Copy-number variations associated with neuropsychiatric conditions.
paper
Cited
Public
Unavailable
- Authors
- Cook, Edwin H; Scherer, Stephen W
- Year
- 2008
- Journal
- Nature
- PMID
- 18923514
- DOI
- 10.1038/nature07458
Neuropsychiatric conditions such as autism and schizophrenia have long been attributed to genetic alterations, but identifying the genes responsible has proved challenging. Microarray experiments have now revealed abundant copy-number variation--a type of variation in which stretches of DNA are duplicated, deleted and sometimes rearranged--in the human population. Genes affected by copy-number variation are good candidates for research into disease susceptibility. The complexity of neuropsychiatric genetics, however, dictates that assessment of the biomedical relevance of copy-number variants and the genes that they affect needs to be considered in an integrated context.
No figures extracted from this document.
No chunks β full text not yet ingested.
No entities extracted from this document yet.
No uploaded files.
Not in any collection.
No citations found.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| Assessment of Motor Performance in Children with Autism Spectrum Disorder: The Relationship Between Clinical Characteristics and Intelligence-An Exploratory Cross-Sectional Study. | Alhussain JM et al. | β | 2026 | β |
| Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle. | Gao Y et al. | β | 2026 | β |
| Phased-assembly-driven pangenome graphs for structural variant genotyping and complex trait mapping in dairy cattle. | Yang L et al. | β | 2026 | β |
| The Use of Single-Cell and Spatial Omics to Study Copy Number Variants. | Malwade S et al. | β | 2026 | β |
| Duplication of the autism-related gene Chd8 leads to behavioral hyperactivity and neurodevelopmental defects in mice. | Kawamura A et al. | β | 2025 | β |
| Elucidating the interplay between gut microbiota and autism spectrum disorder. NewΒ insights and therapeutic perspectives. | Mavridou M et al. | β | 2025 | β |
| Genome-wide association meta-analysis and rare copy number variant analysis of treatment-resistant depression. | Xiong Y et al. | β | 2025 | β |
| Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication. | Peng C et al. | β | 2025 | β |
| Understanding autism: Causes, diagnosis, and advancing therapies. | Wang M et al. | β | 2025 | β |
| An integrated clinical approach to children at genetic risk for neurodevelopmental and psychiatric conditions: interdisciplinary collaboration and research infrastructure. | Summers J et al. | β | 2024 | β |
| High-resolution PGT-A results in incidental identification of patients with small pathogenic copy number variants. | Leahy D et al. | β | 2024 | β |
| Impact of distinct dystrophin gene mutations on behavioral phenotypes of Duchenne muscular dystrophy. | Saoudi A et al. | β | 2024 | β |
| Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci. | Grochowski CM et al. | β | 2024 | β |
| The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation. | Henis M et al. | β | 2024 | β |
| The genetic landscape of autism spectrum disorder in the Middle Eastern population. | Al-Sarraj Y et al. | β | 2024 | β |
| A crowdsourcing database for the copy-number variation of the Spanish population. | LΓ³pez-LΓ³pez D et al. | β | 2023 | β |
| Gene copy number variation and pediatric mental health/neurodevelopment in a general population. | Zarrei M et al. | β | 2023 | β |
| LPIH2V: LncRNA-protein interactions prediction using HIN2Vec based on heterogeneous networks model. | Wei MM et al. | β | 2023 | β |
| Modernising autism spectrum disorder model engineering and treatment <i>via</i> CRISPR-Cas9: A gene reprogramming approach. | Sandhu A et al. | β | 2023 | β |
| Overexpression of the autism candidate gene <i>Cyfip1</i> pathologically enhances olivo-cerebellar signaling in mice. | Busch SE et al. | β | 2023 | β |
| Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments. | Alibutud R et al. | β | 2023 | β |
| The Role of Genetics in Preterm Birth. | Mead EC et al. | β | 2023 | β |
| Familial coaggregation of major psychiatric disorders in first-degree relatives of individuals with autism spectrum disorder: a nationwide population-based study. | Wang HE et al. | β | 2022 | β |
| Multi-modal intermediate integrative methods in neuropsychiatric disorders: A review. | Wang Y et al. | β | 2022 | β |
| The Cerebellar Involvement in Autism Spectrum Disorders: From the Social Brain to Mouse Models. | Mapelli L et al. | β | 2022 | β |
| 8p21.3 deletions are rare causes of non-syndromic autism spectrum disorder. | Cosemans N et al. | β | 2021 | β |
| A Case for Thalamic Mechanisms of Schizophrenia: Perspective From Modeling 22q11.2 Deletion Syndrome. | Jiang Y et al. | β | 2021 | β |
| A Cluster-Based Approach for the Discovery of Copy Number Variations From Next-Generation Sequencing Data. | Liu G et al. | β | 2021 | β |
| A comprehensive analysis of copy number variation in a Turkish dementia cohort. | Dehghani N et al. | β | 2021 | β |
| Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7. | Meganathan K et al. | β | 2021 | β |
| A Unifying Theory for Autism: The Pathogenetic Triad as a Theoretical Framework. | Sarovic D | β | 2021 | β |
| Molecular Dysregulation in Autism Spectrum Disorder. | Gill PS et al. | β | 2021 | β |
| Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models. | Martin Lorenzo S et al. | β | 2021 | β |
| What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders. | Vorstman J et al. | β | 2021 | β |
| 22q11.2 deletion syndrome and schizophrenia. | Qin X et al. | β | 2020 | β |
| Are Steroid Hormones Dysregulated in Autistic Girls? | Gasser BA et al. | β | 2020 | β |
| Characterizing vulnerable brain areas and circuits in mouse models of autism: Towards understanding pathogenesis and new therapeutic approaches. | Hui K et al. | β | 2020 | β |
| Chromosome 15q13.3 microduplications are associated with treatment refractory major depressive disorder. | McClain L et al. | β | 2020 | β |
| From Multisensory Assessment to Functional Interpretation of Social Behavioral Phenotype in Transgenic Mouse Models for Autism Spectrum Disorders. | Arakawa H | β | 2020 | β |
| Genomic Variation, Evolvability, and the Paradox of Mental Illness. | Gualtieri CT | β | 2020 | β |
| Neural Mechanisms Underlying Repetitive Behaviors in Rodent Models of Autism Spectrum Disorders. | Gandhi T et al. | β | 2020 | β |
| Psychotic symptoms in 16p11.2 copy-number variant carriers. | Jutla A et al. | β | 2020 | β |
| RPI-SE: a stacking ensemble learning framework for ncRNA-protein interactions prediction using sequence information. | Yi HC et al. | β | 2020 | β |
| Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice. | Ouellette J et al. | β | 2020 | β |
| Visuo-attentional correlates of Autism Spectrum Disorder (ASD) in children with Down syndrome: A comparative study with children with idiopathic ASD. | Glennon JM et al. | β | 2020 | β |
| 9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression. | Bonati MT et al. | β | 2019 | β |
| A large data resource of genomic copy number variation across neurodevelopmental disorders. | Zarrei M et al. | β | 2019 | β |
| Analysis of a Protein Network Related to Copy Number Variations in Autism Spectrum Disorder. | Schuch JB et al. | β | 2019 | β |
| A Survey of Copy Number Variation in the Porcine Genome Detected From Whole-Genome Sequence. | Keel BN et al. | β | 2019 | β |
| Distal chromosome 16p11.2 duplications containing <i>SH2B1</i> in patients with scoliosis. | Sadler B et al. | β | 2019 | β |
| INDEX-db: The Indian Exome Reference Database (Phase I). | Ahmed P H et al. | β | 2019 | β |
| Integrating Genomics into Psychiatric Practice: Ethical and Legal Challenges for Clinicians. | Ward ET et al. | β | 2019 | β |
| Keratinocyte Proline-Rich Protein DeficiencyΒ inΒ Atopic Dermatitis Leads to Barrier Disruption. | Suga H et al. | β | 2019 | β |
| Molecular Dynamics Simulations of Wild Type and Mutants of SAPAP in Complexed with Shank3. | Piao L et al. | β | 2019 | β |
| Molecular subtyping of cancer: current status and moving toward clinical applications. | Zhao L et al. | β | 2019 | β |
| Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. | Lee C et al. | β | 2019 | β |
| Rare copy number variation in extremely impulsively violent males. | Vevera J et al. | β | 2019 | β |
| Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. | Costain G et al. | β | 2019 | β |
| Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. | Lauhasurayotin S et al. | β | 2019 | β |
| RNA 2'-O-Methylation (Nm) Modification in Human Diseases. | Dimitrova DG et al. | β | 2019 | β |
| Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles. | Botton MR et al. | β | 2019 | β |
| A remark on copy number variation detection methods. | Li S et al. | β | 2018 | β |
| [Association between copy number variations and risk of overweight/obesity among Han, Uyghur, and Kazak children]. | Ainiwaer A et al. | β | 2018 | β |
| Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder. | Hoang N et al. | β | 2018 | β |
| Current Enlightenment About Etiology and Pharmacological Treatment of Autism Spectrum Disorder. | Eissa N et al. | β | 2018 | β |
| DNA methylation and copy number variation analyses of human embryonic stem cell-derived neuroprogenitors after low-dose decabromodiphenyl ether and/or bisphenol A exposure. | Du L et al. | β | 2018 | β |
| Genetic testing and autism: Tutorial for communication sciences and disorders. | DeThorne LS et al. | β | 2018 | β |
| MSeq-CNV: accurate detection of Copy Number Variation from Sequencing of Multiple samples. | Malekpour SA et al. | β | 2018 | β |
| NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. | Fernandez-Marmiesse A et al. | β | 2018 | β |
| The Emerging Field of Epitranscriptomics in Neurodevelopmental and Neuronal Disorders. | Angelova MT et al. | β | 2018 | β |
| 22q12.3 microduplication overlapping the <i>LARGE</i> gene as a male-only affected loci responsible for increasing the risk of autism spectrum disorder. | Huang X et al. | β | 2017 | β |
| A Survey of Software and Hardware Approaches to Performing Read Alignment in Next Generation Sequencing. | Al Kawam A et al. | β | 2017 | β |
| Characterization of Large Copy Number Variation in Mexican Type 2 Diabetes subjects. | de JesΓΊs Ascencio-Montiel I et al. | β | 2017 | β |
| Chromosome-wise Protein Interaction Patterns and Their Impact on Functional Implications of Large-Scale Genomic Aberrations. | Kirk IK et al. | β | 2017 | β |
| De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome. | Sagar A et al. | β | 2017 | β |
| Developmental excitatory-to-inhibitory GABA-polarity switch is disrupted in 22q11.2 deletion syndrome: a potential target for clinical therapeutics. | Amin H et al. | β | 2017 | β |
| Dysfunctional mTORC1 Signaling: A Convergent Mechanism between Syndromic and Nonsyndromic Forms of Autism Spectrum Disorder? | Magdalon J et al. | β | 2017 | β |
| Genome-wide copy number variation in the bovine genome detected using low coverage sequence of popular beef breeds. | Keel BN et al. | β | 2017 | β |
| Modeling human disease in rodents by CRISPR/Cas9 genome editing. | Birling MC et al. | β | 2017 | β |
| Modulating Neuroinflammation to Treat Neuropsychiatric Disorders. | Radtke FA et al. | β | 2017 | β |
| Progress in Genetic Studies of Tourette's Syndrome. | Qi Y et al. | β | 2017 | β |
| Reliability of algorithmic somatic copy number alteration detection from targeted capture data. | Rieber N et al. | β | 2017 | β |
| Rodent models of genetic and chromosomal variations in psychiatric disorders. | Nomura J et al. | β | 2017 | β |
| Skeletal Site-specific Changes in Bone Mass in a Genetic Mouse Model for Human 15q11-13 Duplication Seen in Autism. | Lewis KE et al. | β | 2017 | β |
| Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. | Fernandez BA et al. | β | 2017 | β |
| Taming Human Genetic Variability: Transcriptomic Meta-Analysis Guides the Experimental Design and Interpretation of iPSC-Based Disease Modeling. | Germain PL et al. | β | 2017 | β |
| The clinical impact of copy number variants in inherited bone marrow failure syndromes. | Waespe N et al. | β | 2017 | β |
| Variable phenotype expression in a family segregating microdeletions of the <i>NRXN1</i> and <i>MBD5</i> autism spectrum disorder susceptibility genes. | Woodbury-Smith M et al. | β | 2017 | β |
| A binding site outside the canonical PDZ domain determines the specific interaction between Shank and SAPAP and their function. | Zeng M et al. | β | 2016 | β |
| A pilot study on commonality and specificity of copy number variants in schizophrenia and bipolar disorder. | Chen J et al. | β | 2016 | β |
| Behavioral phenotypes of genetic mouse models of autism. | Kazdoba TM et al. | β | 2016 | β |
| CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. | Wang B et al. | β | 2016 | β |
| Copy number variations and stroke. | Colaianni V et al. | β | 2016 | β |
| Drosophila Homolog of Human KIF22 at the Autism-Linked 16p11.2 Loci Influences Synaptic Connectivity at Larval Neuromuscular Junctions. | Park SM et al. | β | 2016 | β |
| Drug Repurposing Is a New Opportunity for Developing Drugs against Neuropsychiatric Disorders. | Lee HM et al. | β | 2016 | β |
| Evolutionary and Functional Features of Copy Number Variation in the Cattle Genome. | Keel BN et al. | β | 2016 | β |
| Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy. | Bagnall RD et al. | β | 2016 | β |
| Fast Bayesian Inference of Copy Number Variants using Hidden Markov Models with Wavelet Compression. | Wiedenhoeft J et al. | β | 2016 | β |
| Genetic and non-genetic animal models for autism spectrum disorders (ASD). | Ergaz Z et al. | β | 2016 | β |
| Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD). | Ornoy A et al. | β | 2016 | β |
| Genome-wide Association Study of Autism Spectrum Disorder in the East Asian Populations. | Liu X et al. | β | 2016 | β |
| Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. | Uddin M et al. | β | 2016 | β |
| Integrated small copy number variations and epigenome maps of disorders of sex development. | Amarillo IE et al. | β | 2016 | β |
| Joint detection of copy number variations in parent-offspring trios. | Liu Y et al. | β | 2016 | β |
| MGP-HMM: Detecting genome-wide CNVs using an HMM for modeling mate pair insertion sizes and read counts. | Malekpour SA et al. | β | 2016 | β |
| New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. | Cappuccio G et al. | β | 2016 | β |
| Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder. | Rucker JJ et al. | β | 2016 | β |
| Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. | Chang YS et al. | β | 2016 | β |
| Systematic identification of phenotypically enriched loci using a patient network of genomic disorders. | Reyes-Palomares A et al. | β | 2016 | β |
| The Human Model: Changing Focus on Autism Research. | Muotri AR | β | 2016 | β |
| The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia. | Crider A et al. | β | 2016 | β |
| Toward dissecting the etiology of schizophrenia: HDAC1 and DAXX regulate GAD67 expression in an in vitro hippocampal GABA neuron model. | Subburaju S et al. | β | 2016 | β |
| Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation. | Gazzellone MJ et al. | β | 2016 | β |
| A high-resolution copy-number variation resource for clinical and population genetics. | Uddin M et al. | β | 2015 | β |
| Argyrophilic grain disease: An underestimated tauopathy. | Rodriguez RD et al. | β | 2015 | β |
| A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis. | Lekman M et al. | β | 2015 | β |
| Cell-type-specific neuroanatomy of cliques of autism-related genes in the mouse brain. | Grange P et al. | β | 2015 | β |
| Clinical and molecular delineation of duplication 9p24.3q21.11 in a patient with psychotic behavior. | MartΓnez-Jacobo L et al. | β | 2015 | β |
| CNV Concordance in 1,097 MZ Twin Pairs. | Abdellaoui A et al. | β | 2015 | β |
| Comparative Genome of GK and Wistar Rats Reveals Genetic Basis of Type 2 Diabetes. | Liu T et al. | β | 2015 | β |
| Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. | Warnica W et al. | β | 2015 | β |
| Copy number variations play important roles in heredity of common diseases: a novel method to calculate heritability of a polymorphism. | Nagao Y | β | 2015 | β |
| Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach. | Miyatake S et al. | β | 2015 | β |
| Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. | Gamsiz ED et al. | β | 2015 | β |
| Droplet Digital Enzyme-Linked Oligonucleotide Hybridization Assay for Absolute RNA Quantification. | Guan W et al. | β | 2015 | β |
| Female Autism Phenotypes Investigated at Different Levels of Language and Developmental Abilities. | Howe YJ et al. | β | 2015 | β |
| Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies. | Pal LR et al. | β | 2015 | β |
| Genome-wide association study of copy number variations (CNVs) with opioid dependence. | Li D et al. | β | 2015 | β |
| Genomic architecture of human neuroanatomical diversity. | Toro R et al. | β | 2015 | β |
| Genomic structural variation in affective, anxiety, and stress-related disorders. | Ono S et al. | β | 2015 | β |
| Human genetics of diabetic nephropathy. | Tang ZH et al. | β | 2015 | β |
| Identification of copy number variations in Qinchuan cattle using BovineHD Genotyping Beadchip array. | Zhang Q et al. | β | 2015 | β |
| Influence of aflatoxin B1 on copy number variants in human leukocytes in vitro. | Harutyunyan T et al. | β | 2015 | β |
| Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation. | Simioni M et al. | β | 2015 | β |
| Mutation analysis of patients with neurodegenerative disorders using NeuroX array. | Ghani M et al. | β | 2015 | β |
| Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model. | Ellegood J et al. | β | 2015 | β |
| Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. | Newman S et al. | β | 2015 | β |
| Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort. | Feinberg JI et al. | β | 2015 | β |
| Physiological and pathophysiological roles for phospholipase D. | Nelson RK et al. | β | 2015 | β |
| Studying neurological disorders using induced pluripotent stem cells and optogenetics. | Chin EW et al. | β | 2015 | β |
| The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. | Hanson E et al. | β | 2015 | β |
| The complex genetics in autism spectrum disorders. | Hua R et al. | β | 2015 | β |
| The molecular genetic architecture of attention deficit hyperactivity disorder. | Hawi Z et al. | β | 2015 | β |
| Whole-genome CNV analysis: advances in computational approaches. | Pirooznia M et al. | β | 2015 | β |
| 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler EM et al. | β | 2014 | β |
| A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus. | Oei L et al. | β | 2014 | β |
| Analyses of copy number variation reveal putative susceptibility loci in MTX-induced mouse neural tube defects. | Wang J et al. | β | 2014 | β |
| An evaluation of copy number variation detection tools from whole-exome sequencing data. | Tan R et al. | β | 2014 | β |
| An inherited small microdeletion at 15q13.3 in a patient with early-onset obsessive-compulsive disorder. | Cappi C et al. | β | 2014 | β |
| Are copy number variants associated with adolescent idiopathic scoliosis? | Buchan JG et al. | β | 2014 | β |
| A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism. | Carayol J et al. | β | 2014 | β |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME et al. | β | 2014 | β |
| Behavioral signatures related to genetic disorders in autism. | Bruining H et al. | β | 2014 | β |
| Cerebellar plasticity and motor learning deficits in a copy-number variation mouse model of autism. | Piochon C et al. | β | 2014 | β |
| Copy number variants and therapeutic response to antidepressant medication in major depressive disorder. | Tansey KE et al. | β | 2014 | β |
| Copy number variation and autism: new insights and clinical implications. | Chung BH et al. | β | 2014 | β |
| Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. | McGrath LM et al. | β | 2014 | β |
| Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. | Brand H et al. | β | 2014 | β |
| eMBI: Boosting Gene Expression-based Clustering for Cancer Subtypes. | Chang Z et al. | β | 2014 | β |
| Epigenetic mechanisms in autism spectrum disorder. | Zhubi A et al. | β | 2014 | β |
| Extensive copy number variations in admixed Indian population of African ancestry: potential involvement in adaptation. | Narang A et al. | β | 2014 | β |
| Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. | Ceroni F et al. | β | 2014 | β |
| Human genetics of diabetic retinopathy. | Tang ZH et al. | β | 2014 | β |
| Identification of medium-sized copy number alterations in whole-genome sequencing. | Ozer HG et al. | β | 2014 | β |
| Increased l1 retrotransposition in the neuronal genome in schizophrenia. | Bundo M et al. | β | 2014 | β |
| Interaction of neurodevelopmental pathways and synaptic plasticity in mental retardation, autism spectrum disorder and schizophrenia: implications for psychiatry. | Waltereit R et al. | β | 2014 | β |
| Opposing brain differences in 16p11.2 deletion and duplication carriers. | Qureshi AY et al. | β | 2014 | β |
| Rapid birth-and-death evolution of imprinted snoRNAs in the Prader-Willi syndrome locus: implications for neural development in Euarchontoglires. | Zhang YJ et al. | β | 2014 | β |
| Recent advances in animal model experimentation in autism research. | Tania M et al. | β | 2014 | β |
| Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. | Mullegama SV et al. | β | 2014 | β |
| Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders. | Correia CT et al. | β | 2014 | β |
| SIRPB1 copy-number polymorphism as candidate quantitative trait locus for impulsive-disinhibited personality. | Laplana M et al. | β | 2014 | β |
| SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. | Bowton E et al. | β | 2014 | β |
| Statistical mechanical model of coupled transcription from multiple promoters due to transcription factor titration. | Rydenfelt M et al. | β | 2014 | β |
| Stem cells and modeling of autism spectrum disorders. | Freitas BC et al. | β | 2014 | β |
| The genetic architecture of neurodevelopmental disorders | Mitchell KJ | β | 2014 | β |
| The need for a comprehensive molecular characterization of autism spectrum disorders. | Broek JA et al. | β | 2014 | β |
| Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. | Blumenthal I et al. | β | 2014 | β |
| Urbanicity and autism spectrum disorders. | Lauritsen MB et al. | β | 2014 | β |
| 22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis. | Squarcione C et al. | β | 2013 | β |
| A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein. | Aigner J et al. | β | 2013 | β |
| A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social responsiveness scale. | Connolly JJ et al. | β | 2013 | β |
| A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease. | Ku CS et al. | β | 2013 | β |
| Co-expression profiling of autism genes in the mouse brain. | Menashe I et al. | β | 2013 | β |
| Comparative Analysis of CNV Calling Algorithms: Literature Survey and a Case Study Using Bovine High-Density SNP Data. | Xu L et al. | β | 2013 | β |
| Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion. | Sagar A et al. | β | 2013 | β |
| Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. | Alvarado DM et al. | β | 2013 | β |
| Copy number variations identified in the chicken using a 60K SNP BeadChip. | Jia X et al. | β | 2013 | β |
| De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. | Hamilton PJ et al. | β | 2013 | β |
| Distribution of disease-associated copy number variants across distinct disorders of cognitive development. | Pescosolido MF et al. | β | 2013 | β |
| Effect of homozygous deletions at 22q13.1 on alcohol dependence severity and cue-elicited BOLD response in the precuneus. | Liu J et al. | β | 2013 | β |
| Epigenomic strategies at the interface of genetic and environmental risk factors for autism. | LaSalle JM | β | 2013 | β |
| Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models. | Zeng L et al. | β | 2013 | β |
| Genome-wide association analysis of copy number variation in recurrent depressive disorder. | Rucker JJ et al. | β | 2013 | β |
| Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene. | Villela D et al. | β | 2013 | β |
| Human genetics of diabetic vascular complications. | Tang ZH et al. | β | 2013 | β |
| Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. | Poultney CS et al. | β | 2013 | β |
| Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample. | Guffanti G et al. | β | 2013 | β |
| Insights on the functional interactions between miRNAs and copy number variations in the aging brain. | Persengiev S et al. | β | 2013 | β |
| Modeling autism by SHANK gene mutations in mice. | Jiang YH et al. | β | 2013 | β |
| 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. | β | 2013 | β |
| Neuroligin-1 controls synaptic abundance of NMDA-type glutamate receptors through extracellular coupling. | Budreck EC et al. | β | 2013 | β |
| Our fragile intellect. Part I. | Crabtree GR | β | 2013 | β |
| Parental psychiatric disorders and autism spectrum disorders. | Jokiranta E et al. | β | 2013 | β |
| Parents' perspectives on participating in genetic research in autism. | Trottier M et al. | β | 2013 | β |
| Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays. | Costain G et al. | β | 2013 | β |
| Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population. | Zhao Q et al. | β | 2013 | β |
| Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome. | Campbell NG et al. | β | 2013 | β |
| Recent advances in the molecular genetics of epilepsy. | Hildebrand MS et al. | β | 2013 | β |
| Segmental duplications in genome-wide significant loci and housekeeping genes; warning for GAPDH and ACTB. | Ghani M et al. | β | 2013 | β |
| Sex bias in copy number variation of olfactory receptor gene family depends on ethnicity. | Shadravan F | β | 2013 | β |
| The role of zebrafish (Danio rerio) in dissecting the genetics and neural circuits of executive function. | Parker MO et al. | β | 2013 | β |
| Toward developmental models of psychiatric disorders in zebrafish. | Norton WH | β | 2013 | β |
| Towards identification of individual etiologies by resolving genomic and biological conundrums in patients with autism spectrum disorders. | Poot M | β | 2013 | β |
| UGT2B17 copy number gain in a large ankylosing spondylitis multiplex family. | Uddin M et al. | β | 2013 | β |
| Using mouse models of autism spectrum disorders to study the neurotoxicology of gene-environment interactions. | Schwartzer JJ et al. | β | 2013 | β |
| Varenicline in autistic disorder: hypothesis and case report of single-patient crossover. | Arnold LE et al. | β | 2013 | β |
| A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. | Griesi-Oliveira K et al. | β | 2012 | β |
| A discovery resource of rare copy number variations in individuals with autism spectrum disorder. | Prasad A et al. | β | 2012 | β |
| Adjuvant chemotherapy for breast cancer in patients with schizophrenia. | Hwang M et al. | β | 2012 | β |
| Altered balance of proteolytic isoforms of pro-brain-derived neurotrophic factor in autism. | Garcia KL et al. | β | 2012 | β |
| Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. | Swaminathan S et al. | β | 2012 | β |
| Analysis of copy number variation in Alzheimer's disease: the NIALOAD/ NCRAD Family Study. | Swaminathan S et al. | β | 2012 | β |
| An environmental analysis of genes associated with schizophrenia: hypoxia and vascular factors as interacting elements in the neurodevelopmental model. | Schmidt-Kastner R et al. | β | 2012 | β |
| A novel X-linked disorder with developmental delay and autistic features. | Kaya N et al. | β | 2012 | β |
| Association of genetic copy number variations at 11 q14.2 with brain regional volume differences in an alcohol use disorder population. | Boutte D et al. | β | 2012 | β |
| Broadening our horizons: gene expression profiling to help better understand the neurobiology of suicide and depression. | Fiori LM et al. | β | 2012 | β |
| Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. | Costain G et al. | β | 2012 | β |
| Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns. | Coughlin CR et al. | β | 2012 | β |
| Confluence of genes, environment, development, and behavior in a post Genome-Wide Association Study world. | Vrieze SI et al. | β | 2012 | β |
| Copy number variation in the cattle genome. | Liu GE et al. | β | 2012 | β |
| Copy number variation of individual cattle genomes using next-generation sequencing. | Bickhart DM et al. | β | 2012 | β |
| Copy number variations in neurodevelopmental disorders. | Grayton HM et al. | β | 2012 | β |
| Crh and Oprm1 mediate anxiety-related behavior and social approach in a mouse model of MECP2 duplication syndrome. | Samaco RC et al. | β | 2012 | β |
| Cross-diagnostic comparison of duration mismatch negativity and P3a in bipolar disorder and schizophrenia. | Jahshan C et al. | β | 2012 | β |
| De novo and inherited CNVs in MZ twin pairs selected for discordance and concordance on Attention Problems. | Ehli EA et al. | β | 2012 | β |
| De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining. | Arlt MF et al. | β | 2012 | β |
| De novo mutations in human genetic disease. | Veltman JA et al. | β | 2012 | β |
| De novo mutations, protein-protein interactions and functional regulatory networks toward novel diagnostics in autism. | Ku CS et al. | β | 2012 | β |
| Detection and characterization of copy number variation in autism spectrum disorder. | Marshall CR et al. | β | 2012 | β |
| Evidence for involvement of GNB1L in autism. | Chen YZ et al. | β | 2012 | β |
| Familial linkage between neuropsychiatric disorders and intellectual interests. | Campbell BC et al. | β | 2012 | β |
| Fine mapping of copy number variations on two cattle genome assemblies using high density SNP array. | Hou Y et al. | β | 2012 | β |
| First-degree relatives of young children with autism spectrum disorders: some gender aspects. | Eriksson MA et al. | β | 2012 | β |
| Gene expression studies in autism: moving from the genome to the transcriptome and beyond. | Voineagu I | β | 2012 | β |
| Genetic architecture in autism spectrum disorder. | Devlin B et al. | β | 2012 | β |
| Genome wide association studies (GWAS) and copy number variation (CNV) studies of the major psychoses: what have we learnt? | Lee KW et al. | β | 2012 | β |
| Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. | Ghani M et al. | β | 2012 | β |
| Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism. | Meyer KJ et al. | β | 2012 | β |
| Individual common variants exert weak effects on the risk for autism spectrum disorders. | Anney R et al. | β | 2012 | β |
| Infant siblings and the investigation of autism risk factors. | Newschaffer CJ et al. | β | 2012 | β |
| MAPK signaling determines anxiety in the juvenile mouse brain but depression-like behavior in adults. | Wefers B et al. | β | 2012 | β |
| Mixed sequence reader: a program for analyzing DNA sequences with heterozygous base calling. | Chang CT et al. | β | 2012 | β |
| Modeling the functional genomics of autism using human neurons. | Konopka G et al. | β | 2012 | β |
| Plasma cytokine levels in children with autistic disorder and unrelated siblings. | Manzardo AM et al. | β | 2012 | β |
| Psychosis Incident Cohort Outcome Study (PICOS). A multisite study of clinical, social and biological characteristics, patterns of care and predictors of outcome in first-episode psychosis. Background, methodology and overview of the patient sample. | Lasalvia A et al. | β | 2012 | β |
| Rare and common variants: twenty arguments. | Gibson G | β | 2012 | β |
| Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK et al. | β | 2012 | β |
| Rare variants in complex traits: novel identification strategies and the role of de novo mutations. | Jouan L et al. | β | 2012 | β |
| Recent advances in nutrition, genes and brain health. | Dauncey MJ | β | 2012 | β |
| Replication stress and mechanisms of CNV formation. | Arlt MF et al. | β | 2012 | β |
| Schizophrenia genes: on the matter of their convergence. | Rujescu D | β | 2012 | β |
| Sex differences in repetitive stereotyped behaviors in autism: implications for genetic liability. | Szatmari P et al. | β | 2012 | β |
| SHANK1 Deletions in Males with Autism Spectrum Disorder. | Sato D et al. | β | 2012 | β |
| SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism. | Durand CM et al. | β | 2012 | β |
| Srgap3β»/β» mice present a neurodevelopmental disorder with schizophrenia-related intermediate phenotypes. | Waltereit R et al. | β | 2012 | β |
| Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study. | Liu Q et al. | β | 2012 | β |
| The genetic architecture of schizophrenia: new mutations and emerging paradigms. | Rodriguez-Murillo L et al. | β | 2012 | β |
| Towards an evidence-based process for the clinical interpretation of copy number variation. | Riggs ER et al. | β | 2012 | β |
| Translational animal models of autism and neurodevelopmental disorders. | Crawley JN | β | 2012 | β |
| Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease. | Bademci G et al. | β | 2012 | β |
| Update on the neurobiology of schizophrenia: a role for extracellular microdomains. | Shan D et al. | β | 2012 | β |
| Using ERDS to infer copy-number variants in high-coverage genomes. | Zhu M et al. | β | 2012 | β |
| Validation of proposed DSM-5 criteria for autism spectrum disorder. | Frazier TW et al. | β | 2012 | β |
| Whole genome sequencing for quantifying germline mutation frequency in humans and model species: cautious optimism. | Beal MA et al. | β | 2012 | β |
| A brain region-specific predictive gene map for autism derived by profiling a reference gene set. | Kumar A et al. | β | 2011 | β |
| A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3. | Pagnamenta AT et al. | β | 2011 | β |
| A genome-wide CNV association study on panic disorder in a Japanese population. | Kawamura Y et al. | β | 2011 | β |
| A genomic point-of-view on environmental factors influencing the human brain methylome. | LaSalle JM | β | 2011 | β |
| A genotype resource for postmortem brain samples from the Autism Tissue Program. | Wintle RF et al. | β | 2011 | β |
| Children with autism spectrum disorders (ASD) who exhibit chronic gastrointestinal (GI) symptoms and marked fluctuation of behavioral symptoms exhibit distinct innate immune abnormalities and transcriptional profiles of peripheral blood (PB) monocytes. | Jyonouchi H et al. | β | 2011 | β |
| Clinical and cognitive characteristics of children with attention-deficit hyperactivity disorder, with and without copy number variants. | Langley K et al. | β | 2011 | β |
| Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants. | Zhang SL et al. | β | 2011 | β |
| Comparison of constitutional and replication stress-induced genome structural variation by SNP array and mate-pair sequencing. | Arlt MF et al. | β | 2011 | β |
| De novo paradigm: the ultimate answer to the paradox in mental retardation? | Huang K | β | 2011 | β |
| Deviant peer affiliation and antisocial behavior: interaction with Monoamine Oxidase A (MAOA) genotype. | Lee SS | β | 2011 | β |
| Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. | Poot M et al. | β | 2011 | β |
| Do common variants play a role in risk for autism? Evidence and theoretical musings. | Devlin B et al. | β | 2011 | β |
| Exome sequencing and the genetics of intellectual disability. | Topper S et al. | β | 2011 | β |
| FCGR3B copy number variation is associated with systemic lupus erythematosus risk in Afro-Caribbeans. | Molokhia M et al. | β | 2011 | β |
| Gene and miRNA expression profiles in autism spectrum disorders. | Ghahramani Seno MM et al. | β | 2011 | β |
| [Genetic analyses for identifying molecular mechanisms in autism spectrum disorders]. | Chiocchetti A et al. | β | 2011 | β |
| [Genetic and brain structure anomalies in autism spectrum disorders. Towards an understanding of the aetiopathogenesis?]. | Nickl-Jockschat T et al. | β | 2011 | β |
| Genetics in autism diagnosis: adding molecular subtypes to neurobehavioral diagnoses. | Johnson HM et al. | β | 2011 | β |
| Genetics in psychiatry: are the promises met? | Bondy B | β | 2011 | β |
| Genetics of autism spectrum disorders. | Geschwind DH | β | 2011 | β |
| 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. | β | 2011 | β |
| Genome-wide algorithm for detecting CNV associations with diseases. | Xu Y et al. | β | 2011 | β |
| Genome-wide detection of allele specific copy number variation associated with insulin resistance in African Americans from the HyperGEN study. | Irvin MR et al. | β | 2011 | β |
| Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study. | Swaminathan S et al. | β | 2011 | β |
| Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. | Carter MT et al. | β | 2011 | β |
| Hydroxyurea induces de novo copy number variants in human cells. | Arlt MF et al. | β | 2011 | β |
| Links between genetics and pathophysiology in the autism spectrum disorders. | Holt R et al. | β | 2011 | β |
| Mouse models of autism: testing hypotheses about molecular mechanisms. | Roullet FI et al. | β | 2011 | β |
| Mutation of Semaphorin-6A disrupts limbic and cortical connectivity and models neurodevelopmental psychopathology. | RΓΌnker AE et al. | β | 2011 | β |
| Neuronal chromatin dynamics of imprinting in development and disease. | Leung KN et al. | β | 2011 | β |
| Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome. | Meguro-Horike M et al. | β | 2011 | β |
| PARK2 copy number aberrations in two children presenting with autism spectrum disorder: further support of an association and possible evidence for a new microdeletion/microduplication syndrome. | Scheuerle A et al. | β | 2011 | β |
| Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. | Chung BH et al. | β | 2011 | β |
| Prenatal exposure to Ξ²2-adrenergic receptor agonists and risk of autism spectrum disorders. | Croen LA et al. | β | 2011 | β |
| Progress in understanding autism: 2007-2010. | Rutter ML | β | 2011 | β |
| Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD. | Lionel AC et al. | β | 2011 | β |
| Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. | Ozonoff S et al. | β | 2011 | β |
| Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. | Nord AS et al. | β | 2011 | β |
| Risk factors for autism: translating genomic discoveries into diagnostics. | Scherer SW et al. | β | 2011 | β |
| Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism. | van Daalen E et al. | β | 2011 | β |
| The Cerebral Palsy Demonstration Project: a multidimensional research approach to cerebral palsy. | Shevell M et al. | β | 2011 | β |
| The neurobiology of mouse models syntenic to human chromosome 15q. | Takumi T | β | 2011 | β |
| The NeuroDevNet Autism Spectrum Disorders Demonstration Project. | Zwaigenbaum L et al. | β | 2011 | β |
| 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. | Karayiorgou M et al. | β | 2010 | β |
| Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations. | Fu Y et al. | β | 2010 | β |
| A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events. | Kukita Y et al. | β | 2010 | β |
| A de novo paradigm for mental retardation. | Vissers LE et al. | β | 2010 | β |
| A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays. | Yilmaz A et al. | β | 2010 | β |
| A genome-wide scan for common alleles affecting risk for autism. | Anney R et al. | β | 2010 | β |
| A haplotype of glycogen synthase kinase 3Ξ² is associated with early onset of unipolar major depression. | Saus E et al. | β | 2010 | β |
| Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: Genetics core aims, progress, and plans. | Saykin AJ et al. | β | 2010 | β |
| Analyses of copy number variation of GK rat reveal new putative type 2 diabetes susceptibility loci. | Ye ZQ et al. | β | 2010 | β |
| Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. | KantojΓ€rvi K et al. | β | 2010 | β |
| Analysis of copy number variations among diverse cattle breeds. | Liu GE et al. | β | 2010 | β |
| An improved in silico selection of phenotype affecting polymorphisms in SLC6A4, HTR1A and HTR2A genes. | Piva F et al. | β | 2010 | β |
| Approaches to unravel the genetics of sleep. | Bamne MN et al. | β | 2010 | β |
| Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. | RodrΓguez-Santiago B et al. | β | 2010 | β |
| Association of DRD4 polymorphism with severity of oppositional defiant disorder, separation anxiety disorder and repetitive behaviors in children with autism spectrum disorder. | Gadow KD et al. | β | 2010 | β |
| Barcode technology in yeast: application to pharmacogenomics. | Delneri D | β | 2010 | β |
| Beating the boojum: comparative approaches to the neurobiology of social behavior. | Phelps SM et al. | β | 2010 | β |
| Behavioural phenotyping assays for mouse models of autism. | Silverman JL et al. | β | 2010 | β |
| CBF gene copy number variation at Frost Resistance-2 is associated with levels of freezing tolerance in temperate-climate cereals. | Knox AK et al. | β | 2010 | β |
| Child and adolescent psychiatric genetics. | Hebebrand J et al. | β | 2010 | β |
| cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs. | Coin LJ et al. | β | 2010 | β |
| CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. | Gai X et al. | β | 2010 | β |
| Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). | Treadwell-Deering DE et al. | β | 2010 | β |
| Common genetic variations in TPH1/TPH2 genes are not associated with schizophrenia in Japanese population. | Shiroiwa K et al. | β | 2010 | β |
| Communication, interventions, and scientific advances in autism: a commentary. | Llaneza DC et al. | β | 2010 | β |
| Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. | McBride KL et al. | β | 2010 | β |
| Confirmed rare copy number variants implicate novel genes in schizophrenia. | Tam GW et al. | β | 2010 | β |
| Copy number variation in schizophrenia in the Japanese population. | Ikeda M et al. | β | 2010 | β |
| Copy number variation in the bovine genome. | Fadista J et al. | β | 2010 | β |
| Copy number variation of the SELENBP1 gene in schizophrenia. | Amar S et al. | β | 2010 | β |
| Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease. | Bassett AS et al. | β | 2010 | β |
| Decreased exploratory activity in a mouse model of 15q duplication syndrome; implications for disturbance of serotonin signaling. | Tamada K et al. | β | 2010 | β |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. | Noor A et al. | β | 2010 | β |
| Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. | Poot M et al. | β | 2010 | β |
| Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophrenia. | Ono S et al. | β | 2010 | β |
| Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D et al. | β | 2010 | β |
| Gene copy number variation and common human disease. | Fanciulli M et al. | β | 2010 | β |
| Genetic heterogeneity in human disease. | McClellan J et al. | β | 2010 | β |
| Genetic research into bipolar disorder: the need for a research framework that integrates sophisticated molecular biology and clinically informed phenotype characterization. | Schulze TG | β | 2010 | β |
| Genetics of human social behavior. | Ebstein RP et al. | β | 2010 | β |
| Genome-wide association analysis of copy number variations in subarachnoid aneurysmal hemorrhage. | Bae JS et al. | β | 2010 | β |
| Genome-wide association studies: a primer. | Corvin A et al. | β | 2010 | β |
| Genome-wide scan of copy number variation in late-onset Alzheimer's disease. | Heinzen EL et al. | β | 2010 | β |
| Genomic and epigenomic instability, fragile sites, schizophrenia and autism. | Smith CL et al. | β | 2010 | β |
| Genomic copy number variation in disorders of cognitive development. | Morrow EM | β | 2010 | β |
| Genomic medicine--an updated primer. | Feero WG et al. | β | 2010 | β |
| Getting answers from babies about autism. | Elsabbagh M et al. | β | 2010 | β |
| Imaging the amygdala: changing the face of gene discovery in child psychiatry. | Arnold PD et al. | β | 2010 | β |
| Key role for gene dosage and synaptic homeostasis in autism spectrum disorders. | Toro R et al. | β | 2010 | β |
| Lower linkage disequilibrium at CNVs is due to both recurrent mutation and transposing duplications. | Schrider DR et al. | β | 2010 | β |
| Medicine. The future of psychiatric research: genomes and neural circuits. | Akil H et al. | β | 2010 | β |
| Modeling complex neuropsychiatric disease with induced pluripotent stem cells. | Ross PJ et al. | β | 2010 | β |
| Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation. | Berkel S et al. | β | 2010 | β |
| Neuropsychiatric connections of ADHD genes. | Burbach JP | β | 2010 | β |
| Pharmacogenetics--genomics and personalized psychiatry. | MΓΆller HJ et al. | β | 2010 | β |
| Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. | Fernandez BA et al. | β | 2010 | β |
| Polygenic heterogeneity: a complex model of genetic inheritance in psychiatric disorders. | Rucker JJ et al. | β | 2010 | β |
| Postsynaptic deregulation in GAP-43 heterozygous mouse barrel cortex. | Kelly EA et al. | β | 2010 | β |
| Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis. | Williams NM et al. | β | 2010 | β |
| Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. | de Kovel CG et al. | β | 2010 | β |
| Redefining disease. | Bell J | β | 2010 | β |
| Somatic genome variations interact with environment, genome and epigenome in the determination of the phenotype: A paradigm shift in genomics? | Sgaramella V et al. | β | 2010 | β |
| Sparse Canonical Correlation Analysis Applied to fMRI and Genetic Data Fusion. | Boutte D et al. | β | 2010 | β |
| The clinical context of copy number variation in the human genome. | Lee C et al. | β | 2010 | β |
| The discovery of human genetic variations and their use as disease markers: past, present and future. | Ku CS et al. | β | 2010 | β |
| The genetic epidemiology of personality disorders. | Reichborn-Kjennerud T | β | 2010 | β |
| The genetics and epigenetics of fatigue. | Landmark-HΓΈyvik H et al. | β | 2010 | β |
| The human endogenous retrovirus link between genes and environment in multiple sclerosis and in multifactorial diseases associating neuroinflammation. | Perron H et al. | β | 2010 | β |
| The MECP2 duplication syndrome. | Ramocki MB et al. | β | 2010 | β |
| The Simons Simplex Collection: a resource for identification of autism genetic risk factors. | Fischbach GD et al. | β | 2010 | β |
| The sophisticated mouse: protecting a precious reagent. | Wiles MV et al. | β | 2010 | β |
| Toward new approaches to psychotic disorders: the NIMH Research Domain Criteria project. | Cuthbert BN et al. | β | 2010 | β |
| Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism. | Nakatani J et al. | β | 2009 | β |
| Altered growth factor signaling pathways as the basis of aberrant stem cell maturation in schizophrenia. | Kalkman HO | β | 2009 | β |
| Anesthetic sensitivity: learning to fly. | Kelz MB et al. | β | 2009 | β |
| Aneuploidy: from a physiological mechanism of variance to Down syndrome. | Dierssen M et al. | β | 2009 | β |
| Autism. | Levy SE et al. | β | 2009 | β |
| Autism Genetic Database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites. | Matuszek G et al. | β | 2009 | β |
| Autism spectrum and obsessive-compulsive disorders: OC behaviors, phenotypes and genetics. | Jacob S et al. | β | 2009 | β |
| Autism: the ups and downs of neuroligin. | Geschwind DH | β | 2009 | β |
| Common variants on chromosome 6p22.1 are associated with schizophrenia. | Shi J et al. | β | 2009 | β |
| Common vs. rare allele hypotheses for complex diseases. | Schork NJ et al. | β | 2009 | β |
| Controversies surrounding the diagnosis of schizophrenia and other psychoses. | Cuesta MJ et al. | β | 2009 | β |
| Copy-number variants in neurodevelopmental disorders: promises and challenges. | Merikangas AK et al. | β | 2009 | β |
| Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension. | Johnson JA et al. | β | 2009 | β |
| Copy number variation in intron 1 of SOX5 causes the Pea-comb phenotype in chickens. | Wright D et al. | β | 2009 | β |
| Current understanding of the genetic basis of psoriasis. | Gudjonsson JE et al. | β | 2009 | β |
| Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. | Friedman J et al. | β | 2009 | β |
| Developmental anatomy of reeler mutant mouse. | Katsuyama Y et al. | β | 2009 | β |
| Dissecting the many genetic faces of schizophrenia. | Rujescu D et al. | β | 2009 | β |
| Endogenous retroviral genes, Herpesviruses and gender in Multiple Sclerosis. | Perron H et al. | β | 2009 | β |
| Epigenetics, genomic mutations and cognitive function. | Reichenberg A et al. | β | 2009 | β |
| Epilepsy pharmacogenetics. | KasperaviciΕ«te D et al. | β | 2009 | β |
| Evolving role of MeCP2 in Rett syndrome and autism. | LaSalle JM et al. | β | 2009 | β |
| From age correction to genome-wide association. | Cohen-Woods S et al. | β | 2009 | β |
| From microarrays to mechanisms of brain development and function. | DΓaz E | β | 2009 | β |
| Fruit flies and intellectual disability. | Bolduc FV et al. | β | 2009 | β |
| Genetic basis of neural tube defects. | Bassuk AG et al. | β | 2009 | β |
| Methodological issues in molecular genetic studies of mental disorders. | Bearden CE et al. | β | 2009 | β |
| Multiple rare variants in the etiology of autism spectrum disorders. | Buxbaum JD | β | 2009 | β |
| Pathogenesis of autism: a patchwork of genetic causes. | Grigorenko EL | β | 2009 | β |
| Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future. | Alaerts M et al. | β | 2009 | β |
| Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances. | LaFramboise T | β | 2009 | β |
| The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders. | Levitt P et al. | β | 2009 | β |
| The genetics of obsessive-compulsive disorder and Tourette's syndrome: what are the common factors? | Grados MA | β | 2009 | β |
| The genetics of reading disability. | Petryshen TL et al. | β | 2009 | β |
| The genetics of Tourette syndrome: a review. | O'Rourke JA et al. | β | 2009 | β |
| The impact of genetic research on our understanding of normal cognitive ageing: 1995 to 2009. | Payton A | β | 2009 | β |
| The role of DNA copy number variation in schizophrenia. | Tam GW et al. | β | 2009 | β |
| Phenotypic variations on the theme of CNVs. | O'Donovan MC et al. | β | 2008 | β |