Association between microdeletion and microduplication at 16p11.2 and autism.
paper
Cited
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- Authors
- Weiss, Lauren A; Shen, Yiping; Korn, Joshua M; Arking, Dan E; Miller, David T; Fossdal, Ragnheidur; Saemundsen, Evald; Stefansson, Hreinn; Ferreira, Manuel A R; Green, Todd; Platt, Orah S; Ruderfer, Douglas M; Walsh, Christopher A; Altshuler, David; Chakravarti, Aravinda; Tanzi, Rudolph E; Stefansson, Kari; Santangelo, Susan L; Gusella, James F; Sklar, Pamela; Wu, Bai-Lin; Daly, Mark J; Autism Consortium
- Year
- 2008
- Journal
- The New England journal of medicine
- PMID
- 18184952
- DOI
- 10.1056/NEJMoa075974
BACKGROUND: Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role. METHODS: As a first component of a genomewide association study of families from the Autism Genetic Resource Exchange (AGRE), we used two novel algorithms to search for recurrent copy-number variations in genotype data from 751 multiplex families with autism. Specific recurrent de novo events were further evaluated in clinical-testing data from Children's Hospital Boston and in a large population study in Iceland. RESULTS: Among the AGRE families, we observed five instances of a de novo deletion of 593 kb on chromosome 16p11.2. Using comparative genomic hybridization, we observed the identical deletion in 5 of 512 children referred to Children's Hospital Boston for developmental delay, mental retardation, or suspected autism spectrum disorder, as well as in 3 of 299 persons with autism in an Icelandic population; the deletion was also carried by 2 of 18,834 unscreened Icelandic control subjects. The reciprocal duplication of this region occurred in 7 affected persons in AGRE families and 4 of the 512 children from Children's Hospital Boston. The duplication also appeared to be a high-penetrance risk factor. CONCLUSIONS: We have identified a novel, recurrent microdeletion and a reciprocal microduplication that carry substantial susceptibility to autism and appear to account for approximately 1% of cases. We did not identify other regions with similar aggregations of large de novo mutations.
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| Transient hypogammaglobulinemia of infancy may be associated with reduced switched memory B cells and del (16) (p11.2p12). | Ito T et al. | — | 2021 | → |
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| 16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development. | Roth JG et al. | — | 2020 | → |
| 16p11 Duplication Disrupts Hippocampal-Orbitofrontal-Amygdala Connectivity, Revealing a Neural Circuit Endophenotype for Schizophrenia. | Bristow GC et al. | — | 2020 | → |
| A Bibliometric Insight of Genetic Factors in ASD: Emerging Trends and New Developments. | Wang K et al. | — | 2020 | → |
| A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report. | Karolak JA et al. | — | 2020 | → |
| A framework for an evidence-based gene list relevant to autism spectrum disorder. | Schaaf CP et al. | — | 2020 | → |
| Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening. | Lan L et al. | — | 2020 | → |
| Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements. | Satkin NB et al. | — | 2020 | → |
| A standardized social preference protocol for measuring social deficits in mouse models of autism. | Rein B et al. | — | 2020 | → |
| Autism Spectrum Disorder and Childhood Apraxia of Speech: Early Language-Related Hallmarks across Structural MRI Study. | Conti E et al. | — | 2020 | → |
| Brain-Enriched Coding and Long Non-coding RNA Genes Are Overrepresented in Recurrent Neurodevelopmental Disorder CNVs. | Alinejad-Rokny H et al. | — | 2020 | → |
| Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature. | Lengyel A et al. | — | 2020 | → |
| Comprehensive Behavioral Phenotyping of a 16p11.2 Del Mouse Model for Neurodevelopmental Disorders. | Lynch JF et al. | — | 2020 | → |
| Conserved Tao Kinase Activity Regulates Dendritic Arborization, Cytoskeletal Dynamics, and Sensory Function in <i>Drosophila</i>. | Hu C et al. | — | 2020 | → |
| Control of cortical synapse development and plasticity by MET receptor tyrosine kinase, a genetic risk factor for autism. | Ma X et al. | — | 2020 | → |
| Control of craniofacial and brain development by Cullin3-RING ubiquitin ligases: Lessons from human disease genetics. | Asmar AJ et al. | — | 2020 | → |
| CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells. | Kizner V et al. | — | 2020 | → |
| Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. | Sønderby IE et al. | — | 2020 | → |
| Drug-responsive autism phenotypes in the 16p11.2 deletion mouse model: a central role for gene-environment interactions. | Mitchell EJ et al. | — | 2020 | → |
| Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. | Niestroj LM et al. | — | 2020 | → |
| Evaluation of chromosomal abnormalities and copy number variations in late trimester pregnancy using cordocentesis. | Cai M et al. | — | 2020 | → |
| Genetic and Environmental Influences on Lobar Brain Structures in Twins With Autism. | Hegarty JP et al. | — | 2020 | → |
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| Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways. | Hall A et al. | — | 2020 | → |
| Genomic Variation, Evolvability, and the Paradox of Mental Illness. | Gualtieri CT | — | 2020 | → |
| Gut neurotoxin p-cresol induces differential expression of GLUN2B and GLUN2A subunits of the NMDA receptor in the hippocampus and nucleus accumbens in healthy and audiogenic seizure-prone rats. | Tevzadze G et al. | — | 2020 | → |
| Identification of Gingivitis-Related Genes Across Human Tissues Based on the Summary Mendelian Randomization. | Zhang J et al. | — | 2020 | → |
| Increased <i>TBX6</i> gene dosages induce congenital cervical vertebral malformations in humans and mice. | Ren X et al. | — | 2020 | → |
| Lack of Sez6 Family Proteins Impairs Motor Functions, Short-Term Memory, and Cognitive Flexibility and Alters Dendritic Spine Properties. | Nash A et al. | — | 2020 | → |
| Language characterization in 16p11.2 deletion and duplication syndromes. | Kim SH et al. | — | 2020 | → |
| Lessons Learned from CNV Analysis of Major Birth Defects. | Hilger AC et al. | — | 2020 | → |
| Mapping and characterization of structural variation in 17,795 human genomes. | Abel HJ et al. | — | 2020 | → |
| Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers. | Xie H et al. | — | 2020 | → |
| Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review. | Stingl CS et al. | — | 2020 | → |
| Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders. | van der Werf IM et al. | — | 2020 | → |
| Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution. | Chu C et al. | — | 2020 | → |
| Population-Specific Genetic and Expression Differentiation in Europeans. | Jiang X et al. | — | 2020 | → |
| Population Structure, Stratification, and Introgression of Human Structural Variation. | Almarri MA et al. | — | 2020 | → |
| Psychotic symptoms in 16p11.2 copy-number variant carriers. | Jutla A et al. | — | 2020 | → |
| Rare genetic causes of complex kidney and urological diseases. | Groopman EE et al. | — | 2020 | → |
| Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature. | Oliva-Teles N et al. | — | 2020 | → |
| RKDOSCNV: A Local Kernel Density-Based Approach to the Detection of Copy Number Variations by Using Next-Generation Sequencing Data. | Liu G et al. | — | 2020 | → |
| Role of Neuroinflammation in Autism Spectrum Disorder and the Emergence of Brain Histaminergic System. Lessons Also for BPSD? | Eissa N et al. | — | 2020 | → |
| The Diverse Roles of TAO Kinases in Health and Diseases. | Fang CY et al. | — | 2020 | → |
| The transcription factor <i>Maz</i> is essential for normal eye development. | Medina-Martinez O et al. | — | 2020 | → |
| Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children. | Fetit R et al. | — | 2020 | → |
| 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements. | Lupski JR | — | 2019 | → |
| A comprehensive screening of copy number variability in dementia with Lewy bodies. | Kun-Rodrigues C et al. | — | 2019 | → |
| Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes. | Hsieh P et al. | — | 2019 | → |
| Altered sleep architecture, rapid eye movement sleep, and neural oscillation in a mouse model of human chromosome 16p11.2 microdeletion. | Lu HC et al. | — | 2019 | → |
| Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. | Richter M et al. | — | 2019 | → |
| Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder. | Schuch JB et al. | — | 2019 | → |
| An interaction-based model for neuropsychiatric features of copy-number variants. | Jensen M et al. | — | 2019 | → |
| Atypical neural variability in carriers of 16p11.2 copy number variants. | Al-Jawahiri R et al. | — | 2019 | → |
| Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome. | Roeben B et al. | — | 2019 | → |
| Autism Spectrum Disorder-Related Syndromes: Modeling with <i>Drosophila</i> and Rodents. | Ueoka I et al. | — | 2019 | → |
| Bi-allelic loss of function variants of <i>TBX6</i> causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis. | Otomo N et al. | — | 2019 | → |
| Chromosomal Aberrations in Pediatric Patients with Developmental Delay/Intellectual Disability: A Single-Center Clinical Investigation. | Hu T et al. | — | 2019 | → |
| Chromosomal Microarray Analysis in Children with Unexplained Developmental Delay/Intellectual Disability. | Arican P et al. | — | 2019 | → |
| Clinical, molecular genetics and therapeutic aspects of syndromic obesity. | Geets E et al. | — | 2019 | → |
| Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software. | Cameron DL et al. | — | 2019 | → |
| Detection of fetal duplication 16p11.2q12.1 by next-generation sequencing of maternal plasma and invasive diagnosis. | Chen M et al. | — | 2019 | → |
| Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations. | Cárdenas-de-la-Parra A et al. | — | 2019 | → |
| Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. | Feliciano P et al. | — | 2019 | → |
| Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. | Siu MT et al. | — | 2019 | → |
| Genetic and expression changes in TNF-α as a risk factor for rheumatoid arthritis pathogenesis in northeast India. | Das S et al. | — | 2019 | → |
| Genetic Causes and Modifiers of Autism Spectrum Disorder. | Rylaarsdam L et al. | — | 2019 | → |
| Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. | Walker RL et al. | — | 2019 | → |
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| Genetics of Obesity. | Kleinendorst L et al. | — | 2019 | → |
| Genome-Wide DNA Methylation Analysis Reveals Epigenetic Pattern of <i>SH2B1</i> in Chinese Monozygotic Twins Discordant for Autism Spectrum Disorder. | Liang S et al. | — | 2019 | → |
| Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma. | Egolf LE et al. | — | 2019 | → |
| Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome. | Kostopoulou E et al. | — | 2019 | → |
| Insights into genetics, human biology and disease gleaned from family based genomic studies. | Posey JE et al. | — | 2019 | → |
| Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. | Arbogast T et al. | — | 2019 | → |
| KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders. | Teng X et al. | — | 2019 | → |
| Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders. | Gantois I et al. | — | 2019 | → |
| New insights on synaptic dysfunction in neuropsychiatric disorders. | Lima Caldeira G et al. | — | 2019 | → |
| Next-Generation Sequencing in Autism Spectrum Disorder. | Sanders SJ | — | 2019 | → |
| Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. | D'Abate L et al. | — | 2019 | → |
| Prevalence of Non-Affective Psychoses in Individuals with Autism Spectrum Disorders: A Systematic Review. | De Giorgi R et al. | — | 2019 | → |
| Psychiatric disorders in children with 16p11.2 deletion and duplication. | Niarchou M et al. | — | 2019 | → |
| Quantitative gait assessment in children with 16p11.2 syndrome. | Goldman S et al. | — | 2019 | → |
| Rainer W. Guillery and the genetic analysis of brain development. | Walsh CA | — | 2019 | → |
| Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study. | Silva AI et al. | — | 2019 | → |
| Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers. | Hinkley LBN et al. | — | 2019 | → |
| Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap. | Gandal MJ et al. | — | 2019 | → |
| Submicroscopic aberrations of chromosome 16 in prenatal diagnosis. | Wu X et al. | — | 2019 | → |
| Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. | Bodkin JA et al. | — | 2019 | → |
| TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. | Liu J et al. | — | 2019 | → |
| The genetics of human hematopoiesis and its disruption in disease. | Bao EL et al. | — | 2019 | → |
| The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. | Giannuzzi G et al. | — | 2019 | → |
| Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort. | Callaghan DB et al. | — | 2019 | → |
| 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability. | Li W et al. | — | 2018 | → |
| 16p11.2 microdeletion syndrome: a case report. | Dell'Edera D et al. | — | 2018 | → |
| 5-HT release in nucleus accumbens rescues social deficits in mouse autism model. | Walsh JJ et al. | — | 2018 | → |
| Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions. | Demopoulos C et al. | — | 2018 | → |
| Advances in our understanding of the genetics of childhood neurodevelopmental disorders. | Doherty J et al. | — | 2018 | → |
| Altered synaptic transmission and maturation of hippocampal CA1 neurons in a mouse model of human chr16p11.2 microdeletion. | Lu HC et al. | — | 2018 | → |
| A new TAO kinase inhibitor reduces tau phosphorylation at sites associated with neurodegeneration in human tauopathies. | Giacomini C et al. | — | 2018 | → |
| An Imaging Glimpse into the Autistic Brain. | Rollins NK | — | 2018 | → |
| Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development. | Dang T et al. | — | 2018 | → |
| Cell Death Pathways: a Novel Therapeutic Approach for Neuroscientists. | Morris G et al. | — | 2018 | → |
| Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome. | Wang W et al. | — | 2018 | → |
| Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. | Hoang N et al. | — | 2018 | → |
| Comparative analysis of serum proteome in congenital scoliosis patients with TBX6 haploinsufficiency - a first report pointing to lipid metabolism. | Zhu Q et al. | — | 2018 | → |
| Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons. | Deneault E et al. | — | 2018 | → |
| Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar. | Riggs ER et al. | — | 2018 | → |
| Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia. | Demir Eksi D et al. | — | 2018 | → |
| Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis. | Brabbing-Goldstein D et al. | — | 2018 | → |
| Enrichment of rare copy number variation in children with developmental language disorder. | Kalnak N et al. | — | 2018 | → |
| ERK/MAPK signaling and autism spectrum disorders. | Vithayathil J et al. | — | 2018 | → |
| Focal Cortical Anomalies and Language Impairment in 16p11.2 Deletion and Duplication Syndrome. | Blackmon K et al. | — | 2018 | → |
| Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder. | Du X et al. | — | 2018 | → |
| Genetics of autism spectrum disorder. | Ramaswami G et al. | — | 2018 | → |
| GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia. | Pasman JA et al. | — | 2018 | → |
| Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing. | Desai P et al. | — | 2018 | → |
| Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions. | Lin S et al. | — | 2018 | → |
| JIP1-Mediated JNK Activation Negatively Regulates Synaptic Plasticity and Spatial Memory. | Morel C 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 | → |
| Male-specific deficits in natural reward learning in a mouse model of neurodevelopmental disorders. | Grissom NM et al. | — | 2018 | → |
| Neural stem cells in neuropsychiatric disorders. | Sacco R et al. | — | 2018 | → |
| Progress in the genetics of autism spectrum disorder. | Woodbury-Smith M et al. | — | 2018 | → |
| Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. | Martin-Brevet S et al. | — | 2018 | → |
| R-Baclofen Reverses Cognitive Deficits and Improves Social Interactions in Two Lines of 16p11.2 Deletion Mice. | Stoppel LJ et al. | — | 2018 | → |
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| Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders. | Deshpande A et al. | — | 2018 | → |
| Sex Differences in Psychiatric Disease: A Focus on the Glutamate System. | Wickens MM et al. | — | 2018 | → |
| Sex-specific Behavioral Features of Rodent Models of Autism Spectrum Disorder. | Jeon SJ et al. | — | 2018 | → |
| Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap. | Gandal MJ et al. | — | 2018 | → |
| Sulfotransferase 1A3/4 copy number variation is associated with neurodegenerative disease. | Butcher NJ et al. | — | 2018 | → |
| The Association of rs1670533 Polymorphism in RNF212 Gene With the Risk of Down Syndrome in Young Women. | Davari-Tanha F et al. | — | 2018 | → |
| TiSAn: estimating tissue-specific effects of coding and non-coding variants. | Vervier K et al. | — | 2018 | → |
| UBE3A and Its Link With Autism. | Vatsa N et al. | — | 2018 | → |
| Zebrafish models of autism spectrum disorder. | Meshalkina DA et al. | — | 2018 | → |
| Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future. | Sakai C et al. | — | 2018 | → |
| 16p11.2 deletion syndrome mice perseverate with active coping response to acute stress - rescue by blocking 5-HT2A receptors. | Panzini CM 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 | → |
| A framework to identify contributing genes in patients with Phelan-McDermid syndrome. | Tabet AC et al. | — | 2017 | → |
| Age-dependent motor dysfunction due to neuron-specific disruption of stress-activated protein kinase MKK7. | Yamasaki T et al. | — | 2017 | → |
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| Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder. | Deshpande A et al. | — | 2017 | → |
| Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. | Loviglio MN et al. | — | 2017 | → |
| Clinical interpretation of copy number variants in the human genome. | Nowakowska B | — | 2017 | → |
| CLOVE: classification of genomic fusions into structural variation events. | Schröder J et al. | — | 2017 | → |
| Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry. | Bouwkamp CG et al. | — | 2017 | → |
| Cost of assessing a child for possible autism spectrum disorder? An observational study of current practice in child development centres in the UK. | Galliver M et al. | — | 2017 | → |
| Cysteine-rich whey protein isolate (Immunocal®) ameliorates deficits in the GFAP.HMOX1 mouse model of schizophrenia. | Song W et al. | — | 2017 | → |
| Dendrite and spine modifications in autism and related neurodevelopmental disorders in patients and animal models. | Martínez-Cerdeño V | — | 2017 | → |
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| Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity. | Gilbert J et al. | — | 2017 | → |
| Genetic Approaches to Understanding Psychiatric Disease. | Michaelson JJ | — | 2017 | → |
| Genetics of psychosis of Alzheimer disease. | Shah C et al. | — | 2017 | → |
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| Hypersociability in the Angelman syndrome mouse model. | Stoppel DC et al. | — | 2017 | → |
| Interactive Effects of Prenatal Antidepressant Exposure and Likely Gene Disrupting Mutations on the Severity of Autism Spectrum Disorder. | Ackerman S et al. | — | 2017 | → |
| In vivo and in vitro disease modeling with CRISPR/Cas9. | Kato T et al. | — | 2017 | → |
| Kctd13 deletion reduces synaptic transmission via increased RhoA. | Escamilla CO et al. | — | 2017 | → |
| Long-term effects of bariatric surgery in patients with obesity and chromosome 16 p11.2 microdeletion. | Kristensson FM et al. | — | 2017 | → |
| MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at <i>Drosophila</i> Larval Neuromuscular Junctions. | Park SM 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 | → |
| MLPA analysis in a cohort of patients with autism. | Peixoto S et al. | — | 2017 | → |
| Modeling human disease in rodents by CRISPR/Cas9 genome editing. | Birling MC et al. | — | 2017 | → |
| Modulating Neuroinflammation to Treat Neuropsychiatric Disorders. | Radtke FA et al. | — | 2017 | → |
| Rare and common variants at 16p11.2 are associated with schizophrenia. | Chang H et al. | — | 2017 | → |
| Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. | Lim ET 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 | → |
| Role of Genetics in the Etiology of Autistic Spectrum Disorder: Towards a Hierarchical Diagnostic Strategy. | Robert C et al. | — | 2017 | → |
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| Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. | Fernandez BA et al. | — | 2017 | → |
| TAOK2 Kinase Mediates PSD95 Stability and Dendritic Spine Maturation through Septin7 Phosphorylation. | Yadav S et al. | — | 2017 | → |
| The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. | Loviglio MN et al. | — | 2017 | → |
| The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability. | Chaste P et al. | — | 2017 | → |
| Toward a conceptual framework for early brain and behavior development in autism. | Piven J et al. | — | 2017 | → |
| Using hiPSCs to model neuropsychiatric copy number variations (CNVs) has potential to reveal underlying disease mechanisms. | Flaherty EK et al. | — | 2017 | → |
| Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families. | Al-Mubarak B et al. | — | 2017 | → |
| 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. | Steinman KJ et al. | — | 2016 | → |
| 16p11.2 Locus modulates response to satiety before the onset of obesity. | Maillard AM et al. | — | 2016 | → |
| Age-Dependent Pleiotropy Between General Cognitive Function and Major Psychiatric Disorders. | Hill WD et al. | — | 2016 | → |
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| Autism Spectrum Disorders and Drug Addiction: Common Pathways, Common Molecules, Distinct Disorders? | Rothwell PE | — | 2016 | → |
| Bibliometric profile of the global scientific research on autism spectrum disorders. | Sweileh WM et al. | — | 2016 | → |
| Cell type-dependent Erk-Akt pathway crosstalk regulates the proliferation of fetal neural progenitor cells. | Rhim JH et al. | — | 2016 | → |
| Characterizing cognitive control abilities in children with 16p11.2 deletion using adaptive 'video game' technology: a pilot study. | Anguera JA et al. | — | 2016 | → |
| Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. | Ho KS et al. | — | 2016 | → |
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| Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. | Ho KS et al. | — | 2016 | → |
| Common polygenic risk for autism spectrum disorder (ASD) is associated with cognitive ability in the general population. | Clarke TK et al. | — | 2016 | → |
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| Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling. | Szczałuba K et al. | — | 2016 | → |
| Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. | D'Angelo D 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 | → |
| Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. | Nuttle X et al. | — | 2016 | → |
| Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. | Tai DJ et al. | — | 2016 | → |
| Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication. | Dastan J et al. | — | 2016 | → |
| Genes and Small RNA Transcripts Exhibit Dosage-Dependent Expression Pattern in Maize Copy-Number Alterations. | Zuo T et al. | — | 2016 | → |
| Genome-Wide Association Study of Meiotic Recombination Phenotypes. | Begum F et al. | — | 2016 | → |
| Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder. | Krishnan A et al. | — | 2016 | → |
| Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. | Degenhardt F et al. | — | 2016 | → |
| Impairments in dendrite morphogenesis as etiology for neurodevelopmental disorders and implications for therapeutic treatments. | Copf T | — | 2016 | → |
| Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets. | Zhu Z et al. | — | 2016 | → |
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| Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches. | Li J 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 | → |
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| 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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| Brief Report: Phenotypic Differences and their Relationship to Paternal Age and Gender in Autism Spectrum Disorder. | Vierck E et al. | — | 2015 | → |
| Cervicomedullary spinal stenosis and ventriculomegaly in a child with developmental delay due to chromosome 16p12.1 microdeletion syndrome. | Rai B et al. | — | 2015 | → |
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| Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion. | Tian D et al. | — | 2015 | → |
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| Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome. | Bamonte L | — | 2015 | → |
| Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes. | López S et al. | — | 2015 | → |
| Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. | Gamsiz ED et al. | — | 2015 | → |
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| Evidence for the multiple hits genetic theory for inherited language impairment: a case study. | Centanni TM et al. | — | 2015 | → |
| First glimpses of the neurobiology of autism spectrum disorder. | Sanders SJ | — | 2015 | → |
| Focal Points, Endogenous Processes, and Exogenous Shocks in the Autism Epidemic. | Liu K et al. | — | 2015 | → |
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| Gene hunting in autism spectrum disorder: on the path to precision medicine. | Geschwind DH et al. | — | 2015 | → |
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| Genetic research in autism spectrum disorders. | Robinson EB et al. | — | 2015 | → |
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| Genome-wide analysis identifies a role for common copy number variants in specific language impairment. | Simpson NH 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 analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome. | Hino-Fukuyo N et al. | — | 2015 | → |
| Genotype-first analysis of the 16p11.2 deletion defines a new type of "autism". | Duyzend MH et al. | — | 2015 | → |
| Global diversity, population stratification, and selection of human copy-number variation. | Sudmant PH et al. | — | 2015 | → |
| High-Resolution Array Comparative Genomic Hybridization Utility in Polish Newborns with Isolated Cleft Lip and Palate. | Szczałuba K et al. | — | 2015 | → |
| Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders. | Nava C et al. | — | 2015 | → |
| Increased female autosomal burden of rare copy number variants in human populations and in autism families. | Desachy G et al. | — | 2015 | → |
| Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. | Sanders SJ 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 | → |
| Large multiallelic copy number variations in humans. | Handsaker RE 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 | → |
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| Rare variants at 16p11.2 are associated with common variable immunodeficiency. | Maggadottir SM et al. | — | 2015 | → |
| Routine chromosomal microarray analysis is necessary in Korean patients with unexplained developmental delay/mental retardation/autism spectrum disorder. | Shin S et al. | — | 2015 | → |
| Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance. | Lee BH 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 | → |
| Statistical selection strategy for risk and protective rare variants associated with complex traits. | Kim S et al. | — | 2015 | → |
| Structural variation mutagenesis of the human genome: Impact on disease and evolution. | Lupski JR | — | 2015 | → |
| TBX6 null variants and a common hypomorphic allele in congenital scoliosis. | Wu N et al. | — | 2015 | → |
| The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway. | Pucilowska J et al. | — | 2015 | → |
| The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. | Maillard AM et al. | — | 2015 | → |
| The association between autism and schizophrenia spectrum disorders: A review of eight alternate models of co-occurrence. | Chisholm K et al. | — | 2015 | → |
| The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center. | Hrabik SA et al. | — | 2015 | → |
| The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. | Hanson E et al. | — | 2015 | → |
| The Danish 22q11 research initiative. | Schmock H et al. | — | 2015 | → |
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| The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. | Kusenda M et al. | — | 2015 | → |
| The study of psychiatric disease genes and drugs in zebrafish. | Haesemeyer M et al. | — | 2015 | → |
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| Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts. | Tewes AC et al. | — | 2015 | → |
| Whole-genome sequencing of quartet families with autism spectrum disorder. | Yuen RK et al. | — | 2015 | → |
| 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler EM et al. | — | 2014 | → |
| 1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay. | Takenouchi T et al. | — | 2014 | → |
| Aberrant white matter microstructure in children with 16p11.2 deletions. | Owen JP et al. | — | 2014 | → |
| A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2. | Okamoto N 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 | → |
| Advances in Genetic Discovery and Implications for Counseling of Patients and Families with Autism Spectrum Disorders. | Shen J et al. | — | 2014 | → |
| An examination of the relationship between hotspots and recombination associated with chromosome 21 nondisjunction. | Oliver TR et al. | — | 2014 | → |
| A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. | Zheng X et al. | — | 2014 | → |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME et al. | — | 2014 | → |
| Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome. | Portmann T et al. | — | 2014 | → |
| Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication. | Filges I et al. | — | 2014 | → |
| Cell-autonomous correction of ring chromosomes in human induced pluripotent stem cells. | Bershteyn M et al. | — | 2014 | → |
| Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions. | Burgess T et al. | — | 2014 | → |
| Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. | Roberts JL et al. | — | 2014 | → |
| Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes. | Ndika JD et al. | — | 2014 | → |
| CNVs conferring risk of autism or schizophrenia affect cognition in controls. | Stefansson H et al. | — | 2014 | → |
| Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH. | Nicholl J et al. | — | 2014 | → |
| Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications. | Batanian JR et al. | — | 2014 | → |
| Common genetic variants on 1p13.2 associate with risk of autism. | Xia K 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 | → |
| Comprehensive survey of CNVs influencing gene expression in the human brain and its implications for pathophysiology. | Mehta D et al. | — | 2014 | → |
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| 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 plays an important role in clinical epilepsy. | Olson H et al. | — | 2014 | → |
| Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling. | Jayachandran R et al. | — | 2014 | → |
| De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability. | McCarthy SE et al. | — | 2014 | → |
| Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders. | Stobbe G et al. | — | 2014 | → |
| Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. | Hodge JC et al. | — | 2014 | → |
| Disruptive CHD8 mutations define a subtype of autism early in development. | Bernier R et al. | — | 2014 | → |
| Etiologies underlying sex differences in Autism Spectrum Disorders. | Schaafsma SM 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 | → |
| 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 | → |
| Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease. | Jones MA et al. | — | 2014 | → |
| Genetic testing practices in infants with congenital heart disease. | Connor JA et al. | — | 2014 | → |
| Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. | Yang R et al. | — | 2014 | → |
| Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder. | Jarick I et al. | — | 2014 | → |
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| Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. | Doherty JL 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 rate of disease-related copy number variations in childhood onset schizophrenia. | Ahn K et al. | — | 2014 | → |
| Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. | Ceroni F 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 | → |
| Identifying novel interventional strategies for psychiatric disorders: integrating genomics, 'enviromics' and gene-environment interactions in valid preclinical models. | McOmish CE 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 | → |
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| Mapk/Erk activation in an animal model of social deficits shows a possible link to autism. | Faridar A 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 and cytogenetic analysis in stillbirth: results from 481 consecutive cases. | Sahlin E et al. | — | 2014 | → |
| MST3 kinase phosphorylates TAO1/2 to enable Myosin Va function in promoting spine synapse development. | Ultanir SK et al. | — | 2014 | → |
| Neuroimaging endophenotypes in animal models of autism spectrum disorders: lost or found in translation? | Petrinovic MM et al. | — | 2014 | → |
| Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region. | Egger JI et al. | — | 2014 | → |
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| Ohnologs are overrepresented in pathogenic copy number mutations. | McLysaght A et al. | — | 2014 | → |
| Opposing brain differences in 16p11.2 deletion and duplication carriers. | Qureshi AY et al. | — | 2014 | → |
| Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion. | Termsarasab P et al. | — | 2014 | → |
| Potential Role of Selenoenzymes and Antioxidant Metabolism in relation to Autism Etiology and Pathology. | Raymond LJ et al. | — | 2014 | → |
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| Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. | Kim YS et al. | — | 2014 | → |
| Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility. | Lang B et al. | — | 2014 | → |
| Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. | Al-Kateb H 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 | → |
| SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay. | D'Amours G et al. | — | 2014 | → |
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| The role of BAF (mSWI/SNF) complexes in mammalian neural development. | Son EY et al. | — | 2014 | → |
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| 16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2. | Barber JC et al. | — | 2013 | → |
| 1q21.1 Microduplication expression in adults. | Dolcetti A et al. | — | 2013 | → |
| A "bottom-up" approach to aetiological research in autism spectrum disorders. | Unwin LM et al. | — | 2013 | → |
| A common deletion in the APOBEC3 genes and breast cancer risk. | Long J et al. | — | 2013 | → |
| Alterations in mitochondrial DNA copy number and the activities of electron transport chain complexes and pyruvate dehydrogenase in the frontal cortex from subjects with autism. | Gu F et al. | — | 2013 | → |
| Altered metabolites in the plasma of autism spectrum disorder: a capillary electrophoresis time-of-flight mass spectroscopy study. | Kuwabara H et al. | — | 2013 | → |
| Altered social behaviours in neurexin 1α knockout mice resemble core symptoms in neurodevelopmental disorders. | Grayton HM et al. | — | 2013 | → |
| An epigenetic framework for neurodevelopmental disorders: from pathogenesis to potential therapy. | Millan MJ | — | 2013 | → |
| An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk. | Cheng Y et al. | — | 2013 | → |
| A novel approach for copy number variation analysis by combining multiplex PCR with matrix-assisted laser desorption ionization time-of-flight mass spectrometry. | Gao Y et al. | — | 2013 | → |
| Array-based Identification of Copy Number Changes in a Diagnostic Setting: Simultaneous gene-focused and low resolution whole human genome analysis. | Marquis-Nicholson R et al. | — | 2013 | → |
| Array CGH in brain tumors. | Mohapatra G et al. | — | 2013 | → |
| Autism genetics. | Persico AM et al. | — | 2013 | → |
| "Autism-plus" spectrum disorders: intersection with psychosis and the schizophrenia spectrum. | Cochran DM et al. | — | 2013 | → |
| Autism traits in individuals with agenesis of the corpus callosum. | Lau YC et al. | — | 2013 | → |
| Behavioural methods used in rodent models of autism spectrum disorders: current standards and new developments. | Wöhr M et al. | — | 2013 | → |
| CGH protocols: chronic lymphocytic leukemia. | Braggio E et al. | — | 2013 | → |
| Child development and molecular genetics: 14 years later. | Plomin R | — | 2013 | → |
| Child development and structural variation in the human genome. | Zhang Y et al. | — | 2013 | → |
| Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. | Raca G et al. | — | 2013 | → |
| Decreased tryptophan metabolism in patients with autism spectrum disorders. | Boccuto L et al. | — | 2013 | → |
| Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders. | Chien WH et al. | — | 2013 | → |
| Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy. | Bassuk AG et al. | — | 2013 | → |
| Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. | Szatkiewicz JP et al. | — | 2013 | → |
| Detection of selective sweeps in cattle using genome-wide SNP data. | Ramey HR et al. | — | 2013 | → |
| Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. | Moreno-De-Luca A et al. | — | 2013 | → |
| Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata. | Sireteanu A et al. | — | 2013 | → |
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| Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? | Amiet C et al. | — | 2013 | → |
| 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 | → |
| Effect of copy number variants on outcomes for infants with single ventricle heart defects. | Carey AS et al. | — | 2013 | → |
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| Evaluating rare variants in complex disorders using next-generation sequencing. | Ezewudo M et al. | — | 2013 | → |
| Evolution and diversity of copy number variation in the great ape lineage. | Sudmant PH et al. | — | 2013 | → |
| Expanding horizons: ciliary proteins reach beyond cilia. | Yuan S et al. | — | 2013 | → |
| Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. | Vorstman JA et al. | — | 2013 | → |
| From obesity genetics to the future of personalized obesity therapy. | El-Sayed Moustafa JS et al. | — | 2013 | → |
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| Genetic background modulates phenotypes of serotonin transporter Ala56 knock-in mice. | Kerr TM et al. | — | 2013 | → |
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| Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. | Vardarajan BN 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 | → |
| Insights on the functional impact of microRNAs present in autism-associated copy number variants. | Vaishnavi V et al. | — | 2013 | → |
| Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. | Draaken M 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 | → |
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| After the GWAS rush: nuggets of insight into the pathogenesis of autoimmune disease. | Danska JS et al. | — | 2009 | → |
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| Current status and the future for the genetics of type I diabetes. | Rich SS et al. | — | 2009 | → |
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