Rare chromosomal deletions and duplications increase risk of schizophrenia.
paper
Cited
Public
- Authors
- International Schizophrenia Consortium
- Year
- 2008
- Journal
- Nature
- PMID
- 18668038
- DOI
- 10.1038/nature07239
- PMCID
- PMC3912847
Schizophrenia is a severe mental disorder marked by hallucinations, delusions, cognitive deficits and apathy, with a heritability estimated at 73-90% (ref. 1). Inheritance patterns are complex, and the number and type of genetic variants involved are not understood. Copy number variants (CNVs) have been identified in individual patients with schizophrenia and also in neurodevelopmental disorders, but large-scale genome-wide surveys have not been performed. Here we report a genome-wide survey of rare CNVs in 3,391 patients with schizophrenia and 3,181 ancestrally matched controls, using high-density microarrays. For CNVs that were observed in less than 1% of the sample and were more than 100 kilobases in length, the total burden is increased 1.15-fold in patients with schizophrenia in comparison with controls. This effect was more pronounced for rarer, single-occurrence CNVs and for those that involved genes as opposed to those that did not. As expected, deletions were found within the region critical for velo-cardio-facial syndrome, which includes psychotic symptoms in 30% of patients. Associations with schizophrenia were also found for large deletions on chromosome 15q13.3 and 1q21.1. These associations have not previously been reported, and they remained significant after genome-wide correction. Our results provide strong support for a model of schizophrenia pathogenesis that includes the effects of multiple rare structural variants, both genome-wide and at specific loci.
Regions with excess large deletions in casesa)The positions of CNVs >500kb across chromosome 22q11.2 region. Case deletions: red lines. Horizontal dashed sections: qPCR or visual inspection of array intensity data suggest an extended deletion. Green lines: locations of low-copy repeats (LCR22-2-LCR22-4). Gray lines: recurrent βΌ3MB and βΌ1.5MB VCFS deletions. qPCR primers marked by vertical dashed lines. b) Chromosome 15q13.2 region, as above, except for the locations of breakpoint regions (BP4, BP5) (green) and the MR critical region previously defined17. c) Chromosome 1q21.1: as above, except single deletion identified in a control subject is marked by blue line.
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| 0 | Methods Summary | Cases satisfied DSM-IV or ICD-10 criteria for SCZ and were broadly representative of clinical cases⦠|
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| Computational model of alpha 7 nicotinic acetylcholine receptor in thalamic reticular nucleus neurons and their involvement in network states. | Ullah A et al. | β | 2025 | β |
| From variants to mechanisms: Neurogenomics in the post-GWAS era. | Margolis MP et al. | β | 2025 | β |
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| A critical review of the impact of candidate copy number variants on autism spectrum disorder. | Abedini SS et al. | β | 2024 | β |
| Bayesian Rare Variant Analysis Identifies Novel Schizophrenia Putative Risk Genes. | Han S | β | 2024 | β |
| Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report. | Das S et al. | β | 2024 | β |
| ECOLE: Learning to call copy number variants on whole exome sequencing data. | Mandiracioglu B et al. | β | 2024 | β |
| Hippocampal Availability of the Ξ±7 Nicotinic Acetylcholine Receptor in Recent-Onset Psychosis. | Wong NR et al. | β | 2024 | β |
| Impaired oxysterol-liver X receptor signaling underlies aberrant cortical neurogenesis in a stem cell model of neurodevelopmental disorder. | De La Fuente DC et al. | β | 2024 | β |
| Meta-analyses of epigenetic age acceleration and GrimAge components of schizophrenia or first-episode psychosis. | Shirai T et al. | β | 2024 | β |
| Meta-analysis of epigenetic aging in schizophrenia reveals multifaceted relationships with age, sex, illness duration, and polygenic risk. | Ori APS et al. | β | 2024 | β |
| Sex effects on DNA methylation affect discovery in epigenome-wide association study of schizophrenia. | Tesfaye M et al. | β | 2024 | β |
| Single-cell genomics and regulatory networks for 388 human brains. | Emani PS et al. | β | 2024 | β |
| The Association of Hippocampal Long-Term Potentiation-Induced Gene Expression with Genetic Risk for Psychosis. | Wellard NL et al. | β | 2024 | β |
| 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review. | Bouassida M et al. | β | 2023 | β |
| A Comprehensive Analysis of Cerebellar Volumes in the 22q11.2 Deletion Syndrome. | Schmitt JE et al. | β | 2023 | β |
| Copy Number Variations in Neuropsychiatric Disorders. | BΓΌki G et al. | β | 2023 | β |
| Extensive Copy Number Variation Explains Genome Size Variation in the Unicellular Zygnematophycean Alga, Closterium peracerosum-strigosum-littorale Complex. | Kawaguchi YW et al. | β | 2023 | β |
| Finding Predictors of Leg Defects in Pigs Using CNV-GWAS. | Getmantseva L et al. | β | 2023 | β |
| Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. | Unda BK et al. | β | 2023 | β |
| Rare Copy Number Variation in Schizophrenia and Implications for Treatment. | Docherty AR | β | 2023 | β |
| Review: Genes Involved in Mitochondrial Physiology Within 22q11.2 Deleted Region and Their Relevance to Schizophrenia. | Kolar D et al. | β | 2023 | β |
| Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia. | Jurisova L et al. | β | 2023 | β |
| Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus. | Paparella A et al. | β | 2023 | β |
| The contribution of copy number variants to psychiatric symptoms and cognitive ability. | Mollon J et al. | β | 2023 | β |
| Treatment-Resistant Schizophrenia, Clozapine Resistance, Genetic Associations, and Implications for Precision Psychiatry: A Scoping Review. | Ying J et al. | β | 2023 | β |
| Unanswered questions in the regulation and function of the duplicated Ξ±7 nicotinic receptor gene CHRFAM7A. | Leonard S et al. | β | 2023 | β |
| A shortest path-based approach for copy number variation detection from next-generation sequencing data. | Liu G et al. | β | 2022 | β |
| Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders. | Calle SΓ‘nchez X et al. | β | 2022 | β |
| Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder. | Kushima I et al. | β | 2022 | β |
| Delta-Catenin as a Modulator of Rho GTPases in Neurons. | Donta MS et al. | β | 2022 | β |
| Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype. | Yoshikawa A et al. | β | 2022 | β |
| From DNA human sequence to the chromatin higher order organisation and its biological meaning: Using biomolecular interaction networks to understand the influence of structural variation on spatial genome organisation and its functional effect. | ChiliΕski M et al. | β | 2022 | β |
| Identification of Vulnerable Interneuron Subtypes in 15q13.3 Microdeletion Syndrome Using Single-Cell Transcriptomics. | Malwade S et al. | β | 2022 | β |
| Keeping the balance: Trade-offs between human brain evolution, autism, and schizophrenia. | DuΕski E et al. | β | 2022 | β |
| Loss of neurexin-1 in Drosophila melanogaster results in altered energy metabolism and increased seizure susceptibility. | Levy KA et al. | β | 2022 | β |
| Peripheral biomarkers of treatment-resistant schizophrenia: Genetic, inflammation and stress perspectives. | Jiao S et al. | β | 2022 | β |
| Schizophrenia. | Jauhar S et al. | β | 2022 | β |
| The broad pathogenetic role of TCF7L2 in human diseases beyond type 2 diabetes. | Del Bosque-Plata L et al. | β | 2022 | β |
| The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders. | Liaci C et al. | β | 2022 | β |
| The Human-Restricted Isoform of the Ξ±7 nAChR, CHRFAM7A: A Double-Edged Sword in Neurological and Inflammatory Disorders. | Di Lascio S et al. | β | 2022 | β |
| The individual and global impact of copy-number variants on complex human traits. | Auwerx C et al. | β | 2022 | β |
| Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. | Sanders B et al. | β | 2022 | β |
| X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterization. | Kushima I et al. | β | 2022 | 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 |
| Agonal Factors Distort Gene-Expression Patterns in Human Postmortem Brains. | Dai J 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 machine learning case-control classifier for schizophrenia based on DNA methylation in blood. | Gunasekara CJ et al. | β | 2021 | β |
| A Neurodevelopment Approach for a Transitional Model of Early Onset Schizophrenia. | De Berardis D et al. | β | 2021 | β |
| Case Report: Neuroblastoma Breakpoint Family Genes Associate With 1q21 Copy Number Variation Disorders. | Zhu L et al. | β | 2021 | β |
| Clinical evaluation of patients with a neuropsychiatric risk copy number variant. | Chawner SJ et al. | β | 2021 | β |
| Critical mass: The rise of a touchscreen technology community for rodent cognitive testing. | Dumont JR et al. | β | 2021 | β |
| DeepCNV: a deep learning approach for authenticating copy number variations. | Glessner JT et al. | β | 2021 | β |
| Detection of Morphological Abnormalities in Schizophrenia: An Important Step to Identify Associated Genetic Disorders or Etiologic Subtypes. | Priol AC et al. | β | 2021 | β |
| Dissecting autism and schizophrenia through neuroimaging genomics. | Moreau CA et al. | β | 2021 | β |
| Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders. | Yoon J et al. | β | 2021 | β |
| DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia. | Hannon E et al. | β | 2021 | β |
| Dysregulation of post-transcriptional modification by copy number variable microRNAs in schizophrenia with enhanced glycation stress. | Yoshikawa A et al. | β | 2021 | β |
| Editorial overview: Rare CNV disorders and neuropsychiatric phenotypes: opportunities, challenges, solutions. | Mulle JG et al. | β | 2021 | β |
| Ethnicity-dependent effects of Zinc finger 804A variant on schizophrenia: a systematic review and meta-analysis. | Wang D et al. | β | 2021 | β |
| Familial Psychosis Associated With a Missense Mutation at <i>MACF1</i> Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the <i>CNTN6</i> and <i>CDH13</i> Genes. | Pol-Fuster J et al. | β | 2021 | β |
| Genetic association of FMRP targets with psychiatric disorders. | Clifton NE et al. | β | 2021 | β |
| Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study. | Thygesen JH et al. | β | 2021 | β |
| Genetic-variant hotspots and hotspot clusters in the human genome facilitating adaptation while increasing instability. | Long X et al. | β | 2021 | β |
| Genome-Wide Association Analysis of Neonatal White Matter Microstructure. | Zhang J et al. | β | 2021 | β |
| Genome-wide association study followed by trans-ancestry meta-analysis identify 17 new risk loci for schizophrenia. | Liu J et al. | β | 2021 | β |
| Genome-wide study of copy number variation implicates multiple novel loci for schizophrenia risk in Han Chinese family trios. | Wu X et al. | β | 2021 | β |
| Heterozygosity of murine Crkl does not recapitulate behavioral dimensions of human 22q11.2 hemizygosity. | Yamauchi T et al. | β | 2021 | β |
| Integrative Analyses Followed by Functional Characterization Reveal TMEM180 as a Schizophrenia Risk Gene. | Wang JY et al. | β | 2021 | β |
| Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders. | Nabais MF et al. | β | 2021 | β |
| Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families. | Fatima A et al. | β | 2021 | β |
| Schizophrenia polygenic risk scores in youth mental health: preliminary associations with diagnosis, clinical stage and functioning. | Crouse JJ et al. | β | 2021 | β |
| Sex-differential DNA methylation and associated regulation networks in human brain implicated in the sex-biased risks of psychiatric disorders. | Xia Y et al. | β | 2021 | β |
| Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes. | Scott AJ et al. | β | 2021 | β |
| The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain. | Pol-Fuster J et al. | β | 2021 | β |
| The genetic basis of major depression. | Kendall KM et al. | β | 2021 | β |
| 7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability. | Paduano F et al. | β | 2020 | β |
| Age dependent association of inbreeding with risk for schizophrenia in Egypt. | McClain L et al. | β | 2020 | β |
| A study combining whole-exome sequencing and structural neuroimaging analysis for major depressive disorder. | Han KM et al. | β | 2020 | β |
| Chromosome 15q13.3 microduplications are associated with treatment refractory major depressive disorder. | McClain L et al. | β | 2020 | β |
| Common variants in FAN1, located in 15q13.3, confer risk for schizophrenia and bipolar disorder in Han Chinese. | Jian X et al. | β | 2020 | β |
| Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus. | Saito R et al. | β | 2020 | β |
| Contributions of common genetic variants to risk of schizophrenia among individuals of African and Latino ancestry. | Bigdeli TB et al. | β | 2020 | β |
| 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. | β | 2020 | β |
| Critical evaluation of copy number variant calling methods using DNA methylation. | Kilaru V et al. | β | 2020 | β |
| Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1. | Pang H et al. | β | 2020 | β |
| Do Nicotinic Receptors Modulate High-Order Cognitive Processing? | Koukouli F et al. | β | 2020 | β |
| FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability. | Clifton NE et al. | β | 2020 | β |
| Focus on Causality in ESC/iPSC-Based Modeling of Psychiatric Disorders. | Hoffmann A et al. | β | 2020 | β |
| Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways. | Hall A et al. | β | 2020 | β |
| Genetics of Childhood-onset Schizophrenia 2019Β Update. | Forsyth JK et al. | β | 2020 | β |
| Genome-wide copy number variation-, validation- and screening study implicates a new copy number polymorphism associated with suicide attempts in major depressive disorder. | Rao S et al. | β | 2020 | β |
| Genomic Variation, Evolvability, and the Paradox of Mental Illness. | Gualtieri CT | β | 2020 | β |
| Mental health is biological health: Why tackling "diseases of the mind" is an imperative for biological anthropology in the 21st century. | Syme KL et al. | β | 2020 | β |
| MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism. | Mansfield P et al. | β | 2020 | β |
| Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review. | Castronovo P et al. | β | 2020 | β |
| Rare copy number variants in individuals at clinical high risk for psychosis: Enrichment of synaptic/brain-related functional pathways. | Jagannath V et al. | β | 2020 | β |
| Regulation of NMDA glutamate receptor functions by the GluN2 subunits. | Vieira M et al. | β | 2020 | β |
| Separable neural mechanisms for the pleiotropic association of copy number variants with neuropsychiatric traits. | Reinwald JR et al. | β | 2020 | β |
| The Evolution of Stem Cells, Disease Modeling, and Drug Discovery for Neurological Disorders. | Pernia C et al. | β | 2020 | β |
| Zebrafish as a tool to study schizophrenia-associated copy number variants. | Campbell PD et al. | β | 2020 | β |
| 2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements. | Lupski JR | β | 2019 | β |
| Association of Rare Copy Number Variants With Risk of Depression. | Kendall KM et al. | β | 2019 | β |
| Can Animal Models of Copy Number Variants That Predispose to Schizophrenia Elucidate Underlying Biology? | Forsingdal A et al. | β | 2019 | β |
| Contribution of Rare Copy Number Variants toΒ Bipolar Disorder Risk Is Limited to Schizoaffective Cases. | Charney AW et al. | β | 2019 | β |
| Developmental dysfunction of prefrontal-hippocampal networks in mouse models of mental illness. | Oberlander VC et al. | β | 2019 | β |
| Endophenotypes in Schizophrenia: Digging Deeper to Identify Genetic Mechanisms. | Greenwood TA et al. | β | 2019 | β |
| Epigenetic clock analysis of blood samples from Japanese schizophrenia patients. | Okazaki S et al. | β | 2019 | β |
| Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms. | Walker RL et al. | β | 2019 | β |
| Genome-wide association study in two populations to determine genetic variants associated with Toxoplasma gondii infection and relationship to schizophrenia risk. | Wang AW et al. | β | 2019 | β |
| Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia. | Bergen SE et al. | β | 2019 | β |
| Machine learning in schizophrenia genomics, a case-control study using 5,090 exomes. | Trakadis YJ et al. | β | 2019 | β |
| Oxytocin pathway gene networks in the human brain. | Quintana DS et al. | β | 2019 | β |
| Psychiatric genetics and the structure of psychopathology. | Smoller JW et al. | β | 2019 | β |
| Reversal of proliferation deficits caused by chromosome 16p13.11 microduplication through targeting NFΞΊB signaling: an integrated study of patient-derived neuronal precursor cells, cerebral organoids and in vivo brain imaging. | Johnstone M et al. | β | 2019 | β |
| Schizophrenia and Hereditary Polyneuropathy: <i>PMP22</i> Deletion as a Common Pathophysiological Link? | Endres D et al. | β | 2019 | β |
| Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy. | Vlaskamp DRM et al. | β | 2019 | β |
| Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap. | Gandal MJ et al. | β | 2019 | β |
| Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior. | Gokhale A et al. | β | 2019 | β |
| Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. | Bodkin JA et al. | β | 2019 | β |
| Temporal dynamics of miRNAs in human DLPFC and its association with miRNA dysregulation in schizophrenia. | Hu Z et al. | β | 2019 | β |
| The genomics of major psychiatric disorders in a large pedigree from Northern Sweden. | Szatkiewicz J et al. | β | 2019 | β |
| The modular organization of the cerebral cortex: Evolutionary significance and possible links to neurodevelopmental conditions. | Casanova MF et al. | β | 2019 | β |
| Transgenic mice overexpressing miR-137 in the brain show schizophrenia-associated behavioral deficits and transcriptome profiles. | Arakawa Y et al. | β | 2019 | β |
| Translation from the Ribosome to the Clinic: Implication in Neurological Disorders and New Perspectives from Recent Advances. | Hui KK et al. | β | 2019 | β |
| Unravelling the genetic basis of schizophrenia and bipolar disorder with GWAS: A systematic review. | Prata DP et al. | β | 2019 | β |
| Whole-exome sequencing identifies variants associated with structural MRI markers in patients with bipolar disorders. | Han MR et al. | β | 2019 | β |
| Altered function and maturation of primary cortical neurons from a 22q11.2 deletion mouse model of schizophrenia. | Sun Z et al. | β | 2018 | β |
| A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. | Gennarino VA et al. | β | 2018 | β |
| An overview of medical risk factors for childhood psychosis: Implications for research and treatment. | Giannitelli M et al. | β | 2018 | β |
| Assessing the evidence for shared genetic risks across psychiatric disorders and traits. | Martin J et al. | β | 2018 | β |
| Association of copy number variation across the genome with neuropsychiatric traits in the general population. | Guyatt AL et al. | β | 2018 | β |
| Associations between polygenic risk scores for four psychiatric illnesses and brain structure using multivariate pattern recognition. | Ranlund S et al. | β | 2018 | β |
| Associations between psychosis endophenotypes across brain functional, structural, and cognitive domains. | Blakey R et al. | β | 2018 | β |
| Autosomal genetic variation is associated with DNA methylation in regions variably escaping X-chromosome inactivation. | Luijk R et al. | β | 2018 | β |
| Brain Organoids: Expanding Our Understanding of Human Development and Disease. | Chuye LB et al. | β | 2018 | β |
| CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders. | Gillentine MA et al. | β | 2018 | β |
| Cognitive development prior to onset of psychosis. | Mollon J et al. | β | 2018 | β |
| Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia. | Chang X et al. | β | 2018 | β |
| Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease. | Farrell M et al. | β | 2018 | β |
| DNA methylation age is not accelerated in brain or blood of subjects with schizophrenia. | McKinney BC et al. | β | 2018 | β |
| Double hits in schizophrenia. | Vorstman JAS et al. | β | 2018 | β |
| From Maps to Multi-dimensional Network Mechanisms of Mental Disorders. | Braun U et al. | β | 2018 | β |
| Genetic susceptibility in obsessive-compulsive disorder. | Fernandez TV et al. | β | 2018 | β |
| Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review. | Soler J et al. | β | 2018 | β |
| Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk. | Thean LF et al. | β | 2018 | β |
| Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America. | Oliveira P et al. | β | 2018 | β |
| Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. | Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu et al. | β | 2018 | β |
| Human copy number variants are enriched in regions of low mappability. | Monlong J et al. | β | 2018 | β |
| Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis. | Fiddes IT et al. | β | 2018 | β |
| Identification of a novel Dlg2 isoform differentially expressed in IFNΞ²-producing plasmacytoid dendritic cells. | Ali S et al. | β | 2018 | β |
| Induced Pluripotent Stem Cells Reveal Common Neurodevelopmental Genome Deprograming in Schizophrenia. | Narla ST et al. | β | 2018 | β |
| Interactome analysis reveals ZNF804A, a schizophrenia risk gene, as a novel component of protein translational machinery critical for embryonic neurodevelopment. | Zhou Y et al. | β | 2018 | β |
| LINE-1 retrotransposons in healthy and diseased human brain. | Suarez NA et al. | β | 2018 | β |
| Local and global chromatin interactions are altered by large genomic deletions associated with human brain development. | Zhang X et al. | β | 2018 | β |
| Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level Post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders. | Yurov YB et al. | β | 2018 | β |
| Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes. | Hartwig C et al. | β | 2018 | β |
| Neurodevelopmental synaptopathies: Insights from behaviour in rodent models of synapse gene mutations. | Luo J et al. | β | 2018 | β |
| OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. | Uddin M et al. | β | 2018 | β |
| Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia. | Teng S et al. | β | 2018 | β |
| Recent Advances in the Genetics of Schizophrenia. | Avramopoulos D | β | 2018 | β |
| Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap. | Gandal MJ et al. | β | 2018 | β |
| Surprising conservation of schizophrenia risk genes in lower organisms reflects their essential function and the evolution of genetic liability. | Kasap M et al. | β | 2018 | β |
| The Candidate Schizophrenia Risk Gene DGCR2 Regulates Early Steps of Corticogenesis. | Molinard-Chenu A et al. | β | 2018 | β |
| The emerging genetic landscape of cerebral palsy. | van Eyk CL et al. | β | 2018 | β |
| The GABRB3 Polymorphism and its Association with Schizophrenia. | Liu Y et al. | β | 2018 | β |
| The <i>DGCR5</i> long noncoding RNA may regulate expression of several schizophrenia-related genes. | Meng Q et al. | β | 2018 | β |
| The integrated landscape of causal genes and pathways in schizophrenia. | Ma C et al. | β | 2018 | β |
| The many roads to psychosis: recent advances in understanding risk and mechanisms. | Bearden CE et al. | β | 2018 | β |
| Transcriptomic signatures of schizophrenia revealed by dopamine perturbation in an ex vivo model. | Duan J et al. | β | 2018 | β |
| Versatility of multivalent orientation, inverted meiosis, and rescued fitness in holocentric chromosomal hybrids. | Lukhtanov VA et al. | β | 2018 | β |
| Whole genome sequencing of 91 multiplex schizophrenia families reveals increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity. | Khan FF et al. | β | 2018 | β |
| Advancing psychiatric genetics through dissecting heterogeneity. | Hodgson K et al. | β | 2017 | β |
| A genetic association study of CSMD1 and CSMD2 with cognitive function. | Athanasiu L et al. | β | 2017 | β |
| A mouse model of the schizophrenia-associated 1q21.1 microdeletion syndrome exhibits altered mesolimbic dopamine transmission. | Nielsen J et al. | β | 2017 | β |
| Analysis of Shared Haplotypes amongst Palauans Maps Loci for Psychotic Disorders to 4q28 and 5q23-q31. | Bodea CA et al. | β | 2017 | β |
| A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. | Gur RE et al. | β | 2017 | β |
| Application of induced pluripotent stem cells to understand neurobiological basis of bipolar disorder and schizophrenia. | Liu YN et al. | β | 2017 | β |
| A prenatal interruption of DISC1 function in the brain exhibits a lasting impact on adult behaviors, brain metabolism, and interneuron development. | Deng D et al. | β | 2017 | β |
| A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population. | Yuan J et al. | β | 2017 | β |
| Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes. | Yin J et al. | β | 2017 | β |
| CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. | Gillentine MA et al. | β | 2017 | β |
| Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies. | Rosenfeld JA et al. | β | 2017 | β |
| Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects. | Kendall KM et al. | β | 2017 | β |
| Common developmental genome deprogramming in schizophrenia - Role of Integrative Nuclear FGFR1 Signaling (INFS). | Narla ST et al. | β | 2017 | β |
| Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects. | Marshall CR et al. | β | 2017 | β |
| Copy Number Variation Disorders. | Shaikh TH | β | 2017 | β |
| Diagnosis and clinical management of duplications and deletions. | Capalbo A et al. | β | 2017 | β |
| Exploration of large, rare copy number variants associated with psychiatric and neurodevelopmental disorders in individuals with anorexia nervosa. | Yilmaz Z et al. | β | 2017 | β |
| Functional analysis of rare variants found in schizophrenia implicates a critical role for GIT1-PAK3 signaling in neuroplasticity. | Kim MJ et al. | β | 2017 | β |
| Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity. | Gilbert J et al. | β | 2017 | β |
| Genetic evidence for a role of the SREBP transcription system and lipid biosynthesis in schizophrenia and antipsychotic treatment. | Steen VM et al. | β | 2017 | β |
| Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics. | Giegling I et al. | β | 2017 | β |
| Genetics of Schizophrenia: Overview of Methods, Findings and Limitations. | Henriksen MG et al. | β | 2017 | β |
| Genetic tests in major psychiatric disorders-integrating molecular medicine with clinical psychiatry-why is it so difficult? | Demkow U et al. | β | 2017 | β |
| Genome-wide association analysis identifies common variants influencing infant brain volumes. | Xia K et al. | β | 2017 | β |
| Genome-Wide Association Study of Psychosis Proneness in the Finnish Population. | Ortega-Alonso A et al. | β | 2017 | β |
| Genomic copy number variation analysis in multiple system atrophy. | Hama Y et al. | β | 2017 | β |
| High-resolution copy number variation analysis of schizophrenia in Japan. | Kushima I et al. | β | 2017 | β |
| Identification of novel candidate disease genes from de novo exonic copy number variants. | Gambin T et al. | β | 2017 | β |
| Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia. | Lowther C et al. | β | 2017 | β |
| [Implication of human endogenous retroviruses in schizophrenia and bipolar disorder]. | Ellul P et al. | β | 2017 | β |
| Loss-of-function mutation in <i>Mirta22/Emc10</i> rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion. | Diamantopoulou A et al. | β | 2017 | β |
| Phosphorylation of CYFIP2, a component of the WAVE-regulatory complex, regulates dendritic spine density and neurite outgrowth in cultured hippocampal neurons potentially by affecting the complex assembly. | Lee Y et al. | β | 2017 | β |
| Positive Traits in the Bipolar Spectrum: The Space between Madness and Genius. | Greenwood TA | β | 2017 | β |
| Potential Value of Genomic Copy Number Variations in Schizophrenia. | Zhuo C et al. | β | 2017 | β |
| Progress in genome-wide association studies of schizophrenia in Han Chinese populations. | Yue W et al. | β | 2017 | β |
| Rare and common variants at 16p11.2 are associated with schizophrenia. | Chang H et al. | β | 2017 | β |
| Runs of homozygosity, copy number variation, and risk for depression and suicidal behavior in an Arab Bedouin kindred. | Melhem NM et al. | β | 2017 | β |
| Schizophrenia copy number variants and associative learning. | Clifton NE et al. | β | 2017 | β |
| Schizophrenia-Related Microdeletion Impairs Emotional Memory through MicroRNA-Dependent Disruption of Thalamic Inputs to the Amygdala. | Eom TY et al. | β | 2017 | β |
| [Search for risk genes in schizophrenia]. | Rujescu D | β | 2017 | β |
| Shared atypical default mode and salience network functional connectivity between autism and schizophrenia. | Chen H et al. | β | 2017 | β |
| Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype. | Bustamante ML et al. | β | 2017 | β |
| Subchronic olanzapine exposure leads to increased expression of myelination-related genes in rat fronto-medial cortex. | Ersland KM et al. | β | 2017 | β |
| SZDB: A Database for Schizophrenia Genetic Research. | Wu Y et al. | β | 2017 | β |
| The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability. | Singh T et al. | β | 2017 | β |
| The exon junction complex: a lifelong guardian of mRNA fate. | Woodward LA et al. | β | 2017 | β |
| The schizophrenia risk gene ZNF804A: clinical associations, biological mechanisms and neuronal functions. | Chang H et al. | β | 2017 | β |
| Translating advances in the molecular basis of schizophrenia into novel cognitive treatment strategies. | O'Tuathaigh CMP et al. | β | 2017 | β |
| Understanding neurodevelopmental disorders using human pluripotent stem cell-derived neurons. | Tamburini C et al. | β | 2017 | β |
| Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders. | Rutkowski TP et al. | β | 2017 | β |
| Using hiPSCs to model neuropsychiatric copy number variations (CNVs) has potential to reveal underlying disease mechanisms. | Flaherty EK et al. | β | 2017 | β |
| 15q13.3 duplication in two patients with childhood-onset schizophrenia. | Zhou D et al. | β | 2016 | β |
| Age-Dependent Specific Changes in Area CA2 of the Hippocampus and Social Memory Deficit in a Mouse Model of the 22q11.2 Deletion Syndrome. | Piskorowski RA et al. | β | 2016 | β |
| A genome-wide association study of copy number variations with umbilical hernia in swine. | Long Y et al. | β | 2016 | β |
| A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment. | Nilsson SRO et al. | β | 2016 | β |
| Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia. | Rees E et al. | β | 2016 | β |
| An integrated genetic-epigenetic analysis of schizophrenia: evidence for co-localization of genetic associations and differential DNA methylation. | Hannon E et al. | β | 2016 | β |
| Annual Research Review: Threats to the validity of child psychiatry and psychology. | Rutter M et al. | β | 2016 | β |
| A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. | Biamino E 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 |
| Asperger Syndrome and Schizophrenia: A Comparative Neuropsychological Study. | Marinopoulou M et al. | β | 2016 | β |
| Association of copy number polymorphisms at the promoter and translated region of COMT with Japanese patients with schizophrenia. | Higashiyama R et al. | β | 2016 | β |
| Association of DNA Methylation Differences With Schizophrenia in an Epigenome-Wide Association Study. | Montano C et al. | β | 2016 | β |
| Associations between social cognition, skills, and function and subclinical negative and positive symptoms in 22q11.2 deletion syndrome. | Vangkilde A et al. | β | 2016 | β |
| Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. | Green Snyder L et al. | β | 2016 | β |
| Characterizing polymorphic inversions in human genomes by single-cell sequencing. | Sanders AD et al. | β | 2016 | β |
| Clinical and Neurobiological Relevance of Current Animal Models of Autism Spectrum Disorders. | Kim KC et al. | β | 2016 | β |
| Clinical detection of deletion structural variants in whole-genome sequences. | Noll AC et al. | β | 2016 | β |
| Clinical phenotype of the recurrent 1q21.1 copy-number variant. | Bernier R et al. | β | 2016 | β |
| Common alleles contribute to schizophrenia in CNV carriers. | Tansey KE et al. | β | 2016 | β |
| Consensus paper of the WFSBP Task Force on Biological Markers: Criteria for biomarkers and endophenotypes of schizophrenia part II: Cognition, neuroimaging and genetics. | Schmitt A et al. | β | 2016 | β |
| Copy number variation associates with mortality in long-lived individuals: a genome-wide assessment. | Nygaard M et al. | β | 2016 | β |
| Different Facets of Copy Number Changes: Permanent, Transient, and Adaptive. | Mishra S et al. | β | 2016 | β |
| Disease signatures for schizophrenia and bipolar disorder using patient-derived induced pluripotent stem cells. | Watmuff B et al. | β | 2016 | β |
| Disrupted anatomic networks in the 22q11.2 deletion syndrome. | Schmitt JE et al. | β | 2016 | β |
| DNA methylation in a Scottish family multiply affected by bipolar disorder and major depressive disorder. | Walker RM et al. | β | 2016 | β |
| Gender differences in CNV burden do not confound schizophrenia CNV associations. | Han J et al. | β | 2016 | β |
| Gene Γ Environment Interactions in Schizophrenia: Evidence from Genetic Mouse Models. | Moran P et al. | β | 2016 | β |
| Gene-set analysis based on the pharmacological profiles of drugs to identify repurposing opportunities in schizophrenia. | de Jong S et al. | β | 2016 | β |
| Genetic alterations of Ξ΄-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases. | Lu Q et al. | β | 2016 | β |
| Genetics and psychotic disorders: A fresh look at consanguinity. | Dahdouh A et al. | β | 2016 | β |
| Genome-wide Analysis of the Role of Copy Number Variation in Schizophrenia Risk in Chinese. | Li Z et al. | β | 2016 | β |
| Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness. | Bigdeli TB et al. | β | 2016 | β |
| Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci. | Saadati HR et al. | β | 2016 | β |
| High mutational rates of large-scale duplication and deletion in Daphnia pulex. | Keith N et al. | β | 2016 | β |
| Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia. | Zhou Z et al. | β | 2016 | β |
| InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms. | Patel A et al. | β | 2016 | β |
| MicroRNAs: Key Regulators in the Central Nervous System and Their Implication in Neurological Diseases. | Cao DD et al. | β | 2016 | β |
| Multiscale Modeling of Gene-Behavior Associations in an Artificial Neural Network Model of Cognitive Development. | Thomas MS et al. | β | 2016 | β |
| Neurexin 1 (NRXN1) splice isoform expression during human neocortical development and aging. | Jenkins AK et al. | β | 2016 | β |
| Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation. | Need AC et al. | β | 2016 | β |
| Pathophysiological Role of HERV-W in Schizophrenia. | Aftab A et al. | β | 2016 | β |
| Perinatal Phosphatidylcholine Supplementation and Early Childhood Behavior Problems: Evidence for CHRNA7 Moderation. | Ross RG et al. | β | 2016 | β |
| Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder. | Rucker JJ et al. | β | 2016 | β |
| Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders. | Singh T et al. | β | 2016 | β |
| Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses. | Chang H et al. | β | 2016 | β |
| Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub. | Blizinsky KD et al. | β | 2016 | β |
| RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism. | Soueid J et al. | β | 2016 | β |
| Schizophrenia Spectrum Disorders in a Danish 22q11.2 Deletion Syndrome Cohort Compared to the Total Danish Population--A Nationwide Register Study. | Vangkilde A et al. | β | 2016 | β |
| The exon junction complex in neural development and neurodevelopmental disease. | McMahon JJ et al. | β | 2016 | β |
| The landscape of copy number variations in Finnish families with autism spectrum disorders. | Kanduri C et al. | β | 2016 | β |
| The molecular evolution of the vertebrate behavioural repertoire. | Grant SG | β | 2016 | β |
| Therapeutic improvements expected in the near future for schizophrenia and schizoaffective disorder: an appraisal of phase III clinical trials of schizophrenia-targeted therapies as found in US and EU clinical trial registries. | Garay RP et al. | β | 2016 | β |
| What can we learn from the high rates of schizophrenia in people with 22q11.2 deletion syndrome? | Owen MJ et al. | β | 2016 | β |
| 15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients. | Vanlerberghe C et al. | β | 2015 | β |
| A decade of structural variants: description, history and methods to detect structural variation. | EscaramΓs G et al. | β | 2015 | β |
| A genome-wide copy number variant study of suicidal behavior. | Gross JA et al. | β | 2015 | β |
| Allele-specific copy-number discovery from whole-genome and whole-exome sequencing. | Wang W et al. | β | 2015 | β |
| A New Method for Detecting Associations with Rare Copy-Number Variants. | Tzeng JY et al. | β | 2015 | β |
| Ankyrin-G regulates neurogenesis and Wnt signaling by altering the subcellular localization of Ξ²-catenin. | Durak O et al. | β | 2015 | β |
| A Statistical Method for Identifying Trait-Associated Copy Number Variants. | Jeng J et al. | β | 2015 | β |
| Bridging the translational divide: identical cognitive touchscreen testing in mice and humans carrying mutations in a disease-relevant homologous gene. | Nithianantharajah J et al. | β | 2015 | β |
| Can genomics help usher schizophrenia into the age of RDoC and DSM-6? | Fanous AH | β | 2015 | β |
| Case history and genome-wide scans for copy number variants in a family with patient having 15q11.1-q11.2 duplication and 22q11.2 deletion, and schizophrenia. | Takahashi S et al. | β | 2015 | β |
| Characterization of bipolar disorder patient-specific induced pluripotent stem cells from a family reveals neurodevelopmental and mRNA expression abnormalities. | Madison JM et al. | β | 2015 | β |
| Clinical and parental age characteristics of rare copy number variant burden in patients with schizophrenia. | Martin AK et al. | β | 2015 | β |
| Clinical Genetic Testing in Epilepsy. | Mefford HC | β | 2015 | β |
| CNVs in neuropsychiatric disorders. | Kirov G | β | 2015 | β |
| Copy number variable microRNAs in schizophrenia and their neurodevelopmental gene targets. | Warnica W et al. | β | 2015 | β |
| Copy Number Variations in DISC1 and DISC1-Interacting Partners in Major Mental Illness. | Johnstone M et al. | β | 2015 | β |
| Copy number variations in the genome of the Qatari population. | Fakhro KA et al. | β | 2015 | β |
| Decoding Advances in Psychiatric Genetics: A Focus on Neural Circuits in Rodent Models. | Heckenast JR et al. | β | 2015 | β |
| Dementia praecox redux: a systematic review of the nicotinic receptor as a target for cognitive symptoms of schizophrenia. | Rowe AR et al. | β | 2015 | β |
| Duplications in ADHD patients harbour neurobehavioural genes that are co-expressed with genes associated with hyperactivity in the mouse. | Taylor A et al. | β | 2015 | β |
| Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia. | Ingason A et al. | β | 2015 | β |
| Genetic analysis of schizophrenia and bipolar disorder reveals polygenicity but also suggests new directions for molecular interrogation. | Neale BM et al. | β | 2015 | β |
| Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders. | Heyes S et al. | β | 2015 | β |
| Genetic risk for schizophrenia: convergence on synaptic pathways involved in plasticity. | Hall J et al. | β | 2015 | β |
| Genetics and genomics of psychiatric disease. | Geschwind DH et al. | β | 2015 | β |
| Genetic studies of schizophrenia: an update. | Chen J et al. | β | 2015 | β |
| Genome-wide association study of copy number variations (CNVs) with opioid dependence. | Li D et al. | β | 2015 | β |
| Genome-Wide Study of Structural Variants in Bovine Holstein, MontbΓ©liarde and Normande Dairy Breeds. | Boussaha M et al. | β | 2015 | β |
| Genomic structural variation in affective, anxiety, and stress-related disorders. | Ono S et al. | β | 2015 | β |
| Identification and functional characterization of rare SHANK2 variants in schizophrenia. | Peykov S et al. | β | 2015 | β |
| Improved Multiplex Ligation-dependent Probe Amplification (i-MLPA) for rapid copy number variant (CNV) detection. | Saxena S et al. | β | 2015 | β |
| Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. | Hartmann C et al. | β | 2015 | β |
| Large multiallelic copy number variations in humans. | Handsaker RE et al. | β | 2015 | β |
| MicroRNAs in copy number variants in schizophrenia: misregulation of genome-wide gene expression programs. | Morrow EM | β | 2015 | β |
| Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder. | Kogan JH et al. | β | 2015 | β |
| Neurodevelopment, GABA system dysfunction, and schizophrenia. | Schmidt MJ et al. | β | 2015 | β |
| New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings. | Kotlar AV et al. | β | 2015 | β |
| No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia. | Ruderfer DM et al. | β | 2015 | β |
| Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia. | Pocklington AJ et al. | β | 2015 | β |
| NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. | Gennarino VA et al. | β | 2015 | β |
| Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly. | Mao H et al. | β | 2015 | β |
| Recurrent duplications of 17q12 associated with variable phenotypes. | Mitchell E et al. | β | 2015 | β |
| Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia. | Merner ND et al. | β | 2015 | β |
| Response to clozapine in a clinically identifiable subtype of schizophrenia. | Butcher NJ et al. | β | 2015 | β |
| Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients. | Moselhy H et al. | β | 2015 | β |
| Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases. | Lin GN et al. | β | 2015 | β |
| Structural variation mutagenesis of the human genome: Impact on disease and evolution. | Lupski JR | β | 2015 | β |
| The Danish 22q11 research initiative. | Schmock H et al. | β | 2015 | β |
| The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function. | Sinkus ML et al. | β | 2015 | β |
| The human clinical phenotypes of altered CHRNA7 copy number. | Gillentine MA et al. | β | 2015 | β |
| The impact of human copy number variation on gene expression. | Gamazon ER et al. | β | 2015 | β |
| The multiple roles of the Ξ±7 nicotinic acetylcholine receptor in modulating glutamatergic systems in the normal and diseased nervous system. | Koukouli F et al. | β | 2015 | β |
| Therapeutic Potential of Ξ±7 Nicotinic Acetylcholine Receptors. | Bertrand D et al. | β | 2015 | β |
| Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants. | Duan J et al. | β | 2015 | β |
| Two rare deletions upstream of the NRXN1 gene (2p16.3) affecting the non-coding mRNA AK127244 segregate with diverse psychopathological phenotypes in a family. | Duong LT et al. | β | 2015 | β |
| Uncovering the hidden risk architecture of the schizophrenias: confirmation in three independent genome-wide association studies. | Arnedo J et al. | β | 2015 | β |
| A competitive PCR assay confirms the association of a copy number variation in the VIPR2 gene with schizophrenia in Han Chinese. | Yuan J et al. | β | 2014 | β |
| A de novo convergence of autism genetics and molecular neuroscience. | Krumm N et al. | β | 2014 | β |
| A genome-wide CNV analysis of schizophrenia reveals a potential role for a multiple-hit model. | Rudd DS 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 |
| A Likelihood-Based Framework for Association Analysis of Allele-Specific Copy Numbers. | Hu YJ et al. | β | 2014 | β |
| A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations. | Fejgin K et al. | β | 2014 | β |
| Analysis of copy number variations at 15 schizophrenia-associated loci. | Rees E et al. | β | 2014 | β |
| An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis. | Morris DW 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 |
| A polygenic burden of rare disruptive mutations in schizophrenia. | Purcell SM et al. | β | 2014 | β |
| A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. | Zheng X et al. | β | 2014 | β |
| Association between copy number variation losses and alcohol dependence across African American and European American ethnic groups. | Ulloa AE et al. | β | 2014 | β |
| CANOES: detecting rare copy number variants from whole exome sequencing data. | Backenroth D et al. | β | 2014 | β |
| Chemical modulation of mutant mGlu1 receptors derived from deleterious GRM1 mutations found in schizophrenics. | Cho HP et al. | β | 2014 | β |
| Childhood-onset schizophrenia: what do we really know? | Bartlett J | β | 2014 | β |
| Clinical utility gene card for: 15q13.3 microdeletion syndrome. | Tropeano M et al. | β | 2014 | β |
| CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. | Rees E et al. | β | 2014 | β |
| CNVs in Epilepsy. | Mefford HC | β | 2014 | β |
| Coherent somatic mutation in autoimmune disease. | Ross KA | β | 2014 | β |
| Common variant at 16p11.2 conferring risk of psychosis. | Steinberg S et al. | β | 2014 | β |
| Comparison of the heritability of schizophrenia and endophenotypes in the COGS-1 family study. | Light G et al. | β | 2014 | β |
| Comprehensive survey of CNVs influencing gene expression in the human brain and its implications for pathophysiology. | Mehta D et al. | β | 2014 | β |
| Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. | Noor A 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 |
| Copy number variation in schizophrenia in Sweden. | Szatkiewicz JP et al. | β | 2014 | β |
| Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders. | Brand H et al. | β | 2014 | β |
| Diminishing return for increased Mappability with longer sequencing reads: implications of the k-mer distributions in the human genome. | Li W et al. | β | 2014 | β |
| Dysbindin-associated proteome in the p2 synaptosome fraction of mouse brain. | Han MH et al. | β | 2014 | β |
| (Epi)Genetic analyses of age-related macular degeneration: case-control and discordant twin studies. | Hutchinson JN et al. | β | 2014 | β |
| Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders. | Kenny EM et al. | β | 2014 | β |
| Exome sequencing and arrayCGH detection of gene sequence and copy number variation between ILS and ISS mouse strains. | Dumas L et al. | β | 2014 | β |
| Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes. | Guipponi M et al. | β | 2014 | β |
| Family history of psychosis and social, occupational and global outcome in schizophrenia: a meta-analysis. | KΓ€kelΓ€ J et al. | β | 2014 | β |
| Fine mapping on chromosome 13q32-34 and brain expression analysis implicates MYO16 in schizophrenia. | Rodriguez-Murillo L et al. | β | 2014 | β |
| Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome. | O'Bleness M et al. | β | 2014 | β |
| Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: a differential diagnosis of ceroid lipofuscinosis. | Masurel-Paulet A et al. | β | 2014 | β |
| Genetic analysis of GABRB3 at 15q12 as a candidate gene of schizophrenia. | Huang CC et al. | β | 2014 | β |
| Genetic insight of schizophrenia: past and future perspectives. | Singh S et al. | β | 2014 | β |
| Genetic modifiers and subtypes in schizophrenia: investigations of age at onset, severity, sex and family history. | Bergen SE et al. | β | 2014 | β |
| Genetic relationships between schizophrenia, bipolar disorder, and schizoaffective disorder. | Cardno AG et al. | β | 2014 | β |
| Genetics of schizophrenia. | Escudero I et al. | β | 2014 | β |
| 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. | β | 2014 | β |
| Genome-wide analysis of CNV (copy number variation) and their associations with narcolepsy in a Japanese population. | Yamasaki M et al. | β | 2014 | β |
| Genome-wide analysis of copy number variation identifies candidate gene loci associated with the progression of non-alcoholic fatty liver disease. | Zain SM et al. | β | 2014 | β |
| Genome-wide association study identified copy number variants important for appendicular lean mass. | Ran S et al. | β | 2014 | β |
| Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder. | Ramos-Quiroga JA et al. | β | 2014 | β |
| Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. | Doherty JL et al. | β | 2014 | β |
| High rate of disease-related copy number variations in childhood onset schizophrenia. | Ahn K et al. | β | 2014 | β |
| Identification of candidate single-nucleotide polymorphisms in NRXN1 related to antipsychotic treatment response in patients with schizophrenia. | Jenkins A 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 |
| Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy. | Moreira DP et al. | β | 2014 | β |
| Methylomic profiling of human brain tissue supports a neurodevelopmental origin for schizophrenia. | Pidsley R et al. | β | 2014 | β |
| MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome. | Merico D et al. | β | 2014 | β |
| Mind the gap: why many geneticists and psychological scientists have discrepant views about gene-environment interaction (GΓE) research. | Duncan LE et al. | β | 2014 | β |
| Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity. | Yoon KJ et al. | β | 2014 | β |
| Molecular convergence of neurodevelopmental disorders. | Chen ES et al. | β | 2014 | β |
| Multiple conserved regulatory domains promote Fezf2 expression in the developing cerebral cortex. | Eckler MJ et al. | β | 2014 | β |
| No evidence that runs of homozygosity are associated with schizophrenia in an Irish genome-wide association dataset. | Heron EA et al. | β | 2014 | β |
| Novel rare variants in F-box protein 45 (FBXO45) in schizophrenia. | Wang C et al. | β | 2014 | β |
| Ohnologs are overrepresented in pathogenic copy number mutations. | McLysaght A et al. | β | 2014 | β |
| Ordered subset analysis of copy number variation association with age at onset of Alzheimer's disease. | Szigeti K et al. | β | 2014 | β |
| Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability. | Antonacci F et al. | β | 2014 | β |
| Preferences regarding targeted education and risk assessment in people with a family history of major depressive disorder. | Quinn V et al. | β | 2014 | β |
| Prefrontal inefficiency is associated with polygenic risk for schizophrenia. | Walton E et al. | β | 2014 | β |
| Protein-protein interaction and pathway analyses of top schizophrenia genes reveal schizophrenia susceptibility genes converge on common molecular networks and enrichment of nucleosome (chromatin) assembly genes in schizophrenia susceptibility loci. | Luo X et al. | β | 2014 | β |
| Rare copy number variation in treatment-resistant major depressive disorder. | O'Dushlaine C et al. | β | 2014 | β |
| Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia. | Mulle JG et al. | β | 2014 | β |
| Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility. | Lang B et al. | β | 2014 | β |
| Research review: Polygenic methods and their application to psychiatric traits. | Wray NR et al. | β | 2014 | β |
| Risk genes for schizophrenia: translational opportunities for drug discovery. | Winchester CL et al. | β | 2014 | β |
| Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. | Ionita-Laza I et al. | β | 2014 | β |
| Sequence analysis of 17 NRXN1 deletions. | Enggaard Hoeffding LK et al. | β | 2014 | β |
| Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus. | Kodama S et al. | β | 2014 | β |
| Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls. | Kim J et al. | β | 2014 | β |
| Synaptic proteins and receptors defects in autism spectrum disorders. | Chen J et al. | β | 2014 | β |
| Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes. | Luo X et al. | β | 2014 | β |
| The contribution of genetic variants to disease depends on the ruler. | Witte JS et al. | β | 2014 | β |
| The emerging molecular architecture of schizophrenia, polygenic risk scores and the clinical implications for GxE research. | Iyegbe C et al. | β | 2014 | β |
| The genetic landscape of infantile spasms. | Michaud JL et al. | β | 2014 | β |
| The genetics of microdeletion and microduplication syndromes: an update. | Watson CT et al. | β | 2014 | β |
| The hidden genetics of epilepsy-a clinically important new paradigm. | Thomas RH et al. | β | 2014 | β |
| Theory of mind and the social brain: implications for understanding the genetic basis of schizophrenia. | Martin AK et al. | β | 2014 | β |
| The penetrance of copy number variations for schizophrenia and developmental delay. | Kirov G et al. | β | 2014 | β |
| The phenotypic manifestations of rare CNVs in schizophrenia. | Merikangas AK et al. | β | 2014 | β |
| The synapse in schizophrenia. | Pocklington AJ et al. | β | 2014 | β |
| Transposable elements and psychiatric disorders. | Guffanti G et al. | β | 2014 | β |
| Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data. | Fromer M et al. | β | 2014 | β |
| Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. | Goodbourn PT et al. | β | 2014 | β |
| VTET: a variable threshold exact test for identifying disease-associated copy number variations enriched in short genomic regions. | Shi J et al. | β | 2014 | β |
| Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. | Campbell CD et al. | β | 2014 | β |
| 1q21.1 Microduplication expression in adults. | Dolcetti A et al. | β | 2013 | β |
| A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation. | Bendjilali N et al. | β | 2013 | β |
| A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. | Chapman J et al. | β | 2013 | β |
| A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability. | Derks EM et al. | β | 2013 | β |
| A high-resolution enhancer atlas of the developing telencephalon. | Visel A et al. | β | 2013 | β |
| Allosteric alpha-7 nicotinic receptor modulation and P50 sensory gating in schizophrenia: a proof-of-mechanism study. | Winterer G et al. | β | 2013 | β |
| Alpha7 neuronal nicotinic receptors as a drug target in schizophrenia. | Wallace TL et al. | β | 2013 | β |
| An emerging role for Wnt and GSK3 signaling pathways in schizophrenia. | Singh KK | 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 |
| A review of genome-wide approaches to study the genetic basis for spermatogenic defects. | Aston KI et al. | β | 2013 | β |
| Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating. | Flomen RH et al. | β | 2013 | β |
| Association of the Nicotinic Receptor Ξ±7 Subunit Gene (CHRNA7) with Schizophrenia and Visual Backward Masking. | Bakanidze G et al. | β | 2013 | β |
| A stochastic inference of de novo CNV detection and association test in multiplex schizophrenia families. | Wang SH et al. | β | 2013 | β |
| "Autism-plus" spectrum disorders: intersection with psychosis and the schizophrenia spectrum. | Cochran DM et al. | β | 2013 | β |
| Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome. | Ousley OY et al. | β | 2013 | β |
| BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies. | Xu C et al. | β | 2013 | β |
| Candidate genes for schizophrenia in a mixed Brazilian population using pooled DNA. | Ota VK et al. | β | 2013 | β |
| Changing concepts and findings on autism. | Rutter M | β | 2013 | β |
| Child development and molecular genetics: 14 years later. | Plomin R | β | 2013 | β |
| Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome. | Raca G et al. | β | 2013 | β |
| CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population. | Ji W et al. | β | 2013 | β |
| CNTNAP2 polymorphisms and structural brain connectivity: a diffusion-tensor imaging study. | Clemm von Hohenberg C et al. | β | 2013 | β |
| Cognitive components in mice and humans: combining genetics and touchscreens for medical translation. | Nithianantharajah J et al. | β | 2013 | β |
| Comment on "genomic hypomethylation in the human germline associates with selective structural mutability in the human genome". | Watson CT et al. | β | 2013 | β |
| Common biological networks underlie genetic risk for alcoholism in African- and European-American populations. | Kos MZ et al. | β | 2013 | β |
| Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability. | Harris RA et al. | β | 2013 | β |
| Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients. | Talseth-Palmer BA et al. | β | 2013 | β |
| Convergence of genetic and environmental factors on parvalbumin-positive interneurons in schizophrenia. | Jiang Z 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 variants are frequent in genetic generalized epilepsy with intellectual disability. | Mullen SA et al. | β | 2013 | β |
| Copy number variants in German patients with schizophrenia. | Priebe L et al. | β | 2013 | β |
| Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders. | Hiroi N et al. | β | 2013 | β |
| Defining the contribution of CNTNAP2 to autism susceptibility. | Sampath S et al. | β | 2013 | β |
| Deletion of TOP3Ξ², a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders. | Stoll G et al. | β | 2013 | β |
| Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion. | Xu B et al. | β | 2013 | β |
| Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. | Szatkiewicz JP et al. | β | 2013 | β |
| Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. | Moreno-De-Luca A et al. | β | 2013 | β |
| Developmental delays and reduced pup ultrasonic vocalizations but normal sociability in mice lacking the postsynaptic cell adhesion protein neuroligin2. | WΓΆhr M 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 |
| DNA methylation signatures of peripheral leukocytes in schizophrenia. | Kinoshita M et al. | β | 2013 | β |
| Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? | Amiet C et al. | β | 2013 | β |
| Drosophila strategies to study psychiatric disorders. | van Alphen B et al. | β | 2013 | β |
| Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets. | Degenhardt F et al. | β | 2013 | β |
| Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. | MΓΈller RS et al. | β | 2013 | β |
| Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. | Vorstman JA et al. | β | 2013 | β |
| Familial cosegregation of rare genetic variants with disease in complex disorders. | Helbig I et al. | β | 2013 | β |
| Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models. | Zeng L et al. | β | 2013 | β |
| Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy. | Campbell IM et al. | β | 2013 | β |
| Gene expression analysis reveals schizophrenia-associated dysregulation of immune pathways in peripheral blood mononuclear cells. | Gardiner EJ et al. | β | 2013 | β |
| Genetic architecture of reciprocal CNVs. | Golzio C et al. | β | 2013 | β |
| Genome-wide assessment of the association of rare and common copy number variations to testicular germ cell cancer. | EdsgΓ€rd D et al. | β | 2013 | β |
| Genome-wide association analysis of copy number variation in recurrent depressive disorder. | Rucker JJ et al. | β | 2013 | β |
| Genome-wide association study of Tourette's syndrome. | Scharf JM et al. | β | 2013 | β |
| Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia. | Greenwood TA et al. | β | 2013 | β |
| Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. | Lindgren AM et al. | β | 2013 | β |
| Height matters-from monogenic disorders to normal variation. | Durand C et al. | β | 2013 | β |
| Human endogenous retrovirus type W (HERV-W) in schizophrenia: a new avenue of research at the gene-environment interface. | Leboyer M et al. | β | 2013 | β |
| Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. | Hoppman-Chaney N et al. | β | 2013 | β |
| Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation. | Szatkiewicz JP 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 |
| Increased paternal age and the influence on burden of genomic copy number variation in the general population. | Buizer-Voskamp JE et al. | β | 2013 | β |
| Investigation of NRXN1 deletions: clinical and molecular characterization. | Dabell MP et al. | β | 2013 | β |
| Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. | Tropeano M et al. | β | 2013 | β |
| MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review. | Forstner AJ et al. | β | 2013 | β |
| Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. | Chen X et al. | β | 2013 | β |
| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. | BΓ©na F et al. | β | 2013 | β |
| Molecular genetic gene-environment studies using candidate genes in schizophrenia: a systematic review. | Modinos G et al. | β | 2013 | β |
| Mosaic copy number variation in schizophrenia. | Ruderfer DM et al. | β | 2013 | β |
| Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. | Park G et al. | β | 2013 | β |
| NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. | Dittwald P et al. | β | 2013 | β |
| Neurodevelopment in schizophrenia: the role of the wnt pathways. | Panaccione I et al. | β | 2013 | β |
| New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome. | Albers CA et al. | β | 2013 | β |
| Next-generation sequencing in schizophrenia and other neuropsychiatric disorders. | Schreiber M et al. | β | 2013 | β |
| Nicotinic acetylcholine receptors: from basic science to therapeutics. | Hurst R et al. | β | 2013 | β |
| No association between general cognitive ability and rare copy number variation. | McRae AF et al. | β | 2013 | β |
| No effect of genome-wide copy number variation on measures of intelligence in a New Zealand birth cohort. | Bagshaw AT et al. | β | 2013 | β |
| No evidence that common genetic risk variation is shared between schizophrenia and autism. | Vorstman JA et al. | β | 2013 | β |
| Nogo and Nogo receptor: relevance to schizophrenia? | Willi R et al. | β | 2013 | β |
| Orchestration of neurodevelopmental programs by RBFOX1: implications for autism spectrum disorder. | Bill BR et al. | β | 2013 | β |
| Pathogenic or not? Assessing the clinical relevance of copy number variants. | Hehir-Kwa JY 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 |
| Potential Impact of miR-137 and Its Targets in Schizophrenia. | Wright C et al. | β | 2013 | β |
| Practice parameter for the assessment and treatment of children and adolescents with schizophrenia. | McClellan J et al. | β | 2013 | β |
| Preclinical models of antipsychotic drug action. | Moreno JL et al. | β | 2013 | β |
| Prenatal stress induces schizophrenia-like alterations of serotonin 2A and metabotropic glutamate 2 receptors in the adult offspring: role of maternal immune system. | Holloway T et al. | β | 2013 | β |
| Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns. | Tucker T et al. | β | 2013 | β |
| Principal components of heritability from neurocognitive domains differ between families with schizophrenia and control subjects. | Wiener H et al. | β | 2013 | β |
| Progress in imaging the effects of psychosis susceptibility gene variants. | Redpath HL 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 exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures. | Lionel AC et al. | β | 2013 | β |
| Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays. | Shuvarikov A et al. | β | 2013 | β |
| Reduced burden of very large and rare CNVs in bipolar affective disorder. | Grozeva D et al. | β | 2013 | β |
| Risk architecture of schizophrenia: the role of epigenetics. | Svrakic DM et al. | β | 2013 | β |
| Schizophrenia at a genetics crossroads: where to now? | Corvin A | β | 2013 | β |
| Schizophrenia susceptibility and age of diagnosis--a frailty approach. | Svensson E et al. | β | 2013 | β |
| Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network. | Gulsuner S et al. | β | 2013 | β |
| Synaptic scaffold evolution generated components of vertebrate cognitive complexity. | Nithianantharajah J et al. | β | 2013 | β |
| Testing long-term memory in animal models of schizophrenia: suggestions from CNTRICS. | Bussey TJ et al. | β | 2013 | β |
| The current state of play on the molecular genetics of depression. | Cohen-Woods S et al. | β | 2013 | β |
| The effect of clozapine on mRNA expression for genes encoding G protein-coupled receptors and the protein components of clathrin-mediated endocytosis. | Sharp SI et al. | β | 2013 | β |
| The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants. | Mowry BJ et al. | β | 2013 | β |
| The evolutionary paradox and the missing heritability of schizophrenia. | van Dongen J et al. | β | 2013 | β |
| The genetic landscapes of autism spectrum disorders. | Huguet G et al. | β | 2013 | β |
| The genomically mosaic brain: aneuploidy and more in neural diversity and disease. | Bushman DM et al. | β | 2013 | β |
| The genomic psychiatry cohort: partners in discovery. | Pato MT et al. | β | 2013 | β |
| The genomics of schizophrenia: update and implications. | Giusti-RodrΓguez P et al. | β | 2013 | β |
| The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. | Valsesia A et al. | β | 2013 | β |
| The impact of copy number deletions on general cognitive ability and ventricle size in patients with schizophrenia and healthy control subjects. | Yeo RA et al. | β | 2013 | β |
| The Top3Ξ² way to untangle RNA. | Nott A et al. | β | 2013 | β |
| The unexpected role of copy number variations in juvenile myoclonic epilepsy. | Helbig I et al. | β | 2013 | β |
| Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy. | Thomas RH et al. | β | 2013 | β |
| Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. | Moreno-De-Luca D et al. | β | 2013 | β |
| Using population admixture to help complete maps of the human genome. | Genovese G et al. | β | 2013 | β |
| What psychiatric genetics has taught us about the nature of psychiatric illness and what is left to learn. | Kendler KS | β | 2013 | β |
| 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features. | Abdelmoity AT et al. | β | 2012 | β |
| A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. | Lacaria M et al. | β | 2012 | β |
| Advanced paternal age increases the risk of schizophrenia and obsessive-compulsive disorder in a Chinese Han population. | Wu Y et al. | β | 2012 | β |
| Age-dependent microRNA control of synaptic plasticity in 22q11 deletion syndrome and schizophrenia. | Earls LR et al. | β | 2012 | β |
| A genetic model for neurodevelopmental disease. | Coe BP et al. | β | 2012 | β |
| Akt1 deficiency in schizophrenia and impairment of hippocampal plasticity and function. | Balu DT et al. | β | 2012 | β |
| Algorithm implementation for CNV discovery using Affymetrix and Illumina SNP array data. | Winchester L et al. | β | 2012 | β |
| Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brain. | Harper KM et al. | β | 2012 | β |
| Analysis of copy number variations in brain DNA from patients with schizophrenia and other psychiatric disorders. | Ye T et al. | β | 2012 | β |
| Analysis of the DISC1 translocation partner (11q14.3) in genetic risk of schizophrenia. | Debono R 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 |
| An integrative segmentation method for detecting germline copy number variations in SNP arrays. | Shi J et al. | β | 2012 | β |
| Annual research review: impact of advances in genetics in understanding developmental psychopathology. | Addington AM et al. | β | 2012 | β |
| A novel X-linked disorder with developmental delay and autistic features. | Kaya N et al. | β | 2012 | β |
| A pilot study on collective effects of 22q13.31 deletions on gray matter concentration in schizophrenia. | Liu J et al. | β | 2012 | β |
| Association between copy number variants in 16p11.2 and major depressive disorder in a German case-control sample. | Degenhardt F et al. | β | 2012 | β |
| Association study of nonsynonymous single nucleotide polymorphisms in schizophrenia. | Carrera N et al. | β | 2012 | β |
| Association testing of copy number variants in schizophrenia and autism spectrum disorders. | Crespi BJ et al. | β | 2012 | β |
| Avoiding mouse traps in schizophrenia genetics: lessons and promises from current and emerging mouse models. | Kvajo M et al. | β | 2012 | β |
| Bayesian model to detect phenotype-specific genes for copy number data. | GonzΓ‘lez JR et al. | β | 2012 | β |
| Can genetics inform the management of cognitive deficits in schizophrenia? | Vyas NS et al. | β | 2012 | β |
| Chapter 6: Structural variation and medical genomics. | Raphael BJ | β | 2012 | β |
| Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era. | Costain G et al. | β | 2012 | β |
| CNVs: harbingers of a rare variant revolution in psychiatric genetics. | Malhotra D et al. | β | 2012 | β |
| Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis. | Goldenberg PC et al. | β | 2012 | β |
| Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. | Soemedi R et al. | β | 2012 | β |
| Contributions of the D-serine pathway to schizophrenia. | Labrie V et al. | β | 2012 | β |
| Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice? | Van de Kerkhof NW et al. | β | 2012 | β |
| Copy number variation in subjects with major depressive disorder who attempted suicide. | Perlis RH et al. | β | 2012 | β |
| Copy number variations in neurodevelopmental disorders. | Grayton HM et al. | β | 2012 | β |
| Current understanding of human genetics and genetic analysis of psoriasis. | Oka A et al. | β | 2012 | β |
| De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. | Kirov G et al. | β | 2012 | β |
| De novo mutation in schizophrenia. | Rees E et al. | β | 2012 | β |
| Detection and characterization of copy number variation in autism spectrum disorder. | Marshall CR et al. | β | 2012 | β |
| Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. | Fromer M et al. | β | 2012 | β |
| DNA methylation in schizophrenia: progress and challenges of epigenetic studies. | Nishioka M et al. | β | 2012 | β |
| Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. | Griswold AJ et al. | β | 2012 | β |
| Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses. | Visscher PM et al. | β | 2012 | β |
| Evidence of aberrant DNA damage response signalling but normal rates of DNA repair in dividing lymphoblasts from patients with schizophrenia. | Catts VS et al. | β | 2012 | β |
| Evolutionary history and genome organization of DUF1220 protein domains. | O'Bleness MS et al. | β | 2012 | β |
| Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia. | Need AC et al. | β | 2012 | β |
| Exploring the role of copy number variants in human adaptation. | Iskow RC et al. | β | 2012 | β |
| Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder. | Veenstra-VanderWeele J et al. | β | 2012 | β |
| GABA system dysfunction in autism and related disorders: from synapse to symptoms. | Coghlan S et al. | β | 2012 | β |
| Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. | Leblond CS et al. | β | 2012 | β |
| Genetic copy number variation and general cognitive ability. | MacLeod AK et al. | β | 2012 | β |
| Genetics of schizophrenia from a clinicial perspective. | Kukshal P et al. | β | 2012 | β |
| Genetics of the schizophrenias: a model accounting for their persistence and myriad phenotypes. | Boshes RA et al. | β | 2012 | β |
| Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. | Williams NM et al. | 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 association study identifies a maternal copy-number deletion in PSG11 enriched among preeclampsia patients. | Zhao L et al. | β | 2012 | β |
| Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia. | Irish Schizophrenia Genomics Consortium and the Wellcome Trust Case Control Consortium 2 | β | 2012 | β |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. | Bergen SE et al. | β | 2012 | β |
| Genome-wide association study of copy number variants suggests LTBP1 and FGD4 are important for alcohol drinking. | Pei YF et al. | β | 2012 | β |
| Genome-wide association study of multiplex schizophrenia pedigrees. | Levinson DF et al. | β | 2012 | β |
| Genome-wide copy number analysis uncovers a new HSCR gene: NRG3. | Tang CS et al. | β | 2012 | β |
| Genome-wide copy number variation association analyses for age at menarche. | Liu YZ et al. | β | 2012 | β |
| Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder. | Priebe L et al. | β | 2012 | β |
| Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome. | Li J et al. | β | 2012 | β |
| Genomics, intellectual disability, and autism. | Mefford HC et al. | β | 2012 | β |
| Genomics of behavioral diseases. | Rogaev EI | β | 2012 | β |
| Genomic structural variation in psychiatric disorders. | Rucker JJ et al. | β | 2012 | β |
| Genomic tics in tourette syndrome. | Mulle JG et al. | β | 2012 | β |
| Genovar: a detection and visualization tool for genomic variants. | Jung KS et al. | β | 2012 | β |
| Germline copy number variation and ovarian cancer survival. | Fridley BL et al. | β | 2012 | β |
| Glutamatergic synaptic dysregulation in schizophrenia: therapeutic implications. | Coyle JT et al. | β | 2012 | β |
| HDAC9 is implicated in schizophrenia and expressed specifically in post-mitotic neurons but not in adult neural stem cells. | Lang B et al. | β | 2012 | β |
| Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. | Ernst C et al. | β | 2012 | β |
| How many genes are involved in schizophrenia? A simple simulation. | Paek MJ et al. | β | 2012 | β |
| Human genetics of schizophrenia. | Claes S et al. | β | 2012 | β |
| Hypothesis-driven candidate genes for schizophrenia compared to genome-wide association results. | Collins AL et al. | β | 2012 | β |
| Identification and characterization of three inherited genomic copy number variations associated with familial schizophrenia. | Liao HM et al. | β | 2012 | β |
| Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. | Van Den Bossche MJ et al. | β | 2012 | β |
| Implications of gene copy-number variation in health and diseases. | Almal SH et al. | β | 2012 | β |
| Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. | Grozeva D et al. | β | 2012 | β |
| Inheritance model introduces differential bias in CNV calls between parents and offspring. | Kim S et al. | β | 2012 | β |
| Involvement of PTPN5, the gene encoding the striatal-enriched protein tyrosine phosphatase, in schizophrenia and cognition. | Pelov I et al. | β | 2012 | β |
| Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing. | Askland K et al. | β | 2012 | β |
| Is autism spectrum disorder common in schizophrenia? | Unenge HallerbΓ€ck M et al. | β | 2012 | β |
| Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder. | Graw SL et al. | β | 2012 | β |
| Lessons from model organisms: phenotypic robustness and missing heritability in complex disease. | Queitsch C et al. | β | 2012 | β |
| Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder. | Mitchell MM et al. | β | 2012 | β |
| MAGI1 copy number variation in bipolar affective disorder and schizophrenia. | Karlsson R et al. | β | 2012 | β |
| Meeting report: the Schizophrenia International Research Society (SIRS) South America Conference (August 5-7, 2011). | Massuda R et al. | β | 2012 | β |
| Microdeletion and microduplication syndromes. | Vissers LE et al. | β | 2012 | β |
| Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia. | Lee Y et al. | β | 2012 | β |
| MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction. | Xu B et al. | β | 2012 | β |
| Multiple genes in the 15q13-q14 chromosomal region are associated with schizophrenia. | Stephens SH et al. | β | 2012 | β |
| Neurodevelopmental model of schizophrenia: update 2012. | Rapoport JL et al. | β | 2012 | β |
| New frontiers in animal research of psychiatric illness. | Kaffman A et al. | β | 2012 | β |
| New translational assays for preclinical modelling of cognition in schizophrenia: the touchscreen testing method for mice and rats. | Bussey TJ et al. | β | 2012 | β |
| Nicotinic mechanisms in the treatment of psychotic disorders: a focus on the Ξ±7 nicotinic receptor. | Olincy A et al. | β | 2012 | β |
| NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy. | Jiang Y et al. | β | 2012 | β |
| Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior. | Heck DH et al. | β | 2012 | β |
| Prenatal nutrition, epigenetics and schizophrenia risk: can we test causal effects? | Kirkbride JB et al. | β | 2012 | β |
| Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. | Rosenfeld JA et al. | β | 2012 | β |
| Quantitative proteomic and genetic analyses of the schizophrenia susceptibility factor dysbindin identify novel roles of the biogenesis of lysosome-related organelles complex 1. | Gokhale A et al. | β | 2012 | β |
| Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? | Van Den Bossche MJ et al. | β | 2012 | β |
| Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism. | Fernandez TV et al. | β | 2012 | β |
| Rare copy number variants observed in hereditary breast cancer cases disrupt genes in estrogen signaling and TP53 tumor suppression network. | PylkΓ€s K et al. | β | 2012 | β |
| Rare deletions at the neurexin 3 locus in autism spectrum disorder. | Vaags AK et al. | β | 2012 | β |
| Rare genomic deletions and duplications and their role in neurodevelopmental disorders. | Glessner JT et al. | β | 2012 | β |
| Re-analysis of bipolar disorder and schizophrenia gene expression complements the Kraepelinian dichotomy. | Qian K et al. | β | 2012 | β |
| Recent genomic advances in schizophrenia. | Doherty JL et al. | β | 2012 | β |
| Relationships between exploratory eye movement dysfunction and clinical symptoms in schizophrenia. | Suzuki M et al. | β | 2012 | β |
| Robust Detection and Identification of Sparse Segments in Ultra-High Dimensional Data Analysis. | Cai TT et al. | β | 2012 | β |
| Role of copy number variants in structural birth defects. | Southard AE et al. | β | 2012 | β |
| Safety of L-proline as a stabilizer for immunoglobulin products. | Hagan JB et al. | β | 2012 | β |
| Schizophrenia genes: on the matter of their convergence. | Rujescu D | β | 2012 | β |
| Schizophrenia genetics: progress, at last. | Mulle JG | β | 2012 | β |
| Schizophrenia genetics: putting all the pieces together. | Girard SL et al. | β | 2012 | β |
| Schizophrenia shows a unique metabolomics signature in plasma. | He Y et al. | β | 2012 | β |
| Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients. | SΓΈrensen KM et al. | β | 2012 | β |
| Susceptibility genes for schizophrenia: mutant models, endophenotypes and psychobiology. | O'Tuathaigh CM et al. | β | 2012 | β |
| Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases. | Lee HJ et al. | β | 2012 | β |
| Tau's role in the developing brain: implications for intellectual disability. | Sapir T et al. | β | 2012 | β |
| The cognitive genetics of neuropsychiatric disorders. | Corvin A et al. | β | 2012 | β |
| The genetic architecture of schizophrenia: new mutations and emerging paradigms. | Rodriguez-Murillo L et al. | β | 2012 | β |
| The genetic variability and commonality of neurodevelopmental disease. | Coe BP et al. | β | 2012 | β |
| The hunt for gene effects pertinent to behavioral traits and psychiatric disorders: from mouse to human. | Wahlsten D | β | 2012 | β |
| The impact of errors in copy number variation detection algorithms on association results. | Wineinger NE et al. | β | 2012 | β |
| The mitosis and neurodevelopment proteins NDE1 and NDEL1 form dimers, tetramers, and polymers with a folded back structure in solution. | Soares DC et al. | β | 2012 | β |
| The role of neurexins in schizophrenia and autistic spectrum disorder. | Reichelt AC et al. | β | 2012 | β |
| Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. | Kim HG et al. | β | 2012 | β |
| Use of RNA interference by in utero electroporation to study cortical development: the example of the doublecortin superfamily. | Reiner O et al. | β | 2012 | β |
| Using ERDS to infer copy-number variants in high-coverage genomes. | Zhu M et al. | β | 2012 | β |
| Using multivariate machine learning methods and structural MRI to classify childhood onset schizophrenia and healthy controls. | Greenstein D et al. | β | 2012 | β |
| What is complex about complex disorders? | Mitchell KJ | β | 2012 | β |
| Whole-genome sequencing in personalized therapeutics. | Cordero P et al. | β | 2012 | β |
| 16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. | Ramalingam A et al. | β | 2011 | β |
| Accuracy of CNV Detection from GWAS Data. | Zhang D et al. | β | 2011 | β |
| A copy number variation morbidity map of developmental delay. | Cooper GM et al. | β | 2011 | β |
| After GWAS: searching for genetic risk for schizophrenia and bipolar disorder. | Gershon ES et al. | β | 2011 | β |
| A genomic point-of-view on environmental factors influencing the human brain methylome. | LaSalle JM | β | 2011 | β |
| Age of onset of schizophrenia: perspectives from structural neuroimaging studies. | Gogtay N et al. | β | 2011 | β |
| Alterations in the expression of neuronal chloride transporters may contribute to schizophrenia. | Kalkman HO | β | 2011 | β |
| Analysis of genetic deletions and duplications in the University College London bipolar disorder case control sample. | McQuillin A et al. | β | 2011 | β |
| Analysis of neurogranin (NRGN) in schizophrenia. | Smith RL et al. | β | 2011 | β |
| An emerging 1q21.1 deletion-associated neurodevelopmental phenotype. | Basel-Vanagaite L et al. | β | 2011 | β |
| An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. | Kaminsky EB et al. | β | 2011 | β |
| An examination of single nucleotide polymorphism selection prioritization strategies for tests of gene-gene interaction. | Moskvina V et al. | β | 2011 | β |
| An optimal weighted aggregated association test for identification of rare variants involved in common diseases. | Sul JH et al. | β | 2011 | β |
| A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion. | Banka S et al. | β | 2011 | β |
| A pipeline for copy number variation detection based on principal component analysis. | Chen J et al. | β | 2011 | β |
| A population genetic approach to mapping neurological disorder genes using deep resequencing. | Myers RA et al. | β | 2011 | β |
| Are we going to end up with many distinct genomic syndromes in psychiatry? | Rujescu D | β | 2011 | β |
| Array-based MLPA to detect recurrent copy number variations in patients with idiopathic mental retardation. | Rooms L et al. | β | 2011 | β |
| A scan statistic to extract causal gene clusters from case-control genome-wide rare CNV data. | Nishiyama T et al. | β | 2011 | β |
| A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features. | Liao J et al. | β | 2011 | β |
| Assessing the contribution family data can make to case-control studies of rare variants. | Curtis D | β | 2011 | β |
| Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. | Talkowski ME et al. | β | 2011 | β |
| Assessment of copy number variation using the Illumina Infinium 1M SNP-array: a comparison of methodological approaches in the Spanish Bladder Cancer/EPICURO study. | Marenne G et al. | β | 2011 | β |
| Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia. | Ferreira MA et al. | β | 2011 | β |
| A systematic review and meta-analysis of the fertility of patients with schizophrenia and their unaffected relatives. | Bundy H et al. | β | 2011 | β |
| Autosome-wide copy number variation association analysis for rheumatoid arthritis using the WTCCC high-density SNP genotype data. | Uddin M et al. | β | 2011 | β |
| Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array. | Cardin N et al. | β | 2011 | β |
| Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. | Curtis D et al. | β | 2011 | β |
| Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene. | Mullin AP et al. | β | 2011 | β |
| Clan genomics and the complex architecture of human disease. | Lupski JR et al. | β | 2011 | β |
| Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder. | Frank RA et al. | β | 2011 | β |
| Common DISC1 polymorphisms disrupt Wnt/GSK3Ξ² signaling and brain development. | Singh KK et al. | β | 2011 | β |
| Comparative genetic approaches to the evolution of human brain and behavior. | Vallender EJ | β | 2011 | β |
| Comparative immunogenetics of autism and schizophrenia. | Crespi BJ et al. | β | 2011 | β |
| Comparative linkage meta-analysis reveals regionally-distinct, disparate genetic architectures: application to bipolar disorder and schizophrenia. | Tang B et al. | β | 2011 | β |
| Concise review: the promise of human induced pluripotent stem cell-based studies of schizophrenia. | Brennand KJ et al. | β | 2011 | β |
| Copy number and SNP arrays in clinical diagnostics. | Schaaf CP et al. | β | 2011 | β |
| Copy number variants: a new molecular frontier in clinical psychiatry. | Moreno-De-Luca D et al. | β | 2011 | β |
| Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees. | Melhem N et al. | β | 2011 | β |
| Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. | Levinson DF et al. | β | 2011 | β |
| Copy number variants on the X chromosome in women with primary ovarian insufficiency. | Knauff EA et al. | β | 2011 | β |
| Copy number variation. | Wain LV et al. | β | 2011 | β |
| Copy number variation across European populations. | Chen W et al. | β | 2011 | β |
| Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. | Xi R et al. | β | 2011 | β |
| Copy number variations of chromosome 16p13.1 region associated with schizophrenia. | Ingason A et al. | β | 2011 | β |
| Decanalization, brain development and risk of schizophrenia. | McGrath JJ et al. | β | 2011 | β |
| De novo rates and selection of schizophrenia-associated copy number variants. | Rees E et al. | β | 2011 | β |
| Developments in schizophrenia genetics: from linkage to microchips, deletions and duplications. | Haraldsson HM et al. | β | 2011 | β |
| Different transcription activity of HERV-K LTR-containing and LTR-lacking genes of the KIAA1245/NBPF gene subfamily. | Abrarova N et al. | β | 2011 | β |
| Diminished cerebral inhibition in neonates associated with risk factors for schizophrenia: parental psychosis, maternal depression, and nicotine use. | Hunter SK et al. | β | 2011 | β |
| DISC1 in schizophrenia: genetic mouse models and human genomic imaging. | Johnstone M et al. | β | 2011 | β |
| Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia. | Poot M et al. | β | 2011 | β |
| Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. | Horev G et al. | β | 2011 | β |
| Drosophila as a model organism for the study of neuropsychiatric disorders. | O'Kane CJ | β | 2011 | β |
| Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. | Vacic V et al. | β | 2011 | β |
| Evaluation of an approximation method for assessment of overall significance of multiple-dependent tests in a genomewide association study. | Moskvina V et al. | β | 2011 | β |
| Exome sequencing supports a de novo mutational paradigm for schizophrenia. | Xu B et al. | β | 2011 | β |
| Expanding the range of ZNF804A variants conferring risk of psychosis. | Steinberg S et al. | β | 2011 | β |
| Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. | Williams HJ et al. | β | 2011 | β |
| Following the genes: a framework for animal modeling of psychiatric disorders. | Mitchell KJ et al. | β | 2011 | β |
| Genetic contribution to common epilepsies. | Sisodiya SM et al. | β | 2011 | β |
| Genetic regulation of Nrxn1 [corrected] expression: an integrative cross-species analysis of schizophrenia candidate genes. | Mozhui K et al. | β | 2011 | β |
| Genetics of schizophrenia: new findings and challenges. | Gejman PV et al. | 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 analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. | Buizer-Voskamp JE et al. | β | 2011 | β |
| Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. | Dauber A et al. | β | 2011 | β |
| Genome-wide investigation of rare structural variants identifies VIPR2 as a new candidate gene for schizophrenia. | Nieratschker V et al. | β | 2011 | β |
| Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder. | Vu TH et al. | β | 2011 | β |
| Genomics and pharmacogenomics of schizophrenia. | Cacabelos R et al. | β | 2011 | β |
| High frequencies of de novo CNVs in bipolar disorder and schizophrenia. | Malhotra D et al. | β | 2011 | β |
| High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy. | Stewart LR et al. | β | 2011 | β |
| Hippocampal Ξ±7 nicotinic acetylcholine receptor levels in patients with schizophrenia, bipolar disorder, or major depressive disorder. | Thomsen MS et al. | β | 2011 | β |
| Human copy number variation and complex genetic disease. | Girirajan S et al. | β | 2011 | β |
| Human genetics and genomics a decade after the release of the draft sequence of the human genome. | Naidoo N et al. | β | 2011 | β |
| Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression. | Ben-David E et al. | β | 2011 | β |
| Increased de novo copy number variants in the offspring of older males. | Flatscher-Bader T et al. | β | 2011 | β |
| Increasing power of groupwise association test with likelihood ratio test. | Sul JH et al. | β | 2011 | β |
| Inferring haplotypes of copy number variations from high-throughput data with uncertainty. | Kato M et al. | β | 2011 | β |
| Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. | Fullston T et al. | β | 2011 | β |
| Initial impact of the sequencing of the human genome. | Lander ES | β | 2011 | β |
| Integrated genetic and genomic approach in the SingaporeTranslational and Clinical Research in Psychosis Study: an overview. | Sim K et al. | β | 2011 | β |
| Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research. | Sankaranarayanan K et al. | β | 2011 | β |
| Knockdown of mental disorder susceptibility genes disrupts neuronal network physiology in vitro. | MacLaren EJ et al. | β | 2011 | β |
| Large common deletions associate with mortality at old age. | Kuningas M et al. | β | 2011 | β |
| Mapping rare and common causal alleles for complex human diseases. | Raychaudhuri S | β | 2011 | β |
| Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness. | Ingason A et al. | β | 2011 | β |
| Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. | Goldmuntz E et al. | β | 2011 | β |
| Modelling schizophrenia using human induced pluripotent stem cells. | Brennand KJ et al. | β | 2011 | β |
| Molecular mechanisms in 22q11 deletion syndrome. | Williams NM | β | 2011 | β |
| Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility. | O'Dushlaine C et al. | β | 2011 | β |
| Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. | Sanders SJ et al. | β | 2011 | β |
| Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia. | Carroll LS et al. | β | 2011 | β |
| Neurobiology and phenotypic expression in early onset schizophrenia. | Vyas NS et al. | β | 2011 | β |
| Oligonucleotide microarrays in constitutional genetic diagnosis. | Keren B et al. | β | 2011 | β |
| Pharmaco-genetically guided treatment of recurrent rage outbursts in an adult male with 15q13.3 deletion syndrome. | Cubells JF et al. | β | 2011 | β |
| Phenotype mining in CNV carriers from a population cohort. | PietilΓ€inen OP et al. | β | 2011 | β |
| Progress in defining the biological causes of schizophrenia. | Pickard B | β | 2011 | β |
| Progress in understanding autism: 2007-2010. | Rutter ML | β | 2011 | β |
| Proton magnetic resonance spectroscopy in 22q11 deletion syndrome. | da Silva Alves F et al. | β | 2011 | β |
| Rare copy number deletions predict individual variation in human brain metabolite concentrations in individuals with alcohol use disorders. | Yeo RA et al. | β | 2011 | β |
| Rare copy number deletions predict individual variation in intelligence. | Yeo RA et al. | β | 2011 | β |
| Rare copy number variants are an important cause of epileptic encephalopathies. | Mefford HC et al. | β | 2011 | β |
| Relative burden of large CNVs on a range of neurodevelopmental phenotypes. | Girirajan S et al. | β | 2011 | β |
| Resequencing and follow-up of neurexin 1 (NRXN1) in schizophrenia patients. | MΓΌhleisen TW et al. | β | 2011 | β |
| Rethinking the genetic architecture of schizophrenia. | Mitchell KJ et al. | β | 2011 | β |
| Schizophrenia, "Just the Facts" 6. Moving ahead with the schizophrenia concept: from the elephant to the mouse. | Keshavan MS et al. | β | 2011 | β |
| Schizophrenia risk genes: Implications for future drug development and discovery. | O'Connell G et al. | β | 2011 | β |
| Synthetic associations created by rare variants do not explain most GWAS results. | Wray NR et al. | β | 2011 | β |
| The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. | Drew LJ et al. | β | 2011 | β |
| The axon initial segment in nervous system disease and injury. | Buffington SA et al. | β | 2011 | β |
| The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of Ξ±7*nAChR function. | Araud T et al. | β | 2011 | β |
| The effects of aging vs. Ξ±7 nAChR subunit deficiency on the mouse brain transcriptome: aging beats the deficiency. | Kedmi M et al. | β | 2011 | β |
| The emergence of human-evolutionary medical genomics. | Crespi BJ | β | 2011 | β |
| The genetics of neurodevelopmental disease. | Mitchell KJ | β | 2011 | β |
| The genetics of Tourette disorder. | State MW | β | 2011 | β |
| The neuroproteomics of schizophrenia. | English JA et al. | β | 2011 | β |
| The phenotype of recurrent 10q22q23 deletions and duplications. | van Bon BW et al. | β | 2011 | β |
| The shock of the new: progress in schizophrenia genomics. | Moore S et al. | β | 2011 | β |
| Transcriptional repression of the Ξ±7 nicotinic acetylcholine receptor subunit gene (CHRNA7) by activating protein-2Ξ± (AP-2Ξ±). | Finlay-Schultz J et al. | β | 2011 | β |
| Translational neuroscience of schizophrenia: seeking a meeting of minds between mouse and man. | Kas MJ et al. | β | 2011 | β |
| Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders. | Knickmeyer RC et al. | β | 2011 | β |
| Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia. | Chen J et al. | β | 2011 | β |
| Two patients walk into a clinic...a genomics perspective on the future of schizophrenia. | Corvin AP | β | 2011 | β |
| What have official classifications ever done for psychiatric genomics? Implications for DSM-V schizophrenia. | Atbasoglu EC | β | 2011 | β |
| Where are the missing pieces of the schizophrenia genetics puzzle? | Girard SL 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 |
| Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. | Raychaudhuri S et al. | β | 2010 | β |
| A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. | Shlien A et al. | β | 2010 | β |
| A functional variant provided further evidence for the association of ARVCF with schizophrenia. | Mas S et al. | β | 2010 | β |
| A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia. | Ingason A et al. | β | 2010 | β |
| A new role for endophenotypes in the GWAS era: functional characterization of risk variants. | Hall MH et al. | β | 2010 | β |
| Animal models of neuropsychiatric disorders. | Nestler EJ et al. | β | 2010 | β |
| A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. | Girirajan S et al. | β | 2010 | β |
| A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies. | Poot M et al. | β | 2010 | β |
| Candidate genes and their interactions with other genetic/environmental risk factors in the etiology of schizophrenia. | Prasad KM et al. | β | 2010 | β |
| Case-control genome-wide association study of attention-deficit/hyperactivity disorder. | Neale BM et al. | β | 2010 | β |
| Characterising and predicting haploinsufficiency in the human genome. | Huang N et al. | β | 2010 | β |
| Cognition in mouse models of schizophrenia susceptibility genes. | Arguello PA et al. | β | 2010 | β |
| Common promoter variants of the NDUFV2 gene do not confer susceptibility to schizophrenia in Han Chinese. | Zhang W et al. | β | 2010 | β |
| Common recurrent microduplication syndromes: diagnosis and management in clinical practice. | Berg JS et al. | β | 2010 | β |
| Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. | Saus E et al. | β | 2010 | β |
| Confirmed rare copy number variants implicate novel genes in schizophrenia. | Tam GW et al. | β | 2010 | β |
| Copy number variants--an unexpected risk factor for the idiopathic generalized epilepsies. | Scheffer IE et al. | β | 2010 | β |
| Copy number variation in schizophrenia in the Japanese population. | Ikeda M et al. | β | 2010 | β |
| Copy number variation of the SELENBP1 gene in schizophrenia. | Amar S et al. | β | 2010 | β |
| Copy number variations and cancer susceptibility. | Shlien A et al. | β | 2010 | β |
| Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease. | Huang J et al. | β | 2010 | β |
| Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. | Rosenfeld JA 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 |
| Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. | Moreno-De-Luca D et al. | β | 2010 | β |
| Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. | Ching MS et al. | β | 2010 | β |
| Delineation of 15q13.3 microdeletions. | Masurel-Paulet A et al. | β | 2010 | β |
| De novo rates and selection of large copy number variation. | Itsara A et al. | β | 2010 | β |
| Developmental perspectives on copy number abnormalities of the 22q11.2 region. | Tan TY et al. | β | 2010 | β |
| Development of animal models for schizophrenia. | Arguello PA et al. | β | 2010 | β |
| Discovering tumor suppressor genes through genome-wide copy number analysis. | Rothenberg SM et al. | β | 2010 | β |
| Disorders caused by chromosome abnormalities. | Theisen A et al. | β | 2010 | β |
| Distinct disorders affecting the brain share common genetic origins. | Kooy RF | β | 2010 | β |
| Disturbed synaptic connectivity in schizophrenia: convergence of genetic risk factors during neurodevelopment. | Hayashi-Takagi A et al. | β | 2010 | β |
| Epigenetics of schizophrenia. | Akbarian S | β | 2010 | β |
| Evidence for association of the non-duplicated region of CHRNA7 gene with bipolar disorder but not with Schizophrenia. | AncΓn I et al. | β | 2010 | β |
| Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha. | Carroll LS et al. | β | 2010 | β |
| Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia. | Crespi B et al. | β | 2010 | β |
| Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution. | Carvalho CM et al. | β | 2010 | β |
| Failure to find an association between myosin heavy chain 9, non-muscle (MYH9) and schizophrenia: a three-stage case-control association study. | Amagane H et al. | β | 2010 | β |
| Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. | Alvarado DM et al. | β | 2010 | β |
| Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence. | Torri F et al. | β | 2010 | β |
| Functional impact of global rare copy number variation in autism spectrum disorders. | Pinto D et al. | β | 2010 | β |
| Further investigation of the association between rs7341475 and rs17746501 and schizophrenia. | Ben-David E et al. | β | 2010 | β |
| Gene copy number variation and common human disease. | Fanciulli M et al. | β | 2010 | β |
| Genetic copy number variants in sib pairs both affected with schizophrenia. | Lee CH et al. | β | 2010 | β |
| Genetic differences between five European populations. | Moskvina V et al. | β | 2010 | β |
| Genetic heterogeneity in human disease. | McClellan J et al. | β | 2010 | β |
| Genetics in schizophrenia: where are we and what next? | Tiwari AK et al. | β | 2010 | β |
| Genetics of drug dependence. | Gelernter J et al. | β | 2010 | β |
| Genetics of early onset cognitive impairment. | Ropers HH | β | 2010 | β |
| Genetics of psychiatric disorders methods: molecular approaches. | Avramopoulos D | β | 2010 | β |
| Genome-wide approaches to schizophrenia. | Duan J et al. | β | 2010 | β |
| Genome-wide association of anthropometric traits in African- and African-derived populations. | Kang SJ et al. | β | 2010 | β |
| Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. | Wellcome Trust Case Control Consortium et al. | β | 2010 | β |
| Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. | Mefford HC 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 microarrays in mental retardation: from copy number variation to gene, from research to diagnosis. | Vissers LE et al. | β | 2010 | β |
| GWAS: heritability missing in action? | Clarke AJ et al. | β | 2010 | β |
| Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. | Endris V et al. | β | 2010 | β |
| Hotspots of large rare deletions in the human genome. | Bradley WE et al. | β | 2010 | β |
| Identification of epistatic effects using a protein-protein interaction database. | Sun YV et al. | β | 2010 | β |
| Imaging genetics of schizophrenia. | Meyer-Lindenberg A | β | 2010 | β |
| Imaging genetics of structural brain connectivity and neural integrity markers. | Marenco S et al. | β | 2010 | β |
| Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia. | Sigurdsson T et al. | β | 2010 | β |
| Intermediate or brainless phenotypes for psychiatric research? | Meyer-Lindenberg A | β | 2010 | β |
| Large copy-number variations are enriched in cases with moderate to extreme obesity. | Wang K et al. | β | 2010 | β |
| Loss of Goosecoid-like and DiGeorge syndrome critical region 14 in interpeduncular nucleus results in altered regulation of rapid eye movement sleep. | Funato H et al. | β | 2010 | β |
| Methods: genetic epidemiology. | Benke KS et al. | β | 2010 | β |
| Microdeletions of 3q29 confer high risk for schizophrenia. | Mulle JG et al. | β | 2010 | β |
| MicroRNA dysregulation in psychiatric disease. | Miller BH et al. | β | 2010 | β |
| MicroRNA expression profiling in the prefrontal cortex of individuals affected with schizophrenia and bipolar disorders. | Kim AH et al. | β | 2010 | β |
| MicroRNAs in psychiatric and neurodevelopmental disorders. | Xu B et al. | β | 2010 | β |
| Mutant mouse models: phenotypic relationships to domains of psychopathology and pathobiology in schizophrenia. | O'Tuathaigh CM et al. | β | 2010 | β |
| Mutation screening of the DTNBP1 exonic sequence in 669 schizophrenics and 710 controls using high-resolution melting analysis. | Dwyer S et al. | β | 2010 | β |
| Narrowing the boundaries of the genetic architecture of schizophrenia. | Wray NR et al. | β | 2010 | β |
| Nature and nurture in neuropsychiatric genetics: where do we stand? | Dick DM et al. | β | 2010 | β |
| Neuropsychiatric connections of ADHD genes. | Burbach JP | β | 2010 | β |
| New copy number variations in schizophrenia. | Magri C et al. | β | 2010 | β |
| New findings in the genetics of major psychoses. | NΓΆthen MM et al. | β | 2010 | β |
| New Genetic Findings in Schizophrenia: Is there Still Room for the Dopamine Hypothesis of Schizophrenia? | Nieratschker V et al. | β | 2010 | β |
| No evidence that rare coding variants in ZNF804A confer risk of schizophrenia. | Dwyer S et al. | β | 2010 | β |
| Penetrance for copy number variants associated with schizophrenia. | Vassos E et al. | β | 2010 | β |
| Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. | Ricard G et al. | β | 2010 | β |
| Phenotypic variability and genetic susceptibility to genomic disorders. | Girirajan S et al. | β | 2010 | β |
| Pilot study on schizophrenia in Sardinia. | Ott J et al. | β | 2010 | β |
| Population structure and genome-wide patterns of variation in Ireland and Britain. | O'Dushlaine CT et al. | β | 2010 | β |
| Positron emission tomography in schizophrenia: a new perspective. | Patel NH et al. | β | 2010 | β |
| Predictive and diagnostic genetic testing in psychiatry. | Mitchell PB 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 |
| Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia. | Grozeva D et al. | β | 2010 | β |
| Recent advances in the genetics of rheumatoid arthritis. | Raychaudhuri S | β | 2010 | β |
| Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. | de Kovel CG et al. | β | 2010 | β |
| Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. | Shinawi M et al. | β | 2010 | β |
| Redefining disease. | Bell J | β | 2010 | β |
| Redox dysregulation and oxidative stress in schizophrenia: nutrigenetics as a challenge in psychiatric disease prevention. | Do KQ et al. | β | 2010 | β |
| Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders. | Zhou X et al. | β | 2010 | β |
| Replicated genetic evidence supports a role for HOMER2 in schizophrenia. | Gilks WP et al. | β | 2010 | β |
| Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior. | Carmona-Mora P et al. | β | 2010 | β |
| REVIEW: Genome-wide findings in schizophrenia and the role of gene-environment interplay. | Van Winkel R et al. | β | 2010 | β |
| Schizophrenia is associated with an increase in cortical microRNA biogenesis. | Beveridge NJ et al. | β | 2010 | β |
| Somatic gene mutation and human disease other than cancer: an update. | Erickson RP | β | 2010 | β |
| Strong synaptic transmission impact by copy number variations in schizophrenia. | Glessner JT et al. | β | 2010 | β |
| Structural variation in the human genome and its role in disease. | Stankiewicz P et al. | β | 2010 | β |
| Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? | Szafranski P et al. | β | 2010 | β |
| Studies on the hippocampal formation: From basic development to clinical applications: Studies on schizophrenia. | Freedman R et al. | β | 2010 | β |
| SZGR: a comprehensive schizophrenia gene resource. | Jia P et al. | β | 2010 | β |
| Targeted interrogation of copy number variation using SCIMMkit. | Zerr T et al. | β | 2010 | β |
| Testing the antagonistic pleiotropy model of schizophrenia susceptibility by analysis of DAOA, PPP1R1B, and APOL1 genes. | Carrera N et al. | β | 2010 | β |
| The clinical context of copy number variation in the human genome. | Lee C et al. | β | 2010 | β |
| The diagnosis of mental disorders: the problem of reification. | Hyman SE | 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 effect of algorithms on copy number variant detection. | Tsuang DW et al. | β | 2010 | β |
| The Genetic Basis of Thought Disorder and Language and Communication Disturbances in Schizophrenia. | Levy DL et al. | β | 2010 | β |
| The genetics of Alzheimer disease: back to the future. | Bertram L et al. | β | 2010 | β |
| [The genetics of schizophrenia: back to the clinic?]. | Krebs MO 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 impact of human copy number variation on a new era of genetic testing. | Choy KW et al. | β | 2010 | β |
| The Kraepelinian dichotomy - going, going... but still not gone. | Craddock N et al. | β | 2010 | β |
| The molecular pathology of schizophrenia--focus on histone and DNA modifications. | Akbarian S | β | 2010 | β |
| The neurobiology of schizophrenia: new leads and avenues for treatment. | Bray NJ et al. | β | 2010 | β |
| The psychosis susceptibility gene ZNF804A: associations, functions, and phenotypes. | Donohoe G et al. | β | 2010 | β |
| The pursuit of genome-wide association studies: where are we now? | Ku CS et al. | β | 2010 | β |
| The role of copy number variation in schizophrenia. | Kirov G | β | 2010 | β |
| The role of genetics in the etiology of schizophrenia. | Gejman PV et al. | β | 2010 | β |
| Tourette syndrome is associated with recurrent exonic copy number variants. | Sundaram SK et al. | β | 2010 | β |
| Translating the epidemiology of psychosis into public mental health: evidence, challenges and future prospects. | Kirkbride J et al. | β | 2010 | β |
| Understanding what causes schizophrenia: a developmental perspective. | Gilmore JH | β | 2010 | β |
| What have the genomics ever done for the psychoses? | Gill M et al. | β | 2010 | β |
| Whole genome association studies in complex diseases: where do we stand? | Need AC et al. | β | 2010 | β |
| A 2-base pair deletion polymorphism in the partial duplication of the alpha7 nicotinic acetylcholine gene (CHRFAM7A) on chromosome 15q14 is associated with schizophrenia. | Sinkus ML et al. | β | 2009 | β |
| A common copy number variation on chromosome 6 association with the gene expression level of endothelin 1 in transformed B lymphocytes from three racial groups. | Sun YV et al. | β | 2009 | β |
| A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. | Knight HM et al. | β | 2009 | β |
| Advances in the genetics of schizophrenia: will high-risk copy number variants be useful in clinical genetics or diagnostics? | Collier DA et al. | β | 2009 | β |
| A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. | Need AC et al. | β | 2009 | β |
| An important risk factor in idiopathic generalized epilepsies. | Stein RA | β | 2009 | β |
| A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. | Shinawi M et al. | β | 2009 | β |
| Autism genetics: emerging data from genome-wide copy-number and single nucleotide polymorphism scans. | Weiss LA | β | 2009 | β |
| BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1. | Brunet A et al. | β | 2009 | β |
| Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. | International Schizophrenia Consortium et al. | β | 2009 | β |
| Common variants conferring risk of schizophrenia. | Stefansson H et al. | β | 2009 | β |
| Common variants in polygenic schizophrenia. | Glessner JT et al. | β | 2009 | β |
| Comparing CNV detection methods for SNP arrays. | Winchester L et al. | β | 2009 | β |
| Copy-number variants in neurodevelopmental disorders: promises and challenges. | Merikangas AK et al. | β | 2009 | β |
| De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. | Greenway SC et al. | β | 2009 | β |
| [Diabetes and second-generation (atypical) antipsychotics]. | Chabroux S et al. | β | 2009 | β |
| Discovering gene-environment interactions in the post-genomic era. | Naidoo N et al. | β | 2009 | β |
| DUF1220 domains, cognitive disease, and human brain evolution. | Dumas L et al. | β | 2009 | β |
| Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans. | Xu B et al. | β | 2009 | β |
| Evolving role of MeCP2 in Rett syndrome and autism. | LaSalle JM et al. | β | 2009 | β |
| Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery. | McCarthy MI | β | 2009 | β |
| Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. | Dibbens LM et al. | β | 2009 | β |
| Finding common susceptibility variants for complex disease: past, present and future. | Panoutsopoulou K et al. | β | 2009 | β |
| Finding the missing heritability of complex diseases. | Manolio TA et al. | β | 2009 | β |
| From age correction to genome-wide association. | Cohen-Woods S et al. | β | 2009 | β |
| Genetic overlap between autism, schizophrenia and bipolar disorder. | Carroll LS et al. | β | 2009 | β |
| Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era. | Mefford HC | β | 2009 | β |
| Group II metabotropic glutamate receptors and schizophrenia. | Moreno JL et al. | β | 2009 | β |
| High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. | Shaikh TH et al. | β | 2009 | β |
| Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. | Raychaudhuri S et al. | β | 2009 | β |
| Interpreting humanity's genes. | Shaw AC et al. | β | 2009 | β |
| Mapping duplicated sequences. | Chiang DY et al. | β | 2009 | β |
| Microduplications of 16p11.2 are associated with schizophrenia. | McCarthy SE et al. | β | 2009 | β |
| Neurexin 1 (NRXN1) deletions in schizophrenia. | Kirov G et al. | β | 2009 | β |
| Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint. | Doi N et al. | β | 2009 | β |
| Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. | Sebat J et al. | β | 2009 | β |
| Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. | Guilmatre A et al. | β | 2009 | β |
| Schizophrenia. | van Os J et al. | β | 2009 | β |
| Schizophrenia: the "BLOC" may be in the endosomes. | Ryder PV et al. | 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 |
| Sensitive and accurate detection of copy number variants using read depth of coverage. | Yoon S et al. | β | 2009 | β |
| The genetics of quantitative traits: challenges and prospects. | Mackay TF et al. | β | 2009 | β |
| The genetics of Tourette syndrome: a review. | O'Rourke JA et al. | β | 2009 | β |
| The role of DNA copy number variation in schizophrenia. | Tam GW et al. | β | 2009 | β |