Structural variation of chromosomes in autism spectrum disorder.
paper
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- Authors
- Marshall, Christian R; Noor, Abdul; Vincent, John B; Lionel, Anath C; Feuk, Lars; Skaug, Jennifer; Shago, Mary; Moessner, Rainald; Pinto, Dalila; Ren, Yan; Thiruvahindrapduram, Bhooma; Fiebig, Andreas; Schreiber, Stefan; Friedman, Jan; Ketelaars, Cees E J; Vos, Yvonne J; Ficicioglu, Can; Kirkpatrick, Susan; Nicolson, Rob; Sloman, Leon; Summers, Anne; Gibbons, Clare A; Teebi, Ahmad; Chitayat, David; Weksberg, Rosanna; Thompson, Ann; Vardy, Cathy; Crosbie, Vicki; Luscombe, Sandra; Baatjes, Rebecca; Zwaigenbaum, Lonnie; Roberts, Wendy; Fernandez, Bridget; Szatmari, Peter; Scherer, Stephen W
- Year
- 2008
- Journal
- American journal of human genetics
- PMID
- 18252227
- DOI
- 10.1016/j.ajhg.2007.12.009
- PMCID
- PMC2426913
Structural variation (copy number variation [CNV] including deletion and duplication, translocation, inversion) of chromosomes has been identified in some individuals with autism spectrum disorder (ASD), but the full etiologic role is unknown. We performed genome-wide assessment for structural abnormalities in 427 unrelated ASD cases via single-nucleotide polymorphism microarrays and karyotyping. With microarrays, we discovered 277 unbalanced CNVs in 44% of ASD families not present in 500 controls (and re-examined in another 1152 controls). Karyotyping detected additional balanced changes. Although most variants were inherited, we found a total of 27 cases with de novo alterations, and in three (11%) of these individuals, two or more new variants were observed. De novo CNVs were found in approximately 7% and approximately 2% of idiopathic families having one child, or two or more ASD siblings, respectively. We also detected 13 loci with recurrent/overlapping CNV in unrelated cases, and at these sites, deletions and duplications affecting the same gene(s) in different individuals and sometimes in asymptomatic carriers were also found. Notwithstanding complexities, our results further implicate the SHANK3-NLGN4-NRXN1 postsynaptic density genes and also identify novel loci at DPP6-DPP10-PCDH9 (synapse complex), ANKRD11, DPYD, PTCHD1, 15q24, among others, for a role in ASD susceptibility. Our most compelling result discovered CNV at 16p11.2 (p = 0.002) (with characteristics of a genomic disorder) at approximately 1% frequency. Some of the ASD regions were also common to mental retardation loci. Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup.
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| Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications. | Ghasemi Firouzabadi S et al. | — | 2016 | → |
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| A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. | Biamino E et al. | — | 2016 | → |
| A novel copy number variants kernel association test with application to autism spectrum disorders studies. | Zhan X et al. | — | 2016 | → |
| Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. | Bertelsen B et al. | — | 2016 | → |
| A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons. | Lin YC et al. | — | 2016 | → |
| Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. | Green Snyder L et al. | — | 2016 | → |
| Behavioral phenotypes of genetic mouse models of autism. | Kazdoba TM et al. | — | 2016 | → |
| Bibliometric profile of the global scientific research on autism spectrum disorders. | Sweileh WM et al. | — | 2016 | → |
| Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. | Goldenberg A et al. | — | 2016 | → |
| Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. | Ho KS et al. | — | 2016 | → |
| Coming of age: ten years of next-generation sequencing technologies. | Goodwin S et al. | — | 2016 | → |
| Copy number variation associates with mortality in long-lived individuals: a genome-wide assessment. | Nygaard M et al. | — | 2016 | → |
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| COSMOS: accurate detection of somatic structural variations through asymmetric comparison between tumor and normal samples. | Yamagata K et al. | — | 2016 | → |
| Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. | D'Angelo D et al. | — | 2016 | → |
| Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong. | Siu WK et al. | — | 2016 | → |
| Does the cognitive architecture of simplex and multiplex ASD families differ? | Oerlemans AM et al. | — | 2016 | → |
| Drosophila Homolog of Human KIF22 at the Autism-Linked 16p11.2 Loci Influences Synaptic Connectivity at Larval Neuromuscular Junctions. | Park SM et al. | — | 2016 | → |
| Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. | Dastan J et al. | — | 2016 | → |
| Functional Evaluations of Genes Disrupted in Patients with Tourette's Disorder. | Sun N et al. | — | 2016 | → |
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| Genome-wide characteristics of <i>de novo</i> mutations in autism. | Yuen RK et al. | — | 2016 | → |
| Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications. | Grams SE et al. | — | 2016 | → |
| High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families. | AlAyadhi LY et al. | — | 2016 | → |
| Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia. | Genovese G et al. | — | 2016 | → |
| Insights in human epigenomic dynamics through comparative primate analysis. | Bell CG | — | 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 | → |
| Looping Genomes: Diagnostic Change and the Genetic Makeup of the Autism Population. | Navon D et al. | — | 2016 | → |
| Merging data from genetic and epigenetic approaches to better understand autistic spectrum disorder. | Grayson DR et al. | — | 2016 | → |
| MicroRNAs: Key Regulators in the Central Nervous System and Their Implication in Neurological Diseases. | Cao DD et al. | — | 2016 | → |
| miRNAs in NMDA receptor-dependent synaptic plasticity and psychiatric disorders. | Shen H et al. | — | 2016 | → |
| Molecular characterization of a rare analphoid supernumerary marker chromosome derived from 7q35 → qter: a case report. | Marques B et al. | — | 2016 | → |
| Morphometric Analysis of Recognized Genes for Autism Spectrum Disorders and Obesity in Relationship to the Distribution of Protein-Coding Genes on Human Chromosomes. | McGuire AB et al. | — | 2016 | → |
| Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders. | Truong DT et al. | — | 2016 | → |
| Neocortical neurogenesis and the etiology of autism spectrum disorder. | Packer A | — | 2016 | → |
| Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging. | Jenkins AK et al. | — | 2016 | → |
| Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation. | Need AC et al. | — | 2016 | → |
| Perturbed proteostasis in autism spectrum disorders. | Louros SR et al. | — | 2016 | → |
| POGZ truncating alleles cause syndromic intellectual disability. | White J et al. | — | 2016 | → |
| Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families. | Leppa VM et al. | — | 2016 | → |
| Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes. | Arbogast T et al. | — | 2016 | → |
| Regulation of neuronal migration, an emerging topic in autism spectrum disorders. | Reiner O 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 | → |
| Satb2 determines miRNA expression and long-term memory in the adult central nervous system. | Jaitner C et al. | — | 2016 | → |
| Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies. | Gokoolparsadh A et al. | — | 2016 | → |
| SMASH, a fragmentation and sequencing method for genomic copy number analysis. | Wang Z et al. | — | 2016 | → |
| Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1. | Gregoric Kumperscak H et al. | — | 2016 | → |
| Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy. | Cooper SR et al. | — | 2016 | → |
| Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance. | Bock I et al. | — | 2016 | → |
| Thalamic reticular impairment underlies attention deficit in Ptchd1(Y/-) mice. | Wells MF et al. | — | 2016 | → |
| The autism-related gene SNRPN regulates cortical and spine development via controlling nuclear receptor Nr4a1. | Li H et al. | — | 2016 | → |
| The Contribution of Mosaic Variants to Autism Spectrum Disorder. | Freed D et al. | — | 2016 | → |
| The emerging roles of MicroRNAs in autism spectrum disorders. | Fregeac J et al. | — | 2016 | → |
| The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. | Ziats MN et al. | — | 2016 | → |
| The importance of de novo mutations for pediatric neurological disease--It is not all in utero or birth trauma. | Erickson RP | — | 2016 | → |
| The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C et al. | — | 2016 | → |
| The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia. | Crider A et al. | — | 2016 | → |
| Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics. | Kazdoba TM et al. | — | 2016 | → |
| Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features. | Nimmo GA et al. | — | 2016 | → |
| Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. | Gazzellone MJ et al. | — | 2016 | → |
| Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops. | Mullins C et al. | — | 2016 | → |
| Unmasking a novel disease gene NEO1 associated with autism spectrum disorders by a hemizygous deletion on chromosome 15 and a functional polymorphism. | Siu WK et al. | — | 2016 | → |
| VARPRISM: incorporating variant prioritization in tests of de novo mutation association. | Hu H et al. | — | 2016 | → |
| Whole Genome Sequencing as a Genetic Test for Autism Spectrum Disorder: From Bench to Bedside and then Back Again. | Szego MJ et al. | — | 2016 | → |
| 16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks. | Yang M et al. | — | 2015 | → |
| 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. | Yang M et al. | — | 2015 | → |
| 3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances. | Iourov IY et al. | — | 2015 | → |
| A comparison of general and explicit delay cues to reinforcement for tangible-maintained challenging behaviour. | Hong ER et al. | — | 2015 | → |
| A comparison of genetically matched cell lines reveals the equivalence of human iPSCs and ESCs. | Choi J et al. | — | 2015 | → |
| A decade from discovery to therapy: Lingo-1, the dark horse in neurological and psychiatric disorders. | Andrews JL et al. | — | 2015 | → |
| A decade of structural variants: description, history and methods to detect structural variation. | Escaramís G et al. | — | 2015 | → |
| Advancing parental age and autism: multifactorial pathways. | Lee BK et al. | — | 2015 | → |
| Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility. | Bacchelli E et al. | — | 2015 | → |
| Ankrd11 is a chromatin regulator involved in autism that is essential for neural development. | Gallagher D et al. | — | 2015 | → |
| A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. | Migliavacca E et al. | — | 2015 | → |
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| Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. | Walz K et al. | — | 2015 | → |
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| Comprehensive Analysis of the 16p11.2 Deletion and Null Cntnap2 Mouse Models of Autism Spectrum Disorder. | Brunner D et al. | — | 2015 | → |
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| Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. | Torrico B et al. | — | 2015 | → |
| Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. | Warnica W et al. | — | 2015 | → |
| Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers. | Vishweswaraiah S et al. | — | 2015 | → |
| Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma. | Awadalla MS et al. | — | 2015 | → |
| Dental caries experience and periodontal treatment needs of children with autistic spectrum disorder. | Fakroon S et al. | — | 2015 | → |
| Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. | Gamsiz ED et al. | — | 2015 | → |
| Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I | Sinai L et al. | — | 2015 | → |
| Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse. | Taylor A et al. | — | 2015 | → |
| Duplication Xp11.22-p14 in females: does X-inactivation help in assessing their significance? | Evers C et al. | — | 2015 | → |
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| Epileptic syndromes: From clinic to genetic. | Tafakhori A et al. | — | 2015 | → |
| First glimpses of the neurobiology of autism spectrum disorder. | Sanders SJ | — | 2015 | → |
| FoxP1 orchestration of ASD-relevant signaling pathways in the striatum. | Araujo DJ et al. | — | 2015 | → |
| Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. | Ockeloen CW et al. | — | 2015 | → |
| Gene hunting in autism spectrum disorder: on the path to precision medicine. | Geschwind DH et al. | — | 2015 | → |
| Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders. | Kim YS et al. | — | 2015 | → |
| Genetic Mapping in Mice Reveals the Involvement of Pcdh9 in Long-Term Social and Object Recognition and Sensorimotor Development. | Bruining H et al. | — | 2015 | → |
| Genetics and genomics of autism spectrum disorder: embracing complexity. | De Rubeis S et al. | — | 2015 | → |
| Genetics of Autism Spectrum Disorder: Current Status and Possible Clinical Applications. | Yoo H | — | 2015 | → |
| Genome-wide analysis identifies a role for common copy number variants in specific language impairment. | Simpson NH et al. | — | 2015 | → |
| Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia. | Naseer MI et al. | — | 2015 | → |
| Genome-wide association study of copy number variations (CNVs) with opioid dependence. | Li D et al. | — | 2015 | → |
| Genome-Wide Study of Structural Variants in Bovine Holstein, Montbéliarde and Normande Dairy Breeds. | Boussaha M et al. | — | 2015 | → |
| Genomic imbalances in pediatric patients with chronic kidney disease. | Verbitsky M et al. | — | 2015 | → |
| Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization. | Veerappa AM et al. | — | 2015 | → |
| GROM-RD: resolving genomic biases to improve read depth detection of copy number variants. | Smith SD et al. | — | 2015 | → |
| Histone modifications controlling native and induced neural stem cell identity. | Broccoli V et al. | — | 2015 | → |
| Immune mediators in the brain and peripheral tissues in autism spectrum disorder. | Estes ML et al. | — | 2015 | → |
| Immunohistochemical localization of DPP10 in rat brain supports the existence of a Kv4/KChIP/DPPL ternary complex in neurons. | Wang WC et al. | — | 2015 | → |
| Increased female autosomal burden of rare copy number variants in human populations and in autism families. | Desachy G et al. | — | 2015 | → |
| Inherited 15q24 microdeletion syndrome in twins and their father with phenotypic variability. | Samuelsson L et al. | — | 2015 | → |
| Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. | Sanders SJ et al. | — | 2015 | → |
| Intelligence May Moderate the Cognitive Profile of Patients with ASD. | Rommelse N et al. | — | 2015 | → |
| In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages. | Yang M et al. | — | 2015 | → |
| Kv4.2 and accessory dipeptidyl peptidase-like protein 10 (DPP10) subunit preferentially form a 4:2 (Kv4.2:DPP10) channel complex. | Kitazawa M et al. | — | 2015 | → |
| Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements. | Poot M et al. | — | 2015 | → |
| Meta-Analysis of Gene Expression in Autism Spectrum Disorder. | Ch'ng C et al. | — | 2015 | → |
| Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation. | Addis L et al. | — | 2015 | → |
| Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. | Griesi-Oliveira K et al. | — | 2015 | → |
| Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications. | Hudac CM et al. | — | 2015 | → |
| Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. | Kopp N et al. | — | 2015 | → |
| Neuroligin 1 modulates striatal glutamatergic neurotransmission in a pathway and NMDAR subunit-specific manner. | Espinosa F et al. | — | 2015 | → |
| Performance of case-control rare copy number variation annotation in classification of autism. | Engchuan W et al. | — | 2015 | → |
| Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment. | Harony-Nicolas H et al. | — | 2015 | → |
| Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder. | Mullegama SV et al. | — | 2015 | → |
| Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. | Chaudhry A et al. | — | 2015 | → |
| Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families. | Frazier TW et al. | — | 2015 | → |
| Recent advances in the genetics of autism spectrum disorder. | De Rubeis S et al. | — | 2015 | → |
| Schizophrenia Related Variants in CACNA1C also Confer Risk of Autism. | Li J et al. | — | 2015 | → |
| SHANK1 and autism spectrum disorders. | Gong X et al. | — | 2015 | → |
| SHANK Mutations May Disorder Brain Development. | Poot M | — | 2015 | → |
| Shared Pathways Among Autism Candidate Genes Determined by Co-expression Network Analysis of the Developing Human Brain Transcriptome. | Mahfouz A et al. | — | 2015 | → |
| Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. | Lin GN et al. | — | 2015 | → |
| Synergistic interactions between Drosophila orthologues of genes spanned by de novo human CNVs support multiple-hit models of autism. | Grice SJ et al. | — | 2015 | → |
| The complex genetics in autism spectrum disorders. | Hua R et al. | — | 2015 | → |
| The emerging picture of autism spectrum disorder: genetics and pathology. | Chen JA et al. | — | 2015 | → |
| The genetic architecture of autism spectrum disorders (ASDs) and the potential importance of common regulatory genetic variants. | Saffen D | — | 2015 | → |
| The genetics of neuropsychiatric diseases: looking in and beyond the exome. | Heinzen EL et al. | — | 2015 | → |
| The impact of human copy number variation on gene expression. | Gamazon ER et al. | — | 2015 | → |
| The molecular genetic architecture of attention deficit hyperactivity disorder. | Hawi Z et al. | — | 2015 | → |
| The Purkinje neuron: A central orchestrator of cerebellar neurogenesis. | Fleming J et al. | — | 2015 | → |
| The Use of Induced Pluripotent Stem Cell Technology to Advance Autism Research and Treatment. | Acab A et al. | — | 2015 | → |
| Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice. | Uppal N et al. | — | 2015 | → |
| Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes. | Woodbury-Smith M et al. | — | 2015 | → |
| Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes. | Chapman NH et al. | — | 2015 | → |
| Whole-genome sequencing of quartet families with autism spectrum disorder. | Yuen RK et al. | — | 2015 | → |
| ZNF804A Transcriptional Networks in Differentiating Neurons Derived from Induced Pluripotent Stem Cells of Human Origin. | Chen J et al. | — | 2015 | → |
| Abnormal emotional learning in a rat model of autism exposed to valproic acid in utero. | Banerjee A et al. | — | 2014 | → |
| A candidate gene association study further corroborates involvement of contactin genes in autism. | Poot M | — | 2014 | → |
| A case with a ring chromosome 13 in a cohort of 203 children with non-syndromic autism and review of the cytogenetic literature. | Charalsawadi C et al. | — | 2014 | → |
| A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2. | Okamoto N et al. | — | 2014 | → |
| A de novo convergence of autism genetics and molecular neuroscience. | Krumm N et al. | — | 2014 | → |
| A de novo genome assembly algorithm for repeats and nonrepeats. | Lian S 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 familial heterozygous null mutation of MET in autism spectrum disorder. | Lambert N et al. | — | 2014 | → |
| A genome-wide assessment of the role of untagged copy number variants in type 1 diabetes. | Zanda M et al. | — | 2014 | → |
| A genome-wide association study of clinical symptoms of dissociation in a trauma-exposed sample. | Wolf EJ 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 | → |
| An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder. | Cappi C et al. | — | 2014 | → |
| A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. | Kolevzon A et al. | — | 2014 | → |
| A review of genomic data warehousing systems. | Triplet T 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 | → |
| Autism-associated gene Dlgap2 mutant mice demonstrate exacerbated aggressive behaviors and orbitofrontal cortex deficits. | Jiang-Xie LF et al. | — | 2014 | → |
| Autism's cancer connection: the anti-proliferation hypothesis and why it may matter. | Ward CS | — | 2014 | → |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME 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 | → |
| Chromatin-bound RNA and the neurobiology of psychiatric disease. | Tushir JS 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 variant at 16p11.2 conferring risk of psychosis. | Steinberg S et al. | — | 2014 | → |
| Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. | Stray-Pedersen A et al. | — | 2014 | → |
| Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. | Pinto D 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 and autism: new insights and clinical implications. | Chung BH et al. | — | 2014 | → |
| Copy number variation in Han Chinese individuals with autism spectrum disorder. | Gazzellone MJ et al. | — | 2014 | → |
| Copy number variations and human genetic disease. | Mikhail FM | — | 2014 | → |
| Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression. | Veerappa AM et al. | — | 2014 | → |
| Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. | Brand H 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 | → |
| DPP6 domains responsible for its localization and function. | Lin L et al. | — | 2014 | → |
| DPP6 gene disruption in a family with Gilles de la Tourette syndrome. | Prontera P et al. | — | 2014 | → |
| Epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link? | Lo-Castro A et al. | — | 2014 | → |
| Etiologies underlying sex differences in Autism Spectrum Disorders. | Schaafsma SM et al. | — | 2014 | → |
| Etiology of Obesity Over the Life Span: Ecological and Genetic Highlights from Asian Countries. | Chong PN et al. | — | 2014 | → |
| Evolutionary conservation in genes underlying human psychiatric disorders. | Ogawa LM et al. | — | 2014 | → |
| Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. | Kenny EM et al. | — | 2014 | → |
| Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. | Lee H et al. | — | 2014 | → |
| Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. | Toma C et al. | — | 2014 | → |
| Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders. | Cukier HN et al. | — | 2014 | → |
| Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics. | Veerappa AM et al. | — | 2014 | → |
| Gene × Environment interactions in autism spectrum disorders: role of epigenetic mechanisms. | Tordjman S et al. | — | 2014 | → |
| Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1. | Germain ND 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 significant localization for working and spatial memory: Identifying genes for psychosis using models of cognition. | Knowles EE et al. | — | 2014 | → |
| Genomic and genetic aspects of autism spectrum disorder. | Liu X et al. | — | 2014 | → |
| Glutamatergic candidate genes in autism spectrum disorder: an overview. | Chiocchetti AG et al. | — | 2014 | → |
| Heat shock alters the expression of schizophrenia and autism candidate genes in an induced pluripotent stem cell model of the human telencephalon. | Lin M 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 | → |
| Interaction of neurodevelopmental pathways and synaptic plasticity in mental retardation, autism spectrum disorder and schizophrenia: implications for psychiatry. | Waltereit R et al. | — | 2014 | → |
| Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. | Moreira DP et al. | — | 2014 | → |
| Linking neocortical, cognitive, and genetic variability in autism with alterations of brain plasticity: the Trigger-Threshold-Target model. | Mottron L et al. | — | 2014 | → |
| Mapping breakpoints of a familial chromosome insertion (18,7) (q22.1; q36.2q21.11) to DPP6 and CACNA2D1 genes in an azoospermic male. | Li L et al. | — | 2014 | → |
| Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. | Leblond CS et al. | — | 2014 | → |
| Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. | Wong CC et al. | — | 2014 | → |
| Modulatory mechanisms and multiple functions of somatodendritic A-type K (+) channel auxiliary subunits. | Jerng HH et al. | — | 2014 | → |
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| Neonatal genome-wide methylation patterns in relation to birth weight in the Norwegian Mother and Child Cohort. | Engel SM et al. | — | 2014 | → |
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| Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation. | Blake J et al. | — | 2014 | → |
| Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus. | Kodama S et al. | — | 2014 | → |
| SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. | Bowton E et al. | — | 2014 | → |
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| The developmental pattern of the RAS/RAF/Erk1/2 pathway in the BTBR autism mouse model. | Yin A et al. | — | 2014 | → |
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| Additional evidence to support the role of the 20q13.33 region in susceptibility to autism. | Mosca-Boidron AL et al. | — | 2013 | → |
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| A high-resolution enhancer atlas of the developing telencephalon. | Visel A et al. | — | 2013 | → |
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| Altered social behaviours in neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders. | Grayton HM et al. | — | 2013 | → |
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| An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. | Cheng Y et al. | — | 2013 | → |
| A new TASK for Dipeptidyl Peptidase-like Protein 6. | Nadin BM et al. | — | 2013 | → |
| Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders. | Wiśniowiecka-Kowalnik B et al. | — | 2013 | → |
| Assessment of infantile mineral imbalances in autism spectrum disorders (ASDs). | Yasuda H et al. | — | 2013 | → |
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| Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. | Sajan SA et al. | — | 2013 | → |
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| Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. | Aldinger KA et al. | — | 2013 | → |
| Child development and structural variation in the human genome. | Zhang Y et al. | — | 2013 | → |
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| Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders. | Chien WH et al. | — | 2013 | → |
| Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. | Handrigan GR et al. | — | 2013 | → |
| De novo copy number variations in cloned dogs from the same nuclear donor. | Jung SH et al. | — | 2013 | → |
| Dense-map genome scan for dyslexia supports loci at 4q13, 16p12, 17q22; suggests novel locus at 7q36. | Field LL et al. | — | 2013 | → |
| Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. | Jiang YH et al. | — | 2013 | → |
| Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders. | Nagamani SC et al. | — | 2013 | → |
| Detection of selective sweeps in cattle using genome-wide SNP data. | Ramey HR et al. | — | 2013 | → |
| Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2. | Wöhr M et al. | — | 2013 | → |
| Diametric gene-dosage effects as windows into neurogenetic architecture. | Crespi B | — | 2013 | → |
| Distribution of disease-associated copy number variants across distinct disorders of cognitive development. | Pescosolido MF et al. | — | 2013 | → |
| Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? | Amiet C et al. | — | 2013 | → |
| DPP6 as a candidate gene for neuroleptic-induced tardive dyskinesia. | Tanaka S et al. | — | 2013 | → |
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| Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. | Newbury DF et al. | — | 2013 | → |
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| Evaluating rare variants in complex disorders using next-generation sequencing. | Ezewudo M et al. | — | 2013 | → |
| Family-based genome-wide copy number scan identifies five new genes of dyslexia involved in dendritic spinal plasticity. | Veerappa AM et al. | — | 2013 | → |
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| Identification of candidate intergenic risk loci in autism spectrum disorder. | Walker S et al. | — | 2013 | → |
| Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. | Matsunami N et al. | — | 2013 | → |
| Imaging and genetics of language and cognition in pediatric epilepsy. | Addis L et al. | — | 2013 | → |
| Insights on the functional impact of microRNAs present in autism-associated copy number variants. | Vaishnavi V et al. | — | 2013 | → |
| Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. | Liu Y et al. | — | 2013 | → |
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| Mapping mammalian synaptic connectivity. | Yook C et al. | — | 2013 | → |
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| Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. | Chen X et al. | — | 2013 | → |
| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. | Béna F et al. | — | 2013 | → |
| Mouse models of mutations and variations in autism spectrum disorder-associated genes: mice expressing Caps2/Cadps2 copy number and alternative splicing variants. | Sadakata T et al. | — | 2013 | → |
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| Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations. | Lo-Castro A et al. | — | 2013 | → |
| Neuronal connectivity as a convergent target of gene × environment interactions that confer risk for Autism Spectrum Disorders. | Stamou M et al. | — | 2013 | → |
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| NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series - further understanding of the relevance of NRXN1 to neurodevelopmental disorders. | Curran S et al. | — | 2013 | → |
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| Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. | Costain G et al. | — | 2013 | → |
| Pathway-based outlier method reveals heterogeneous genomic structure of autism in blood transcriptome. | Campbell MG et al. | — | 2013 | → |
| PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders. | Tsai EA et al. | — | 2013 | → |
| Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. | Kong SW et al. | — | 2013 | → |
| Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. | Boccuto L et al. | — | 2013 | → |
| Protocadherin α (PCDHA) as a novel susceptibility gene for autism. | Anitha A et al. | — | 2013 | → |
| Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC et al. | — | 2013 | → |
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| The prion protein modulates A-type K+ currents mediated by Kv4.2 complexes through dipeptidyl aminopeptidase-like protein 6. | Mercer RC et al. | — | 2013 | → |
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| Transcriptomic analysis of genetically defined autism candidate genes reveals common mechanisms of action. | Lanz TA et al. | — | 2013 | → |
| Unexpected association of the "inhibitory" neuroligin 2 with excitatory PSD95 in neuropathic pain. | Dolique T et al. | — | 2013 | → |
| Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases. | Poot M et al. | — | 2013 | → |
| XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. | Piton A et al. | — | 2013 | → |
| A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. | Zufferey F et al. | — | 2012 | → |
| A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism. | Celestino-Soper PB et al. | — | 2012 | → |
| A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. | Griesi-Oliveira K et al. | — | 2012 | → |
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| Animal models of psychiatric disorders that reflect human copy number variation. | Nomura J et al. | — | 2012 | → |
| An overview of mongenic and syndromic obesities in humans. | Chung WK | — | 2012 | → |
| A review of the evidence for the canonical Wnt pathway in autism spectrum disorders. | Kalkman HO | — | 2012 | → |
| Association testing of copy number variants in schizophrenia and autism spectrum disorders. | Crespi BJ et al. | — | 2012 | → |
| Atypical activation during the Embedded Figures Task as a functional magnetic resonance imaging endophenotype of autism. | Spencer MD et al. | — | 2012 | → |
| Augmentation of Kv4.2-encoded currents by accessory dipeptidyl peptidase 6 and 10 subunits reflects selective cell surface Kv4.2 protein stabilization. | Foeger NC et al. | — | 2012 | → |
| Autism-associated promoter variant in MET impacts functional and structural brain networks. | Rudie JD et al. | — | 2012 | → |
| Autism genetics: searching for specificity and convergence. | Berg JM et al. | — | 2012 | → |
| Autism in association with Triple X syndrome. | Ali SI et al. | — | 2012 | → |
| AutismKB: an evidence-based knowledgebase of autism genetics. | Xu LM et al. | — | 2012 | → |
| Autism risk factors: genes, environment, and gene-environment interactions. | Chaste P et al. | — | 2012 | → |
| Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity. | Khalak HG et al. | — | 2012 | → |
| Behavior genetics and postgenomics. | Charney E | — | 2012 | → |
| Behavioural genetics of childhood disorders. | Freitag CM et al. | — | 2012 | → |
| Brain IL-6 elevation causes neuronal circuitry imbalances and mediates autism-like behaviors. | Wei H et al. | — | 2012 | → |
| Chapter 6: Structural variation and medical genomics. | Raphael BJ | — | 2012 | → |
| Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. | Kong SW et al. | — | 2012 | → |
| Characterization of protocadherin-1 expression in primary bronchial epithelial cells: association with epithelial cell differentiation. | Koning H et al. | — | 2012 | → |
| Chromosome 15q24 microdeletion syndrome. | Magoulas PL et al. | — | 2012 | → |
| Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. | Costain G et al. | — | 2012 | → |
| CNVs: harbingers of a rare variant revolution in psychiatric genetics. | Malhotra D et al. | — | 2012 | → |
| Common genetic variants, acting additively, are a major source of risk for autism. | Klei L et al. | — | 2012 | → |
| Complex autism spectrum disorder in a patient with a 17q12 microduplication. | Brandt T et al. | — | 2012 | → |
| Copy number variations in neurodevelopmental disorders. | Grayton HM et al. | — | 2012 | → |
| Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders. | Celestino-Soper PB et al. | — | 2012 | → |
| De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining. | Arlt MF et al. | — | 2012 | → |
| De novo gene disruptions in children on the autistic spectrum. | Iossifov I et al. | — | 2012 | → |
| De novo mutations in human genetic disease. | Veltman JA et al. | — | 2012 | → |
| Detection and characterization of copy number variation in autism spectrum disorder. | Marshall CR et al. | — | 2012 | → |
| Developmental psychopathology: the role of structural variation in the genome. | Gill M | — | 2012 | → |
| Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. | Griswold AJ et al. | — | 2012 | → |
| Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families. | Bernier R et al. | — | 2012 | → |
| Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. | Hedges DJ et al. | — | 2012 | → |
| Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. | Mondal K et al. | — | 2012 | → |
| Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. | Sacharow S et al. | — | 2012 | → |
| Fast detection of de novo copy number variants from SNP arrays for case-parent trios. | Scharpf RB et al. | — | 2012 | → |
| Further clinical and molecular delineation of the 15q24 microdeletion syndrome. | Mefford HC et al. | — | 2012 | → |
| Genes associated with autism spectrum disorder. | Li X et al. | — | 2012 | → |
| Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. | Leblond CS et al. | — | 2012 | → |
| Genetic architecture in autism spectrum disorder. | Devlin B et al. | — | 2012 | → |
| Genetic architectures of psychiatric disorders: the emerging picture and its implications. | Sullivan PF et al. | — | 2012 | → |
| Genetic copy number variation and general cognitive ability. | MacLeod AK et al. | — | 2012 | → |
| Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. | Williams NM et al. | — | 2012 | → |
| Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders. | Luo R et al. | — | 2012 | → |
| Genomics, intellectual disability, and autism. | Mefford HC et al. | — | 2012 | → |
| Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms. | Isrie M et al. | — | 2012 | → |
| High-resolution whole-genome analysis of skull base chordomas implicates FHIT loss in chordoma pathogenesis. | Diaz RJ et al. | — | 2012 | → |
| Human-specific CpG "beacons" identify loci associated with human-specific traits and disease. | Bell CG et al. | — | 2012 | → |
| Human-specific histone methylation signatures at transcription start sites in prefrontal neurons. | Shulha HP et al. | — | 2012 | → |
| Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. | Van Den Bossche MJ et al. | — | 2012 | → |
| Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder. | Steinberg KM et al. | — | 2012 | → |
| Identification of two inherited copy number variants in a male with autism supports two-hit and compound heterozygosity models of autism. | Gau SS et al. | — | 2012 | → |
| Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions. | Ameis SH et al. | — | 2012 | → |
| Individual common variants exert weak effects on the risk for autism spectrum disorders. | Anney R et al. | — | 2012 | → |
| Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies. | Willemsen MH et al. | — | 2012 | → |
| Is there a core neuropsychiatric phenotype in 22q11.2 deletion syndrome? | Baker K et al. | — | 2012 | → |
| Lack of association between parental ABO blood type and autism spectrum disorders. | Wu ZT et al. | — | 2012 | → |
| Lack of evidence for neonatal misoprostol neurodevelopmental toxicity in C57BL6/J mice. | Koenig CM et al. | — | 2012 | → |
| Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disorders. | Pescosolido MF et al. | — | 2012 | → |
| Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus. | Dombret C et al. | — | 2012 | → |
| Male gender bias in autism and pediatric autoimmunity. | Becker KG | — | 2012 | → |
| Microdeletion and microduplication syndromes. | Vissers LE et al. | — | 2012 | → |
| Microdeletions in 16p11.2 and 13q31.3 associated with developmental delay and generalized overgrowth. | George AM et al. | — | 2012 | → |
| MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction. | Xu B et al. | — | 2012 | → |
| MicroRNAs: a light into the "black box" of neuropediatric diseases? | Omran A et al. | — | 2012 | → |
| Mining and modeling human genetics for autism therapeutics. | Smith DG et al. | — | 2012 | → |
| Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions. | Qiu S et al. | — | 2012 | → |
| Mouse Models of 22q11.2-Associated Autism Spectrum Disorder. | Hiroi N et al. | — | 2012 | → |
| Myelodysplastic syndrome in a child with 15q24 deletion syndrome. | Narumi Y et al. | — | 2012 | → |
| No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis. | Dong S et al. | — | 2012 | → |
| Online resources for genomic structural variation. | Sneddon TP et al. | — | 2012 | → |
| Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. | Schaaf CP et al. | — | 2012 | → |
| Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disorders. | Kalkman HO | — | 2012 | → |
| Quantitative autism traits in first degree relatives: evidence for the broader autism phenotype in fathers, but not in mothers and siblings. | De la Marche W et al. | — | 2012 | → |
| Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? | Van Den Bossche MJ et al. | — | 2012 | → |
| Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. | Fernandez TV et al. | — | 2012 | → |
| Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. | Silversides CK et al. | — | 2012 | → |
| Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK et al. | — | 2012 | → |
| Rare genomic deletions and duplications and their role in neurodevelopmental disorders. | Glessner JT et al. | — | 2012 | → |
| Rare variants in complex traits: novel identification strategies and the role of de novo mutations. | Jouan L et al. | — | 2012 | → |
| Reducing system noise in copy number data using principal components of self-self hybridizations. | Lee YH et al. | — | 2012 | → |
| RNA-binding proteins involved in RNA localization and their implications in neuronal diseases. | Tolino M et al. | — | 2012 | → |
| Role of the ubiquitin-proteasome system in nervous system function and disease: using C. elegans as a dissecting tool. | Baptista MS et al. | — | 2012 | → |
| Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. | Talkowski ME et al. | — | 2012 | → |
| Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1. | Zweier C | — | 2012 | → |
| Sex differences in children with autism spectrum disorder identified within a high-risk infant cohort. | Zwaigenbaum L et al. | — | 2012 | → |
| SHANK1 Deletions in Males with Autism Spectrum Disorder. | Sato D et al. | — | 2012 | → |
| Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. | Simons Vip Consortium | — | 2012 | → |
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| Social, communication, and cortical structural impairments in Epac2-deficient mice. | Srivastava DP et al. | — | 2012 | → |
| Structural, genetic, and functional signatures of disordered neuro-immunological development in autism spectrum disorder. | Saxena V et al. | — | 2012 | → |
| The application of gene co-expression network reconstruction based on CNVs and gene expression microarray data in breast cancer. | Xu Y et al. | — | 2012 | → |
| The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families. | Prandini P et al. | — | 2012 | → |
| The DISC1 promoter: characterization and regulation by FOXP2. | Walker RM et al. | — | 2012 | → |
| The genetic variability and commonality of neurodevelopmental disease. | Coe BP et al. | — | 2012 | → |
| The Long and the Short of it: Gene and Environment Interactions During Early Cortical Development and Consequences for Long-Term Neurological Disease. | Stolp H et al. | — | 2012 | → |
| The role of neurexins in schizophrenia and autistic spectrum disorder. | Reichelt AC et al. | — | 2012 | → |
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| What is complex about complex disorders? | Mitchell KJ | — | 2012 | → |
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| Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. | Blaker-Lee A et al. | — | 2012 | → |
| 2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders. | Liu X et al. | — | 2011 | → |
| A brain region-specific predictive gene map for autism derived by profiling a reference gene set. | Kumar A et al. | — | 2011 | → |
| Absence of preference for social novelty and increased grooming in integrin β3 knockout mice: initial studies and future directions. | Carter MD et al. | — | 2011 | → |
| A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population. | Yue W et al. | — | 2011 | → |
| A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. | Pagnamenta AT et al. | — | 2011 | → |
| Age- and gender-dependent obesity in individuals with 16p11.2 deletion. | Yu Y et al. | — | 2011 | → |
| A genotype resource for postmortem brain samples from the Autism Tissue Program. | Wintle RF et al. | — | 2011 | → |
| An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature. | L Ng IS et al. | — | 2011 | → |
| An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus. | Etherton MR et al. | — | 2011 | → |
| An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. | Kaminsky EB et al. | — | 2011 | → |
| A new synaptic player leading to autism risk: Met receptor tyrosine kinase. | Judson MC et al. | — | 2011 | → |
| Animal model integration to AutDB, a genetic database for autism. | Kumar A et al. | — | 2011 | → |
| ANKRD11 gene deletion in a 17-year-old male. | Youngs EL et al. | — | 2011 | → |
| Annual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders. | Robertson HR et al. | — | 2011 | → |
| A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism. | Hussman JP et al. | — | 2011 | → |
| Another tool in the genome-wide association study arsenal: population-based detection of somatic gene conversion. | Deardorff MA et al. | — | 2011 | → |
| Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation. | Rooms L et al. | — | 2011 | → |
| Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study. | Marenne G et al. | — | 2011 | → |
| Autism: a "critical period" disorder? | LeBlanc JJ et al. | — | 2011 | → |
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| Autism in two females with duplications involving Xp11.22-p11.23. | Edens AC et al. | — | 2011 | → |
| Autistic traits below the clinical threshold: re-examining the broader autism phenotype in the 21st century. | Sucksmith E et al. | — | 2011 | → |
| Behavioral profiles of mouse models for autism spectrum disorders. | Ey E et al. | — | 2011 | → |
| Bidirectional regulation of dendritic voltage-gated potassium channels by the fragile X mental retardation protein. | Lee HY et al. | — | 2011 | → |
| Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects. | Breckpot J et al. | — | 2011 | → |
| Characterization of copy number-stable regions in the human genome. | Johansson AC et al. | — | 2011 | → |
| Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders. | Aziz A et al. | — | 2011 | → |
| Circuit-specific intracortical hyperconnectivity in mice with deletion of the autism-associated Met receptor tyrosine kinase. | Qiu S et al. | — | 2011 | → |
| Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter). | Mizuno S et al. | — | 2011 | → |
| Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. | Mikhail FM et al. | — | 2011 | → |
| CNV-WebStore: online CNV analysis, storage and interpretation. | Vandeweyer G et al. | — | 2011 | → |
| Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2). | Granot-Hershkovitz E et al. | — | 2011 | → |
| Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters. | Harrison V et al. | — | 2011 | → |
| Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. | Pinto D et al. | — | 2011 | → |
| Contactin 4 as an autism susceptibility locus. | Cottrell CE et al. | — | 2011 | → |
| Copy number variants: a new molecular frontier in clinical psychiatry. | Moreno-De-Luca D et al. | — | 2011 | → |
| Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees. | Melhem N et al. | — | 2011 | → |
| Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. | Salyakina D et al. | — | 2011 | → |
| Copy number variations and primary open-angle glaucoma. | Davis LK et al. | — | 2011 | → |
| Development of patient-specific neurons in schizophrenia using induced pluripotent stem cells. | Pedrosa E et al. | — | 2011 | → |
| DIA1R is an X-linked gene related to Deleted In Autism-1. | Aziz A et al. | — | 2011 | → |
| Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. | Poot M et al. | — | 2011 | → |
| Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. | Horev G et al. | — | 2011 | → |
| DPP6 establishes the A-type K(+) current gradient critical for the regulation of dendritic excitability in CA1 hippocampal neurons. | Sun W et al. | — | 2011 | → |
| Emerging themes in GABAergic synapse development. | Kuzirian MS et al. | — | 2011 | → |
| Enhanced polyubiquitination of Shank3 and NMDA receptor in a mouse model of autism. | Bangash MA et al. | — | 2011 | → |
| Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. | O'Roak BJ et al. | — | 2011 | → |
| Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. | Gregor A et al. | — | 2011 | → |
| Expression profiling of autism candidate genes during human brain development implicates central immune signaling pathways. | Ziats MN et al. | — | 2011 | → |
| Facial phenotypes in subgroups of prepubertal boys with autism spectrum disorders are correlated with clinical phenotypes. | Aldridge K et al. | — | 2011 | → |
| Fine mapping of Xq11.1-q21.33 and mutation screening of RPS6KA6, ZNF711, ACSL4, DLG3, and IL1RAPL2 for autism spectrum disorders (ASD). | Kantojärvi K et al. | — | 2011 | → |
| Following the genes: a framework for animal modeling of psychiatric disorders. | Mitchell KJ et al. | — | 2011 | → |
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| Genetic basis of autism: is there a way forward? | Eapen V | — | 2011 | → |
| Genetic predisposition in degenerative lumbar scoliosis due to the copy number variation. | Shin JH et al. | — | 2011 | → |
| Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes. | Mozhui K et al. | — | 2011 | → |
| Genetic risk in autism: new associations and clinical testing. | Freitag CM | — | 2011 | → |
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| Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disorders. | Rossignol E | — | 2011 | → |
| Genetics of autism spectrum disorders. | Geschwind DH | — | 2011 | → |
| Genetics of childhood obesity. | Zhao J et al. | — | 2011 | → |
| Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. | Hochstenbach R et al. | — | 2011 | → |
| Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. | Elia J et al. | — | 2011 | → |
| Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. | Swaminathan S et al. | — | 2011 | → |
| Genomics and genetics in the biology of adaptation to exercise. | Bouchard C et al. | — | 2011 | → |
| Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome. | Fisch GS et al. | — | 2011 | → |
| Heredity in epilepsy: neurodevelopment, comorbidity, and the neurological trait. | Johnson MR et al. | — | 2011 | → |
| High frequencies of de novo CNVs in bipolar disorder and schizophrenia. | Malhotra D et al. | — | 2011 | → |
| Human copy number variation and complex genetic disease. | Girirajan S et al. | — | 2011 | → |
| Human PTCHD3 nulls: rare copy number and sequence variants suggest a non-essential gene. | Ghahramani Seno MM et al. | — | 2011 | → |
| Infantile zinc deficiency: association with autism spectrum disorders. | Yasuda H et al. | — | 2011 | → |
| Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. | El-Hattab AW et al. | — | 2011 | → |
| Links between genetics and pathophysiology in the autism spectrum disorders. | Holt R et al. | — | 2011 | → |
| MAOA, DBH, and SLC6A4 variants in CHARGE: a case-control study of autism spectrum disorders. | Tassone F et al. | — | 2011 | → |
| Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity. | Ciuladaitė Z et al. | — | 2011 | → |
| Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. | El-Hattab AW et al. | — | 2011 | → |
| Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. | Cukier HN et al. | — | 2011 | → |
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. | Jacquemont S et al. | — | 2011 | → |
| Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ et al. | — | 2011 | → |
| Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. | Sirmaci A et al. | — | 2011 | → |
| Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. | Crepel A et al. | — | 2011 | → |
| Neurexin-1 and frontal lobe white matter: an overlapping intermediate phenotype for schizophrenia and autism spectrum disorders. | Voineskos AN et al. | — | 2011 | → |
| New perspectives on rodent models of advanced paternal age: relevance to autism. | Foldi CJ et al. | — | 2011 | → |
| No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder. | Curran S et al. | — | 2011 | → |
| Non-clustered protocadherin. | Kim SY et al. | — | 2011 | → |
| Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism. | Vieland VJ et al. | — | 2011 | → |
| Oligonucleotide microarrays in constitutional genetic diagnosis. | Keren B et al. | — | 2011 | → |
| Phenotype mining in CNV carriers from a population cohort. | Pietiläinen OP et al. | — | 2011 | → |
| Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. | Chung BH et al. | — | 2011 | → |
| Planning a genome-wide association study: points to consider. | Hakonarson H et al. | — | 2011 | → |
| Population- and family-based studies associate the MTHFR gene with idiopathic autism in simplex families. | Liu X et al. | — | 2011 | → |
| Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies. | Grabrucker AM et al. | — | 2011 | → |
| Presenilin/γ-secretase regulates neurexin processing at synapses. | Saura CA et al. | — | 2011 | → |
| Progress in understanding autism: 2007-2010. | Rutter ML | — | 2011 | → |
| Protein interactome reveals converging molecular pathways among autism disorders. | Sakai Y et al. | — | 2011 | → |
| Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. | Lionel AC et al. | — | 2011 | → |
| Rare de novo and transmitted copy-number variation in autistic spectrum disorders. | Levy D et al. | — | 2011 | → |
| Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses. | Gilman SR et al. | — | 2011 | → |
| Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. | Nord AS et al. | — | 2011 | → |
| Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection. | Gokcumen O et al. | — | 2011 | → |
| Regulation of MET by FOXP2, genes implicated in higher cognitive dysfunction and autism risk. | Mukamel Z et al. | — | 2011 | → |
| Relationships between gene expression and brain wiring in the adult rodent brain. | French L et al. | — | 2011 | → |
| Relative burden of large CNVs on a range of neurodevelopmental phenotypes. | Girirajan S et al. | — | 2011 | → |
| Revealing the genetic basis of multiple sclerosis: are we there yet? | Baranzini SE | — | 2011 | → |
| Risk factors for autism: translating genomic discoveries into diagnostics. | Scherer SW et al. | — | 2011 | → |
| Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. | van Daalen E et al. | — | 2011 | → |
| Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV. | Okamoto N et al. | — | 2011 | → |
| Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3. | Wang X et al. | — | 2011 | → |
| Targeted treatments for fragile X syndrome. | Berry-Kravis E et al. | — | 2011 | → |
| Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model. | Hiramoto T et al. | — | 2011 | → |
| The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome? | Barge-Schaapveld DQ et al. | — | 2011 | → |
| The broader autism phenotype and its implications on the etiology and treatment of autism spectrum disorders. | Gerdts J et al. | — | 2011 | → |
| The Cerebral Palsy Demonstration Project: a multidimensional research approach to cerebral palsy. | Shevell M et al. | — | 2011 | → |
| The conundrums of understanding genetic risks for autism spectrum disorders. | State MW et al. | — | 2011 | → |
| The molecular genetics of autism spectrum disorders: genomic mechanisms, neuroimmunopathology, and clinical implications. | Guerra DJ | — | 2011 | → |
| The neurobiology of mouse models syntenic to human chromosome 15q. | Takumi T | — | 2011 | → |
| The neurochemical basis for the treatment of autism spectrum disorders and Fragile X Syndrome. | Hampson DR et al. | — | 2011 | → |
| The NeuroDevNet Autism Spectrum Disorders Demonstration Project. | Zwaigenbaum L et al. | — | 2011 | → |
| The ongoing dissection of the genetic architecture of autistic spectrum disorder. | Gillis RF et al. | — | 2011 | → |
| Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. | Ameur A et al. | — | 2011 | → |
| Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia. | Gauthier J et al. | — | 2011 | → |
| Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. | Celestino-Soper PB et al. | — | 2011 | → |
| Using case-parent trios to look for rare de novo genetic variants in adult-onset neurodegenerative diseases. | Pamphlett R et al. | — | 2011 | → |
| Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations. | Konyukh M et al. | — | 2011 | → |
| Why are autism spectrum conditions more prevalent in males? | Baron-Cohen S et al. | — | 2011 | → |