. | — | 2018 | → |
| Common functional variants of the glutamatergic system in Autism spectrum disorder with high and low intellectual abilities. | Chiocchetti AG et al. | — | 2018 | → |
| Common Ribs of Inhibitory Synaptic Dysfunction in the Umbrella of Neurodevelopmental Disorders. | Ali Rodriguez R et al. | — | 2018 | → |
| Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. | Hoang N et al. | — | 2018 | → |
| CoNVaQ: a web tool for copy number variation-based association studies. | Larsen SJ et al. | — | 2018 | → |
| Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders. | Stamouli S et al. | — | 2018 | → |
| Copy number variation in fetal alcohol spectrum disorder. | Zarrei M et al. | — | 2018 | → |
| Copy Number Variations in Adult-onset Neuropsychiatric Diseases. | Lew AR et al. | — | 2018 | → |
| Dendritic spine actin cytoskeleton in autism spectrum disorder. | Joensuu M et al. | — | 2018 | → |
| Distinct Phenotypes of <i>Shank2</i> Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With <i>SHANK2</i> Variants. | Eltokhi A et al. | — | 2018 | → |
| Epigenetic variability in conversion to psychosis: novel findings from an innovative longitudinal methylomic analysis. | Kebir O et al. | — | 2018 | → |
| Examination of the expression and prognostic significance of DLGAPs in gastric cancer using the TCGA database and bioinformatic analysis. | Liu J et al. | — | 2018 | → |
| Genetics of autism spectrum disorder. | Ramaswami G et al. | — | 2018 | → |
| Genetic susceptibility in obsessive-compulsive disorder. | Fernandez TV et al. | — | 2018 | → |
| Genetic testing and autism: Tutorial for communication sciences and disorders. | DeThorne LS et al. | — | 2018 | → |
| Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review. | Soler J et al. | — | 2018 | → |
| Global characterization of copy number variants in epilepsy patients from whole genome sequencing. | Monlong J et al. | — | 2018 | → |
| Heparan Sulfate Proteoglycans as Emerging Players in Synaptic Specificity. | Condomitti G et al. | — | 2018 | → |
| Heterogeneity of Cell Surface Glutamate and GABA Receptor Expression in Shank and CNTN4 Autism Mouse Models. | Heise C et al. | — | 2018 | → |
| High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome. | Chandradasa M et al. | — | 2018 | → |
| High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders. | Viñas-Jornet M et al. | — | 2018 | → |
| <i>De novo</i> Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis. | Alonso-Gonzalez A et al. | — | 2018 | → |
| Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder. | Griswold AJ et al. | — | 2018 | → |
| Imaging genetics in autism spectrum disorders: Linking genetics and brain imaging in the pursuit of the underlying neurobiological mechanisms. | Fakhoury M | — | 2018 | → |
| iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes. | Khan A et al. | — | 2018 | → |
| Integrin activity in neuronal connectivity. | Lilja J et al. | — | 2018 | → |
| iTRAQ-Based Proteomic Analysis Reveals Protein Profile in Plasma from Children with Autism. | Shen L et al. | — | 2018 | → |
| KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses. | Kim J et al. | — | 2018 | → |
| Learning-dependent chromatin remodeling highlights noncoding regulatory regions linked to autism. | Koberstein JN et al. | — | 2018 | → |
| LINE-1 retrotransposons in healthy and diseased human brain. | Suarez NA et al. | — | 2018 | → |
| Linking spatial gene expression patterns to sex-specific brain structural changes on a mouse model of 16p11.2 hemideletion. | Kumar VJ et al. | — | 2018 | → |
| LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells. | Kawamura Y et al. | — | 2018 | → |
| Maternal Immune Activation and Neuropsychiatric Illness: A Translational Research Perspective. | Brown AS et al. | — | 2018 | → |
| Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples. | Huguet G et al. | — | 2018 | → |
| nArgBP2-SAPAP-SHANK, the core postsynaptic triad associated with psychiatric disorders. | Lee SE et al. | — | 2018 | → |
| NEGR1 and FGFR2 cooperatively regulate cortical development and core behaviours related to autism disorders in mice. | Szczurkowska J et al. | — | 2018 | → |
| Neuregulin 1/ErbB signalling modulates hippocampal mGluRI-dependent LTD and object recognition memory. | Ledonne A et al. | — | 2018 | → |
| Neurexin gene family variants as risk factors for autism spectrum disorder. | Wang J et al. | — | 2018 | → |
| Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. | Thygesen JH et al. | — | 2018 | → |
| Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations. | Luo J et al. | — | 2018 | → |
| Neurofibromatosis type 1 as a model system to study molecular mechanisms of autism spectrum disorder symptoms. | Molosh AI et al. | — | 2018 | → |
| Neuronal Synapses: Microscale Signal Processing Machineries Formed by Phase Separation? | Feng Z et al. | — | 2018 | → |
| Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios. | Cosemans N et al. | — | 2018 | → |
| Peptidome Analysis Reveals Novel Serum Biomarkers for Children with Autism Spectrum Disorder in China. | Yang J et al. | — | 2018 | → |
| Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster. | Iyer J et al. | — | 2018 | → |
| Phototransduction and circadian entrainment are the key pathways in the signaling mechanism for the baculovirus induced tree-top disease in the lepidopteran larvae. | Bhattarai UR et al. | — | 2018 | → |
| Possible involvement of a cell adhesion molecule, Migfilin, in brain development and pathogenesis of autism spectrum disorders. | Ishizuka K et al. | — | 2018 | → |
| Prioritization and functional assessment of noncoding variants associated with complex diseases. | Zhou L et al. | — | 2018 | → |
| Progress in the genetics of autism spectrum disorder. | Woodbury-Smith M et al. | — | 2018 | → |
| Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder. | Fan Y et al. | — | 2018 | → |
| Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders. | Krgovic D et al. | — | 2018 | → |
| RASopathies are associated with a distinct personality profile. | Bizaoui V et al. | — | 2018 | → |
| Reduced Efficacy of d-Amphetamine and 3,4-Methylenedioxymethamphetamine in Inducing Hyperactivity in Mice Lacking the Postsynaptic Scaffolding Protein SHANK1. | Sungur AÖ et al. | — | 2018 | → |
| Regulation of cellular and PCP signalling by the Scribble polarity module. | Milgrom-Hoffman M et al. | — | 2018 | → |
| Rescue of Learning and Memory Deficits in the Human Nonsyndromic Intellectual Disability Cereblon Knock-Out Mouse Model by Targeting the AMP-Activated Protein Kinase-mTORC1 Translational Pathway. | Bavley CC et al. | — | 2018 | → |
| Role of DNA copy number variation in dyslipidemias. | Iacocca MA et al. | — | 2018 | → |
| Shank2 Deletion in Parvalbumin Neurons Leads to Moderate Hyperactivity, Enhanced Self-Grooming and Suppressed Seizure Susceptibility in Mice. | Lee S et al. | — | 2018 | → |
| Somatic mosaicism and neurodevelopmental disease. | D'Gama AM et al. | — | 2018 | → |
| Structural basis of SALM5-induced PTPδ dimerization for synaptic differentiation. | Lin Z et al. | — | 2018 | → |
| Structure/Function Studies of the α4 Subunit Reveal Evolutionary Loss of a GlyR Subtype Involved in Startle and Escape Responses. | Leacock S et al. | — | 2018 | → |
| Studying child development in genetic models of ASD. | Garg S et al. | — | 2018 | → |
| Synapse-to-nucleus communication: from developmental disorders to Alzheimer's disease. | Marcello E et al. | — | 2018 | → |
| Systematic reconstruction of autism biology from massive genetic mutation profiles. | Luo W et al. | — | 2018 | → |
| Thalamic Reticular Dysfunction as a Circuit Endophenotype in Neurodevelopmental Disorders. | Krol A et al. | — | 2018 | → |
| The Evolutionary Landscape of Localized Prostate Cancers Drives Clinical Aggression. | Espiritu SMG et al. | — | 2018 | → |
| The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators. | Weldon M et al. | — | 2018 | → |
| Vitamin D deficiency: infertility and neurodevelopmental diseases (attention deficit hyperactivity disorder, autism, and schizophrenia). | Berridge MJ | — | 2018 | → |
| Whole-Exome Sequencing Identifies One De Novo Variant in the <i>FGD6</i> Gene in a Thai Family with Autism Spectrum Disorder. | Thongnak C et al. | — | 2018 | → |
| Aberrant cognitive phenotypes and altered hippocampal BDNF expression related to epigenetic modifications in mice lacking the post-synaptic scaffolding protein SHANK1: Implications for autism spectrum disorder. | Sungur AÖ et al. | — | 2017 | → |
| A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility Genes. | Zhang C et al. | — | 2017 | → |
| A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies. | Ma R et al. | — | 2017 | → |
| Activity-Dependent Neuroplasticity Induced by an Enriched Environment Reverses Cognitive Deficits in Scribble Deficient Mouse. | Hilal ML et al. | — | 2017 | → |
| A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome. | Zarrei M et al. | — | 2017 | → |
| A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3. | Connolly S et al. | — | 2017 | → |
| Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions. | Hensel C et al. | — | 2017 | → |
| A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. | Gur RE et al. | — | 2017 | → |
| An evaluation of copy number variation detection tools for cancer using whole exome sequencing data. | Zare F et al. | — | 2017 | → |
| A Novel Human <i>CAMK2A</i> Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. | Stephenson JR et al. | — | 2017 | → |
| A Powerful Gene-Based Test Accommodating Common and Low-Frequency Variants to Detect Both Main Effects and Gene-Gene Interaction Effects in Case-Control Studies. | Chung RH et al. | — | 2017 | → |
| Association between genome-wide copy number variation and arsenic-induced skin lesions: a prospective study. | Kibriya MG et al. | — | 2017 | → |
| Astrocyte-Secreted Glypican 4 Regulates Release of Neuronal Pentraxin 1 from Axons to Induce Functional Synapse Formation. | Farhy-Tselnicker I et al. | — | 2017 | → |
| Autism genetics: opportunities and challenges for clinical translation. | Vorstman JAS et al. | — | 2017 | → |
| Autism spectrum disorders: an updated guide for genetic counseling. | Griesi-Oliveira K et al. | — | 2017 | → |
| Bio-collections in autism research. | Reilly J et al. | — | 2017 | → |
| Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects. | de Jesús Ascencio-Montiel I et al. | — | 2017 | → |
| Child and Adult Factors Related to Quality of Life in Adults with Autism. | Moss P et al. | — | 2017 | → |
| Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability. | Mayo S et al. | — | 2017 | → |
| Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. | Fischetto R et al. | — | 2017 | → |
| Clinical phenotype of ASD-associated <i>DYRK1A</i> haploinsufficiency. | Earl RK et al. | — | 2017 | → |
| Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. | Marshall CR et al. | — | 2017 | → |
| Copy Number Variants in Alzheimer's Disease. | Cuccaro D et al. | — | 2017 | → |
| Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome. | Firouzabadi SG et al. | — | 2017 | → |
| Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes. | Lintas C et al. | — | 2017 | → |
| Deficiency of a brain-specific chemokine-like molecule, SAM3, induces cardinal phenotypes of autism spectrum disorders in mice. | Kim S et al. | — | 2017 | → |
| Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure. | Conceição IC et al. | — | 2017 | → |
| De novo 11q deletion including SHANK2 in a patient with global developmental delay. | Marcou CA et al. | — | 2017 | → |
| De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. | Sagar A et al. | — | 2017 | → |
| Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder? | Magdalon J et al. | — | 2017 | → |
| Emerging roles of the neurotrophin receptor TrkC in synapse organization. | Naito Y et al. | — | 2017 | → |
| Ephrin-A2 regulates excitatory neuron differentiation and interneuron migration in the developing neocortex. | Homman-Ludiye J et al. | — | 2017 | → |
| Executive functioning and local-global visual processing: candidate endophenotypes for autism spectrum disorder? | Van Eylen L et al. | — | 2017 | → |
| Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity. | Gilbert J et al. | — | 2017 | → |
| Gene-set analysis shows association between FMRP targets and autism spectrum disorder. | Jansen A et al. | — | 2017 | → |
| Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population. | Wu Z et al. | — | 2017 | → |
| Genome-wide association analysis identifies common variants influencing infant brain volumes. | Xia K et al. | — | 2017 | → |
| Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population. | Chung RH et al. | — | 2017 | → |
| Genome-wide copy number variation analysis in a Chinese autism spectrum disorder cohort. | Guo H et al. | — | 2017 | → |
| Genomic Disorders and Neurocognitive Impairment in Pediatric CKD. | Verbitsky M et al. | — | 2017 | → |
| Genomic imprinting does not reduce the dosage of UBE3A in neurons. | Hillman PR et al. | — | 2017 | → |
| Germline INDELs and CNVs in a cohort of colorectal cancer patients: their characteristics, associations with relapse-free survival time, and potential time-varying effects on the risk of relapse. | Werdyani S et al. | — | 2017 | → |
| Grand-maternal smoking in pregnancy and grandchild's autistic traits and diagnosed autism. | Golding J et al. | — | 2017 | → |
| Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. | Pérez-Palma E et al. | — | 2017 | → |
| High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. | Chen CH et al. | — | 2017 | → |
| High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder. | Grünblatt E et al. | — | 2017 | → |
| Human induced pluripotent stem cells for modelling neurodevelopmental disorders. | Ardhanareeswaran K et al. | — | 2017 | → |
| Identification of novel candidate disease genes from de novo exonic copy number variants. | Gambin T et al. | — | 2017 | → |
| Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons. | Liu X et al. | — | 2017 | → |
| Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder. | Reis VN et al. | — | 2017 | → |
| Isolated chromosome 8p23.2‑pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders. | Shi S et al. | — | 2017 | → |
| Low-dose suramin in autism spectrum disorder: a small, phase I/II, randomized clinical trial. | Naviaux RK et al. | — | 2017 | → |
| Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. | Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium | — | 2017 | → |
| Mice lacking GRIP1/2 show increased social interactions and enhanced phosphorylation at GluA2-S880. | Han M et al. | — | 2017 | → |
| Molecular analyses of neurogenic defects in a human pluripotent stem cell model of fragile X syndrome. | Boland MJ et al. | — | 2017 | → |
| Mutations in <i>RAB39B</i> in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. | Woodbury-Smith M et al. | — | 2017 | → |
| Network Diffusion-Based Prioritization of Autism Risk Genes Identifies Significantly Connected Gene Modules. | Mosca E et al. | — | 2017 | → |
| Neural Glycosylphosphatidylinositol-Anchored Proteins in Synaptic Specification. | Um JW et al. | — | 2017 | → |
| Neurexins 1-3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex. | Harkin LF et al. | — | 2017 | → |
| Neuroanatomy and Neuropathology of Autism Spectrum Disorder in Humans. | Ecker C et al. | — | 2017 | → |
| Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome. | Copping NA et al. | — | 2017 | → |
| Pan-neurexin perturbation results in compromised synapse stability and a reduction in readily releasable synaptic vesicle pool size. | Quinn DP et al. | — | 2017 | → |
| PennCNV in whole-genome sequencing data. | de Araújo Lima L et al. | — | 2017 | → |
| Pharmaceuticals and Stem Cells in Autism Spectrum Disorders: Wishful Thinking? | Sivanesan S et al. | — | 2017 | → |
| Radiogenomics and radiotherapy response modeling. | El Naqa I et al. | — | 2017 | → |
| Recurrent 2q13 microduplication encompassing MALL, NPHP1, RGPD6, and BUB1 associated with autism spectrum disorder, intellectual disability, and liver disorder. | Chen CP et al. | — | 2017 | → |
| Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity. | Tordjman S et al. | — | 2017 | → |
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| Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders. | Mitra I et al. | — | 2017 | → |
| Rho GTPase-activating proteins: Regulators of Rho GTPase activity in neuronal development and CNS diseases. | Huang GH et al. | — | 2017 | → |
| RhoGTPase Regulators Orchestrate Distinct Stages of Synaptic Development. | Martin-Vilchez S et al. | — | 2017 | → |
| RNA sequencing of transformed lymphoblastoid cells from siblings discordant for autism spectrum disorders reveals transcriptomic and functional alterations: Evidence for sex-specific effects. | Tylee DS et al. | — | 2017 | → |
| Role of LRRTMs in synapse development and plasticity. | Roppongi RT et al. | — | 2017 | → |
| Shared atypical default mode and salience network functional connectivity between autism and schizophrenia. | Chen H et al. | — | 2017 | → |
| Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders. | Li J et al. | — | 2017 | → |
| Strategies to identify natural antisense transcripts. | Sun Y et al. | — | 2017 | → |
| Structure-Function Analysis of the GlyR α2 Subunit Autism Mutation p.R323L Reveals a Gain-of-Function. | Zhang Y et al. | — | 2017 | → |
| Synaptic Targeting and Function of SAPAPs Mediated by Phosphorylation-Dependent Binding to PSD-95 MAGUKs. | Zhu J et al. | — | 2017 | → |
| The Age of the Father. | Poot M | — | 2017 | → |
| The co-occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations? | Rachubinski AL et al. | — | 2017 | → |
| The DLGAP family: neuronal expression, function and role in brain disorders. | Rasmussen AH et al. | — | 2017 | → |
| The joint effect of air pollution exposure and copy number variation on risk for autism. | Kim D et al. | — | 2017 | → |
| The Pleiotropic MET Receptor Network: Circuit Development and the Neural-Medical Interface of Autism. | Eagleson KL et al. | — | 2017 | → |
| The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability. | Chaste P et al. | — | 2017 | → |
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| Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders. | Koyama S et al. | — | 2017 | → |
| Whole-genome resequencing of 292 pigeonpea accessions identifies genomic regions associated with domestication and agronomic traits. | Varshney RK et al. | — | 2017 | → |
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| A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. | Biamino E et al. | — | 2016 | → |
| Association of Cell Adhesion Molecules Contactin-6 and Latrophilin-1 Regulates Neuronal Apoptosis. | Zuko A et al. | — | 2016 | → |
| A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. | Lin YC et al. | — | 2016 | → |
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| Bibliometric profile of the global scientific research on autism spectrum disorders. | Sweileh WM et al. | — | 2016 | → |
| Brief Report: Initial Trial of Alpha7-Nicotinic Receptor Stimulation in Two Adult Patients with Autism Spectrum Disorder. | Olincy A et al. | — | 2016 | → |
| Cerebellar Shank2 Regulates Excitatory Synapse Density, Motor Coordination, and Specific Repetitive and Anxiety-Like Behaviors. | Ha S et al. | — | 2016 | → |
| Characterization of social behaviors in caspase-3 deficient mice. | Lo SC et al. | — | 2016 | → |
| Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. | Ho KS et al. | — | 2016 | → |
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| Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder. | Mosca SJ et al. | — | 2016 | → |
| Defects of the Glycinergic Synapse in Zebrafish. | Ogino K et al. | — | 2016 | → |
| Developmental role of the cell adhesion molecule Contactin-6 in the cerebral cortex and hippocampus. | Zuko A et al. | — | 2016 | → |
| Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. | Siu WK et al. | — | 2016 | → |
| DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis. | Joubert BR et al. | — | 2016 | → |
| Early communication deficits in the Shank1 knockout mouse model for autism spectrum disorder: Developmental aspects and effects of social context. | Sungur AÖ et al. | — | 2016 | → |
| Essential role of the nuclear isoform of RBFOX1, a candidate gene for autism spectrum disorders, in the brain development. | Hamada N et al. | — | 2016 | → |
| Frequency and Complexity of De Novo Structural Mutation in Autism. | Brandler WM et al. | — | 2016 | → |
| Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism. | Pilorge M et al. | — | 2016 | → |
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| Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. | Yin CL et al. | — | 2016 | → |
| Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations. | Liu X et al. | — | 2016 | → |
| Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits. | da Silva JM et al. | — | 2016 | → |
| Glycan susceptibility factors in autism spectrum disorders. | Dwyer CA et al. | — | 2016 | → |
| High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families. | AlAyadhi LY et al. | — | 2016 | → |
| Human Inducible Pluripotent Stem Cells and Autism Spectrum Disorder: Emerging Technologies. | Nestor MW et al. | — | 2016 | → |
| Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome. | Rooney GE et al. | — | 2016 | → |
| Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. | Genovese G et al. | — | 2016 | → |
| Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities. | Nazeen S et al. | — | 2016 | → |
| Layer specific and general requirements for ERK/MAPK signaling in the developing neocortex. | Xing L et al. | — | 2016 | → |
| Limited impact of Cntn4 mutation on autism-related traits in developing and adult C57BL/6J mice. | Molenhuis RT et al. | — | 2016 | → |
| LINE1 insertions as a genomic risk factor for schizophrenia: Preliminary evidence from an affected family. | Guffanti G et al. | — | 2016 | → |
| Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice. | Zhang P et al. | — | 2016 | → |
| LRRTM3 Regulates Excitatory Synapse Development through Alternative Splicing and Neurexin Binding. | Um JW et al. | — | 2016 | → |
| MGP-HMM: Detecting genome-wide CNVs using an HMM for modeling mate pair insertion sizes and read counts. | Malekpour SA et al. | — | 2016 | → |
| miRNAs in NMDA receptor-dependent synaptic plasticity and psychiatric disorders. | Shen H et al. | — | 2016 | → |
| Neural transcriptome of constitutional Pten dysfunction in mice and its relevance to human idiopathic autism spectrum disorder. | Tilot AK et al. | — | 2016 | → |
| Neuronal migration disorders: Focus on the cytoskeleton and epilepsy. | Stouffer MA et al. | — | 2016 | → |
| Neuroscience: Untangling autism. | Bolkan S et al. | — | 2016 | → |
| Overexpression of Telomerase Reverse Transcriptase Induces Autism-like Excitatory Phenotypes in Mice. | Kim KC et al. | — | 2016 | → |
| Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. | Fry AE et al. | — | 2016 | → |
| Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder. | Blackmon K et al. | — | 2016 | → |
| Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder. | Rucker JJ et al. | — | 2016 | → |
| Prioritizing the development of mouse models for childhood brain disorders. | Ogden KK et al. | — | 2016 | → |
| Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM et al. | — | 2016 | → |
| Recording Mouse Ultrasonic Vocalizations to Evaluate Social Communication. | Ferhat AT et al. | — | 2016 | → |
| Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders. | Picinelli C et al. | — | 2016 | → |
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| Relationship Between Cortical Gyrification, White Matter Connectivity, and Autism Spectrum Disorder. | Ecker C et al. | — | 2016 | → |
| Resequencing and Association Analysis of Six PSD-95-Related Genes as Possible Susceptibility Genes for Schizophrenia and Autism Spectrum Disorders. | Xing J et al. | — | 2016 | → |
| RIM-binding protein 2 regulates release probability by fine-tuning calcium channel localization at murine hippocampal synapses. | Grauel MK et al. | — | 2016 | → |
| Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study. | Wong S et al. | — | 2016 | → |
| RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | Soueid J et al. | — | 2016 | → |
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| Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies. | Gokoolparsadh A et al. | — | 2016 | → |
| SRGAP2 and Its Human-Specific Paralog Co-Regulate the Development of Excitatory and Inhibitory Synapses. | Fossati M et al. | — | 2016 | → |
| Studying the pathophysiologic connection between cardiovascular and nervous systems using stem cells. | Coskun V et al. | — | 2016 | → |
| Support vector machine model of developmental brain gene expression data for prioritization of Autism risk gene candidates. | Cogill S et al. | — | 2016 | → |
| Synapse alterations in autism: Review of animal model findings. | Zatkova M et al. | — | 2016 | → |
| Systematic identification of phenotypically enriched loci using a patient network of genomic disorders. | Reyes-Palomares A et al. | — | 2016 | → |
| Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice. | Wells MF et al. | — | 2016 | → |
| The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. | Richard AC et al. | — | 2016 | → |
| The autism-associated MET receptor tyrosine kinase engages early neuronal growth mechanism and controls glutamatergic circuits development in the forebrain. | Peng Y et al. | — | 2016 | → |
| The Contribution of Mosaic Variants to Autism Spectrum Disorder. | Freed D et al. | — | 2016 | → |
| The contribution of protein intrinsic disorder to understand the role of genetic variants uncovered by autism spectrum disorders exome studies. | Schuch JB et al. | — | 2016 | → |
| The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. | Ziats MN et al. | — | 2016 | → |
| The frontier of RNA metamorphosis and ribosome signature in neocortical development. | Kraushar ML et al. | — | 2016 | → |
| The genetics and neurobiology of ESSENCE: The third Birgit Olsson lecture. | Bourgeron T | — | 2016 | → |
| The Human Model: Changing Focus on Autism Research. | Muotri AR | — | 2016 | → |
| The Inositol Trisphosphate/Calcium Signaling Pathway in Health and Disease. | Berridge MJ | — | 2016 | → |
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| 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. | Yang M et al. | — | 2015 | → |
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| An autism case history to review the systematic analysis of large-scale data to refine the diagnosis and treatment of neuropsychiatric disorders. | Kohane IS | — | 2015 | → |
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| Clinical and Molecular Cytogenetic Characterization of a de novo Interstitial 1p31.1p31.3 Deletion in a Boy with Moderate Intellectual Disability and Severe Language Impairment. | Tassano E et al. | — | 2015 | → |
| Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior. | Martínez-Jacobo L et al. | — | 2015 | → |
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| CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders. | Hu J et al. | — | 2015 | → |
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| Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment. | Pettigrew KA et al. | — | 2015 | → |
| De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability. | Parker MJ et al. | — | 2015 | → |
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| Developing Medications Targeting Glutamatergic Dysfunction in Autism: Progress to Date. | Fung LK et al. | — | 2015 | → |
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| First glimpses of the neurobiology of autism spectrum disorder. | Sanders SJ | — | 2015 | → |
| Fmr1 deficiency promotes age-dependent alterations in the cortical synaptic proteome. | Tang B et al. | — | 2015 | → |
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| Genome-Wide Mapping of Structural Variations Reveals a Copy Number Variant That Determines Reproductive Morphology in Cucumber. | Zhang Z et al. | — | 2015 | → |
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| Integrating Diverse Types of Genomic Data to Identify Genes that Underlie Adverse Pregnancy Phenotypes. | Hirbo J et al. | — | 2015 | → |
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| Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. | Kopp N et al. | — | 2015 | → |
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| Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity. | Apalasamy YD et al. | — | 2015 | → |
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| The genetics of early-onset bipolar disorder: A systematic review. | Kennedy KP et al. | — | 2015 | → |
| The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function. | Sinkus ML et al. | — | 2015 | → |
| The human clinical phenotypes of altered CHRNA7 copy number. | Gillentine MA et al. | — | 2015 | → |
| The IgLON Family Member Negr1 Promotes Neuronal Arborization Acting as Soluble Factor via FGFR2. | Pischedda F et al. | — | 2015 | → |
| The phenotypic manifestations of rare genic CNVs in autism spectrum disorder. | Merikangas AK et al. | — | 2015 | → |
| The Purkinje neuron: A central orchestrator of cerebellar neurogenesis. | Fleming J et al. | — | 2015 | → |
| The use of stem cells to study autism spectrum disorder. | Ardhanareeswaran K et al. | — | 2015 | → |
| The variation game: Cracking complex genetic disorders with NGS and omics data. | Cui H et al. | — | 2015 | → |
| Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder. | Jalbrzikowski M et al. | — | 2015 | → |
| Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation. | Lee EJ et al. | — | 2015 | → |
| Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. | Kozol RA et al. | — | 2015 | → |
| Ulysses: accurate detection of low-frequency structural variations in large insert-size sequencing libraries. | Gillet-Markowska A et al. | — | 2015 | → |
| Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. | Woodbury-Smith M et al. | — | 2015 | → |
| Variants of the CNTNAP2 5' promoter as risk factors for autism spectrum disorders: a genetic and functional approach. | Chiocchetti AG et al. | — | 2015 | → |
| Whole-genome CNV analysis: advances in computational approaches. | Pirooznia M et al. | — | 2015 | → |
| Whole-genome sequencing of quartet families with autism spectrum disorder. | Yuen RK et al. | — | 2015 | → |
| A blueprint for research on Shankopathies: a view from research on autism spectrum disorder. | Carbonetto S | — | 2014 | → |
| Absence of strong strain effects in behavioral analyses of Shank3-deficient mice. | Drapeau E et al. | — | 2014 | → |
| A cell-permeable ester derivative of the JmjC histone demethylase inhibitor IOX1. | Schiller R et al. | — | 2014 | → |
| A cell surface biotinylation assay to reveal membrane-associated neuronal cues: Negr1 regulates dendritic arborization. | Pischedda F et al. | — | 2014 | → |
| A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. | Bacchelli E et al. | — | 2014 | → |
| A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. | Ceroni F et al. | — | 2014 | → |
| Adult neuropsychiatric expression and familial segregation of 2q13 duplications. | Costain G et al. | — | 2014 | → |
| Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. | Shen J et al. | — | 2014 | → |
| A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus. | Oei L et al. | — | 2014 | → |
| A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk. | Younkin SG et al. | — | 2014 | → |
| Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain. | van de Lagemaat LN et al. | — | 2014 | → |
| An evaluation of copy number variation detection tools from whole-exome sequencing data. | Tan R et al. | — | 2014 | → |
| An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder. | Cappi C et al. | — | 2014 | → |
| A novel computational biostatistics approach implies impaired dephosphorylation of growth factor receptors as associated with severity of autism. | Wittkowski KM et al. | — | 2014 | → |
| Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation. | Marrale M et al. | — | 2014 | → |
| Association of CDH11 with non-syndromic ASD. | Crepel A et al. | — | 2014 | → |
| A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. | Helsmoortel C et al. | — | 2014 | → |
| Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits. | Jiang-Xie LF et al. | — | 2014 | → |
| Autism spectrum disorder: advances in evidence-based practice. | Anagnostou E et al. | — | 2014 | → |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME et al. | — | 2014 | → |
| Behavioral signatures related to genetic disorders in autism. | Bruining H et al. | — | 2014 | → |
| Biological overlap of attention-deficit/hyperactivity disorder and autism spectrum disorder: evidence from copy number variants. | Martin J et al. | — | 2014 | → |
| Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder. | Uddin M et al. | — | 2014 | → |
| Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders. | Xu X et al. | — | 2014 | → |
| Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. | Kamien B et al. | — | 2014 | → |
| CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. | Chénier S et al. | — | 2014 | → |
| Chromatin regulators, phenotypic robustness, and autism risk. | Suliman R et al. | — | 2014 | → |
| Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome. | Sahún I et al. | — | 2014 | → |
| Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range. | Waltes R et al. | — | 2014 | → |
| Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders. | Waltes R et al. | — | 2014 | → |
| Control of neural circuit formation by leucine-rich repeat proteins. | de Wit J et al. | — | 2014 | → |
| Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D et al. | — | 2014 | → |
| Convergent synaptic and circuit substrates underlying autism genetic risks. | McGee A et al. | — | 2014 | → |
| Copy number variants and therapeutic response to antidepressant medication in major depressive disorder. | Tansey KE et al. | — | 2014 | → |
| Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. | Noor A et al. | — | 2014 | → |
| Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. | Connolly JJ et al. | — | 2014 | → |
| Copy number variation in Han Chinese individuals with autism spectrum disorder. | Gazzellone MJ et al. | — | 2014 | → |
| Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. | McGrath LM et al. | — | 2014 | → |
| Copy-number variation in the pathogenesis of autism spectrum disorder. | Shishido E et al. | — | 2014 | → |
| Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling. | Jayachandran R et al. | — | 2014 | → |
| Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. | Brand H et al. | — | 2014 | → |
| Cytogenomic mapping and bioinformatic mining reveal interacting brain expressed genes for intellectual disability. | Xu F et al. | — | 2014 | → |
| Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis. | Hori K et al. | — | 2014 | → |
| DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics. | Liu L et al. | — | 2014 | → |
| Deletion of α-neurexin II results in autism-related behaviors in mice. | Dachtler J et al. | — | 2014 | → |
| De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. | Babbs C et al. | — | 2014 | → |
| Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes. | Lionel AC et al. | — | 2014 | → |
| Duplication of the NPHP1 gene in patients with autism spectrum disorder and normal intellectual ability: a case series. | Yasuda Y et al. | — | 2014 | → |
| Etiology of autism spectrum disorder: a genomics perspective. | Connolly JJ et al. | — | 2014 | → |
| Evolutionary conservation in genes underlying human psychiatric disorders. | Ogawa LM et al. | — | 2014 | → |
| Exome sequencing and arrayCGH detection of gene sequence and copy number variation between ILS and ISS mouse strains. | Dumas L et al. | — | 2014 | → |
| Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. | Cukier HN et al. | — | 2014 | → |
| Explaining additional genetic variation in complex traits. | Robinson MR et al. | — | 2014 | → |
| Family-based clinical associations and functional characterization of the serotonin 2A receptor gene (HTR2A) in autism spectrum disorder. | Smith RM et al. | — | 2014 | → |
| Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome. | O'Bleness M et al. | — | 2014 | → |
| Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. | Tordjman S et al. | — | 2014 | → |
| Genetic aspects of autism spectrum disorders: insights from animal models. | Banerjee S et al. | — | 2014 | → |
| Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era. | Jiang YH et al. | — | 2014 | → |
| Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population. | Yamasaki M et al. | — | 2014 | → |
| Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver disease. | Zain SM et al. | — | 2014 | → |
| Genome-wide copy number variation study reveals KCNIP1 as a modulator of insulin secretion. | Lee HS et al. | — | 2014 | → |
| Genome-wide distribution of Auts2 binding localizes with active neurodevelopmental genes. | Oksenberg N et al. | — | 2014 | → |
| Genome-wide identification and characterization of fixed human-specific regulatory regions. | Marnetto D et al. | — | 2014 | → |
| Genomic and genetic aspects of autism spectrum disorder. | Liu X et al. | — | 2014 | → |
| Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. | Doherty JL et al. | — | 2014 | → |
| Genomics in neurological disorders. | Han G et al. | — | 2014 | → |
| Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis. | Riggs ER et al. | — | 2014 | → |
| GluN2B-containing NMDA receptors promote glutamate synapse development in hippocampal interneurons. | Kelsch W et al. | — | 2014 | → |
| Glutamatergic candidate genes in autism spectrum disorder: an overview. | Chiocchetti AG et al. | — | 2014 | → |
| Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. | Huguet G et al. | — | 2014 | → |
| High-throughput capturing and characterization of mutations in essential genes of Caenorhabditis elegans. | Chu JS et al. | — | 2014 | → |
| Human-specific CpG 'beacons' identify human-specific prefrontal cortex H3K4me3 chromatin peaks. | Bell CG et al. | — | 2014 | → |
| Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population. | Matsunami N et al. | — | 2014 | → |
| Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families. | Egger G et al. | — | 2014 | → |
| Identification of structural variation in mouse genomes. | Keane TM et al. | — | 2014 | → |
| Identifying novel interventional strategies for psychiatric disorders: integrating genomics, 'enviromics' and gene-environment interactions in valid preclinical models. | McOmish CE et al. | — | 2014 | → |
| Increasing prevalence, changes in diagnostic criteria, and nutritional risk factors for autism spectrum disorders. | Neggers YH | — | 2014 | → |
| Integrated systems analysis reveals a molecular network underlying autism spectrum disorders. | Li J et al. | — | 2014 | → |
| Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms. | Srivastava AK et al. | — | 2014 | → |
| Loss of COMMD1 and copper overload disrupt zinc homeostasis and influence an autism-associated pathway at glutamatergic synapses. | Baecker T et al. | — | 2014 | → |
| Low-Frequency Copy-Number Variants and General Cognitive Ability: No Evidence of Association. | Kirkpatrick RM et al. | — | 2014 | → |
| Mapk/Erk activation in an animal model of social deficits shows a possible link to autism. | Faridar A et al. | — | 2014 | → |
| Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. | Leblond CS et al. | — | 2014 | → |
| MET receptor tyrosine kinase controls dendritic complexity, spine morphogenesis, and glutamatergic synapse maturation in the hippocampus. | Qiu S et al. | — | 2014 | → |
| Microtubules and neurodevelopmental disease: the movers and the makers. | Breuss M et al. | — | 2014 | → |
| MIRA: mutual information-based reporter algorithm for metabolic networks. | Cicek AE et al. | — | 2014 | → |
| Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. | Chaste P et al. | — | 2014 | → |
| Molecular convergence of neurodevelopmental disorders. | Chen ES et al. | — | 2014 | → |
| Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder. | Berko ER et al. | — | 2014 | → |
| Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease. | Werner P et al. | — | 2014 | → |
| Neural cell adhesion molecule NrCAM regulates Semaphorin 3F-induced dendritic spine remodeling. | Demyanenko GP et al. | — | 2014 | → |
| Neurobiology of autism gene products: towards pathogenesis and drug targets. | Kleijer KT et al. | — | 2014 | → |
| Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia. | Mokhtar SS et al. | — | 2014 | → |
| Obesity in children with autism spectrum disorder. | Curtin C et al. | — | 2014 | → |
| Outfoxed by RBFOX1-a caution about ascertainment bias. | Kamien B et al. | — | 2014 | → |
| Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression. | Orlic-Milacic M et al. | — | 2014 | → |
| Potential Role of Selenoenzymes and Antioxidant Metabolism in relation to Autism Etiology and Pathology. | Raymond LJ et al. | — | 2014 | → |
| Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. | Corominas R et al. | — | 2014 | → |
| Protein interaction networks reveal novel autism risk genes within GWAS statistical noise. | Correia C et al. | — | 2014 | → |
| Protein signatures of oxidative stress response in a patient specific cell line model for autism. | Chiocchetti AG et al. | — | 2014 | → |
| Psychiatric disorders: diagnosis to therapy. | Krystal JH et al. | — | 2014 | → |
| Rare and low-frequency variants in human common diseases and other complex traits. | Lettre G | — | 2014 | → |
| Recent advances in the study of somatic mosaicism and diseases other than cancer. | Erickson RP | — | 2014 | → |
| Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders. | Santini E et al. | — | 2014 | → |
| Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. | Correia CT et al. | — | 2014 | → |
| Repetitive behaviors in the Shank1 knockout mouse model for autism spectrum disorder: developmental aspects and effects of social context. | Sungur AÖ et al. | — | 2014 | → |
| Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. | Werling DM et al. | — | 2014 | → |
| Reversal of autism-like behaviors and metabolism in adult mice with single-dose antipurinergic therapy. | Naviaux JC et al. | — | 2014 | → |
| Role of the DLGAP2 gene encoding the SAP90/PSD-95-associated protein 2 in schizophrenia. | Li JM et al. | — | 2014 | → |
| Sarm1 deficiency impairs synaptic function and leads to behavioral deficits, which can be ameliorated by an mGluR allosteric modulator. | Lin CW et al. | — | 2014 | → |
| Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus. | Kodama S et al. | — | 2014 | → |
| Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability. | Kashevarova AA et al. | — | 2014 | → |
| SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. | Bowton E et al. | — | 2014 | → |
| Statistical power and significance testing in large-scale genetic studies. | Sham PC et al. | — | 2014 | → |
| Structural genomic variation as risk factor for idiopathic recurrent miscarriage. | Nagirnaja L et al. | — | 2014 | → |
| Synaptic basis of social dysfunction: a focus on postsynaptic proteins linking group-I mGluRs with AMPARs and NMDARs. | O'Connor EC et al. | — | 2014 | → |
| Synaptic proteins and receptors defects in autism spectrum disorders. | Chen J et al. | — | 2014 | → |
| Synaptic, transcriptional and chromatin genes disrupted in autism. | De Rubeis S et al. | — | 2014 | → |
| Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. | Sakai Y et al. | — | 2014 | → |
| The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines. | Pathania M et al. | — | 2014 | → |
| The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. | Buxbaum JD et al. | — | 2014 | → |
| The clinical significance of small copy number variants in neurodevelopmental disorders. | Asadollahi R et al. | — | 2014 | → |
| The developmental transcriptome of the human brain: implications for neurodevelopmental disorders. | Tebbenkamp AT et al. | — | 2014 | → |
| The diverse genetic landscape of neurodevelopmental disorders. | Hu WF et al. | — | 2014 | → |
| The genetics of microdeletion and microduplication syndromes: an update. | Watson CT et al. | — | 2014 | → |
| The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism. | Hadley D et al. | — | 2014 | → |
| The phenotypic manifestations of rare CNVs in schizophrenia. | Merikangas AK et al. | — | 2014 | → |
| The Potential Role of Insulin on the Shank-Postsynaptic Platform in Neurodegenerative Diseases Involving Cognition. | Chow F et al. | — | 2014 | → |
| The Relationship of HLA Class I and II Alleles and Haplotypes with Autism: A Case Control Study. | Al-Hakbany M et al. | — | 2014 | → |
| The role of de novo mutations in the genetics of autism spectrum disorders. | Ronemus M et al. | — | 2014 | → |
| The social brain network and autism. | Misra V | — | 2014 | → |
| The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. | Vandeweyer G et al. | — | 2014 | → |
| Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. | Blumenthal I et al. | — | 2014 | → |
| TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes. | Anvar SY et al. | — | 2014 | → |
| TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons. | Ngo L et al. | — | 2014 | → |
| Ultrasonic vocalizations in Shank mouse models for autism spectrum disorders: detailed spectrographic analyses and developmental profiles. | Wöhr M | — | 2014 | → |
| Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data. | Fromer M et al. | — | 2014 | → |
| Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. | St Pourcain B et al. | — | 2014 | → |
| Visualization and probability-based scoring of structural variants within repetitive sequences. | Halper-Stromberg E et al. | — | 2014 | → |