Large recurrent microdeletions associated with schizophrenia

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Large recurrent microdeletions associated with schizophrenia is …
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scholarly articleQ13442814

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P6179Dimensions Publication ID1038869319
P356DOI10.1038/NATURE07229
P3181OpenCitations bibliographic resource ID379835
P932PMC publication ID2687075
P698PubMed publication ID18668039
P5875ResearchGate publication ID23138435

P50authorDavid B. GoldsteinQ15989762
Marcella RietschelQ20742720
Evangelos VassosQ21094949
Hans-Jürgen MöllerQ1577771
Leena Peltonen-PalotieQ2399315
Kári StefánssonQ6453246
Robin MurrayQ7352679
David CollierQ21094975
Sven CichonQ28050103
Dan RujescuQ28050107
Augustine KongQ28050134
Hreinn StefanssonQ28050141
Unnur ÞorsteinsdóttirQ28050158
Thomas WergeQ29122092
Jes OlesenQ29643374
Andrés IngasonQ114270588
Olli P H PietiläinenQ114270893
Ragnheidur FossdalQ114366499
Timi ToulopoulouQ114366501
Kevin V ShiannaQ114366502
Arnaldur GylfasonQ114366504
Caroline CrombieQ114366505
Jacobine E Buizer-VoskampQ114366506
Asgeir BjornssonQ114515798
Dongliang GeQ115248929
Jouko LönnqvistQ29840812
Anna C. NeedQ30347446
Daníel F. GuðbjartssonQ30348313
Barbara FrankeQ30388929
Aslaug JonasdottirQ30434719
Ole A. AndreassenQ31229142
Srdjan DjurovicQ34568432
Markus M NöthenQ37634364
Thomas F. HansenQ37651587
Richard BruggemanQ37652571
Adalbjorg JonasdottirQ38154259
Jaana SuvisaariQ39998334
Lambertus KiemeneyQ40024880
Henrik UllumQ40974711
Clyde FrancksQ42305970
Muriel WalsheQ42305977
Engilbert SigurdssonQ43301079
Thordur SigmundssonQ43302977
Paul M. MatthewsQ43864655
Alexander GeorgiQ46482741
Marta Di FortiQ46888593
Ingrid MelleQ47083123
Tiina PaunioQ47405528
Thorgeir E. ThorgeirssonQ47502252
Bjarni V. HalldórssonQ47502536
Elvira BramonQ52013079
Roel OphoffQ58911354
Gillian M FraserQ64683218
Jeffrey GulcherQ66823431
Nelson A. FreimerQ67465306
Ina GieglingQ79440178
Thomas W MühleisenQ87871468
Sarah TosatoQ87889193
Asgeir SigurdssonQ88734369
Stacy SteinbergQ89583861
David St ClairQ89918892
Pierandrea MugliaQ89919709
Brynja MagnusdottirQ90090042
Mirella RuggeriQ91764571
Annette M HartmannQ92100086
Cătălina-Andreea VasilescuQ108704680
P2093author name stringTao Li
Chiara Sabatti
Hannes Petursson
Nicholas Walker
Thorarinn Blondal
August G Wang
Klaus D Jakobsen
Magnus Haraldsson
Annamarie Tuulio-Henriksson
Sigurborg Mattiasdottir
P2860cites workGenome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in womenQ21145218
Rare chromosomal deletions and duplications increase risk of schizophreniaQ22337245
Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23Q24536215
Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studiesQ24648392
Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22Q28143069
Disruption of two novel genes by a translocation co-segregating with schizophreniaQ28144559
A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disordersQ28262802
Association between microdeletion and microduplication at 16p11.2 and autismQ28264205
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophreniaQ28274064
Performance deficit of alpha7 nicotinic receptor knockout mice in a delayed matching-to-place task suggests a mild impairment of working/episodic-like memoryQ28588757
Presynaptic type III neuregulin1-ErbB signaling targets {alpha}7 nicotinic acetylcholine receptors to axonsQ28593522
The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriersQ30610480
Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal casesQ30830662
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping dataQ31104515
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.Q33992163
Diagnostic genome profiling in mental retardationQ34114527
Schizophrenia and velo-cardio-facial syndrome.Q34530657
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genomeQ34556894
Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locusQ35956504
Fertility and sibship size in a psychiatric patient population. A comparison with national census dataQ36555528
Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findingsQ36772023
The Prader-Willi phenotype of fragile X syndromeQ46068380
The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.Q50310325
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment.Q51907423
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.Q51909004
Neurobehavioral characteristics of CGG amplification status in fragile X females.Q52021175
Linkage of schizophrenia with chromosome 1q loci in Taiwanese families.Q52550480
A two-stage linkage analysis of Chinese schizophrenia pedigrees in 10 target chromosomesQ57590010
Novel approach to quantitative polymerase chain reaction using real-time detection: application to the detection of gene amplification in breast cancerQ77531704
A high-resolution survey of deletion polymorphism in the human genomeQ94465012
P433issue7210
P407language of work or nameEnglishQ1860
P921main subjectschizophreniaQ41112
P304page(s)232-6
P577publication date2008-09-11
P1433published inNatureQ180445
P1476titleLarge recurrent microdeletions associated with schizophrenia
P478volume455

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Q36632924DNA methylation in schizophrenia: progress and challenges of epigenetic studies
Q35999462DNA sequencing: clinical applications of new DNA sequencing technologies.
Q22337096DUF1220 domains, cognitive disease, and human brain evolution
Q33398247De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
Q37353964De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
Q36632942De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention
Q33650848De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
Q24621518De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
Q34239141De novo rates and selection of large copy number variation
Q37361140Decanalization and the origin of complex disease
Q42130079Definition and refinement of the 7q36.3 duplication region associated with schizophrenia.
Q28481601Deleterious GRM1 mutations in schizophrenia
Q33740241Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
Q52307028Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.
Q37703015Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders
Q83680991Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome
Q30885441Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach
Q37663717Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample.
Q58050566Detection of Genomic Imbalances by Array-Based Comparative Genomic Hybridization in Bulgarian Patients with Autism Spectrum Disorders
Q34132810Detection of common copy number variation with application to population clustering from next generation sequencing data
Q34563191Detection of copy number variants reveals association of cilia genes with neural tube defects
Q34624454Detection of copy number variation by SNP-allelotyping.
Q34356036Detection of disease-associated deletions in case-control studies using SNP genotypes with application to rheumatoid arthritis
Q34928818Detection of sharing by descent, long-range phasing and haplotype imputation
Q33833931Determination of beta-defensin genomic copy number in different populations: A comparison of three methods
Q37371729Development and application of genotyping technologies
Q30477782Development of animal models for schizophrenia
Q33581309Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Q38051773Developmental psychopathology: the role of structural variation in the genome
Q37832739Developments in schizophrenia genetics: from linkage to microchips, deletions and duplications
Q39547767Different transcription activity of HERV-K LTR-containing and LTR-lacking genes of the KIAA1245/NBPF gene subfamily
Q34162964Differential effects of common variants in SCN2A on general cognitive ability, brain physiology, and messenger RNA expression in schizophrenia cases and control individuals
Q35390572Diminished cerebral inhibition in neonates associated with risk factors for schizophrenia: parental psychosis, maternal depression, and nicotine use.
Q24618002Direct measure of the de novo mutation rate in autism and schizophrenia cohorts
Q34152841Discovering tumor suppressor genes through genome-wide copy number analysis
Q36358463Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth
Q39108424Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes.
Q36902087Disease signatures for schizophrenia and bipolar disorder using patient-derived induced pluripotent stem cells.
Q37956490Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia
Q97522036Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.
Q34775497Disorders caused by chromosome abnormalities
Q24322974Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling
Q30448529Disruption of Arp2/3 results in asymmetric structural plasticity of dendritic spines and progressive synaptic and behavioral abnormalities
Q24647095Disruption of the neurexin 1 gene is associated with schizophrenia
Q43154189Disruptive insights in psychiatry: transforming a clinical discipline
Q41768998Distinct disorders affecting the brain share common genetic origins
Q35538457Distinctive transcriptome alterations of prefrontal pyramidal neurons in schizophrenia and schizoaffective disorder.
Q37174458Distribution of disease-associated copy number variants across distinct disorders of cognitive development
Q33590026Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome
Q36945440Diverse types of genetic variation converge on functional gene networks involved in schizophrenia
Q24600195Diversity of human copy number variation and multicopy genes
Q34249436Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?
Q33729433Dopamine and psychosis: theory, pathomechanisms and intermediate phenotypes
Q37316924Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort.
Q42321452Dosage sensitivity is a major determinant of human copy number variant pathogenicity
Q35345720Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
Q41587750Dosage-sensitive genes in evolution and disease
Q88692014Double hits in schizophrenia
Q34964947Down syndrome--recent progress and future prospects
Q38177357Drug discovery based on genetic and metabolic findings in schizophrenia
Q28084198Drug models of schizophrenia
Q37499225Duplication hotspots, rare genomic disorders, and common disease
Q37362339Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets.
Q35956878Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia
Q36565893Effects of Self-Rated Health and Self-Rated Economic Situation on Depressed Mood Via Life Satisfaction Among Older Adults in Costa Rica
Q38440780Electrophysiological endophenotypes in rodent models of schizophrenia and psychosis
Q37377409Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans
Q37964747Emerging evidence for the role of genomic instability in male factor infertility
Q33989579Endometriosis is associated with rare copy number variants
Q93067077Endophenotypes in Schizophrenia: Digging Deeper to Identify Genetic Mechanisms
Q36994725Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR.
Q34482708Epigenetic signaling in schizophrenia
Q37563075Epigenetics, genomic mutations and cognitive function
Q92881212Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
Q33881325Ethical challenges in genotype-driven research recruitment
Q36928804Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations
Q36676842Evaluating rare variants in complex disorders using next-generation sequencing
Q51370010Evaluating rare variants under two-stage design.
Q30428422Evaluating the role of the alpha-7 nicotinic acetylcholine receptor in the pathophysiology and treatment of schizophrenia
Q53495664Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha.
Q34192331Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses.
Q22248085Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia
Q33844453Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution
Q37754018Evolving role of MeCP2 in Rett syndrome and autism
Q42623377Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders
Q37480047Executive function, neural circuitry, and genetic mechanisms in schizophrenia
Q24620622Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy
Q36152879Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
Q34566077Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes
Q29614573Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Q30405748Exome sequencing supports a de novo mutational paradigm for schizophrenia.
Q28263929Exploring the role of copy number variants in human adaptation
Q37547308Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery
Q57178492Expression Analysis of CYFIP1 and CAMKK2 Genes in the Blood of Epileptic and Schizophrenic Patients
Q36170457Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes
Q37058638Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia.
Q97424771FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS)
Q36301683Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Q36686684Familial cosegregation of rare genetic variants with disease in complex disorders
Q35702888Family-Based Benchmarking of Copy Number Variation Detection Software
Q37538006Finding common susceptibility variants for complex disease: past, present and future
Q22122198Finding the missing heritability of complex diseases
Q64079960Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots
Q26830603Following the genes: a framework for animal modeling of psychiatric disorders
Q37217009Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia
Q35094193Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus
Q38296769From Prader-Willi syndrome to psychosis: translating parent-of-origin effects into schizophrenia research
Q101390567Full function of exon junction complex factor, Rbm8a, is critical for interneuron development
Q92535236Functional Genomics of Epilepsy and Associated Neurodevelopmental Disorders Using Simple Animal Models: From Genes, Molecules to Brain Networks
Q34639776Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models
Q63869207Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder
Q36091184Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
Q30000781Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy
Q30915634G-CNV: A GPU-Based Tool for Preparing Data to Detect CNVs with Read-Depth Methods.
Q53428761GABAergic inhibitory neurons as therapeutic targets for cognitive impairment in schizophrenia.
Q35046123GWAS, cytomegalovirus infection, and schizophrenia.
Q42352511GWAS: heritability missing in action?
Q36906575Gender differences in CNV burden do not confound schizophrenia CNV associations.
Q50345846Gene chips unmask cryptic diseases.
Q27010353Gene expression profiling of the brain: pondering facts and fiction
Q56505464Gene surveys identify schizophrenia triggers
Q28067507Gene × Environment Interactions in Schizophrenia: Evidence from Genetic Mouse Models
Q39682696Gene-set analysis based on the pharmacological profiles of drugs to identify repurposing opportunities in schizophrenia.
Q28303293Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk
Q41986489Genes and Small RNA Transcripts Exhibit Dosage-Dependent Expression Pattern in Maize Copy-Number Alterations.
Q37761136Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
Q33581609Genetic Markers of Human Evolution Are Enriched in Schizophrenia
Q38886738Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases
Q34162345Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
Q42605473Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions
Q36825572Genetic architecture of quantitative traits in mice, flies, and humans
Q38112901Genetic architecture of reciprocal CNVs
Q33949729Genetic architectures of psychiatric disorders: the emerging picture and its implications
Q47224735Genetic basis of human congenital anomalies of the kidney and urinary tract
Q37953793Genetic contributions to behavioural diversity at the gene-environment interface
Q33745742Genetic copy number variants in sib pairs both affected with schizophrenia.
Q97905480Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study
Q34539953Genetic copy number variation and general cognitive ability
Q54765119Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.
Q27027836Genetic determinants of depression: recent findings and future directions
Q92356813Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders
Q42179071Genetic overlap between autism, schizophrenia and bipolar disorder
Q51054097Genetic overlap between episodic memory deficits and schizophrenia: results from the Maudsley Twin Study.
Q34273450Genetic polymorphisms in CYP2E1: association with schizophrenia susceptibility and risperidone response in the Chinese Han population.
Q37699386Genetic relationships between schizophrenia, bipolar disorder, and schizoaffective disorder
Q33669117Genetic research into bipolar disorder: the need for a research framework that integrates sophisticated molecular biology and clinically informed phenotype characterization
Q38344604Genetic studies of schizophrenia: an update
Q52339753Genetic susceptibility to neuroblastoma: current knowledge and future directions.
Q34603780Genetic underpinnings of white matter 'connectivity': heritability, risk, and heterogeneity in schizophrenia
Q56888533Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes
Q26781213Genetics and genomics of psychiatric disease
Q35237268Genetics in schizophrenia: where are we and what next?
Q38731983Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play.
Q39456531Genetics of Schizophrenia: Ready to Translate?
Q84797519Genetics of autism spectrum disorders
Q34974394Genetics of autism spectrum disorders.
Q35104978Genetics of childhood obesity
Q41451951Genetics of congenital heart disease
Q35237159Genetics of drug dependence
Q33744854Genetics of psychiatric disorders methods: molecular approaches
Q22252693Genetics of psychosis; insights from views across the genome
Q33729022Genetics of schizophrenia from a clinicial perspective.
Q38767128Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics
Q37953135Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research
Q35042553Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia
Q59355257Genome-Wide Association Study in Vestibular Neuritis: Involvement of the Host Factor for HSV-1 Replication
Q46700790Genome-Wide Mapping of Structural Variations Reveals a Copy Number Variant That Determines Reproductive Morphology in Cucumber.
Q35758604Genome-Wide Study of Structural Variants in Bovine Holstein, Montbéliarde and Normande Dairy Breeds.
Q63433066Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts
Q36695755Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.
Q37414540Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder
Q35109411Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients
Q34138007Genome-wide approaches to schizophrenia
Q92454288Genome-wide association analysis in West Highland White Terriers with atopic dermatitis
Q37611740Genome-wide association analysis of copy number variation in recurrent depressive disorder.
Q24645076Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
Q40393210Genome-wide association studies are coming for human infectious diseases
Q37175234Genome-wide association studies in ADHD.
Q37422991Genome-wide association studies--a summary for the clinical gastroenterologist
Q35001476Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
Q36486414Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia
Q24628710Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
Q30303052Genome-wide association study of copy number variations (CNVs) with opioid dependence
Q29417051Genome-wide association study of multiplex schizophrenia pedigrees.
Q57323019Genome-wide association study of recurrent major depressive disorder in two European case–control cohorts
Q33932959Genome-wide association study of schizophrenia in Japanese population
Q24630434Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus
Q40215640Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness
Q37226294Genome-wide association uncovers shared genetic effects among personality traits and mood states
Q35844617Genome-wide burden of deleterious coding variants increased in schizophrenia
Q30427847Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music
Q33587483Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies
Q35083552Genome-wide copy-number variation analysis identifies common genetic variants at 20p13 associated with aggressiveness of prostate cancer
Q37896620Genome-wide investigation of rare structural variants identifies VIPR2 as a new candidate gene for schizophrenia
Q30439012Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia
Q35977347Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci.
Q33906177Genome-wide scan of copy number variation in late-onset Alzheimer's disease
Q29417060Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci
Q46504843Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder
Q34606096Genomewide association studies: history, rationale, and prospects for psychiatric disorders
Q28752178Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms
Q35201073Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder
Q35109761Genomic copy number variation in disorders of cognitive development
Q37522738Genomic copy number variation, human health, and disease
Q37198442Genomic disorders ten years on.
Q28302565Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange
Q33772616Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice.
Q33408823Genomic landscape of a three-generation pedigree segregating affective disorder
Q33354553Genomic structural variation in psychiatric disorders
Q47555582Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?
Q37780792Genomics and pharmacogenomics of schizophrenia
Q33937230Genomics, intellectual disability, and autism
Q37654549Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.
Q93043311Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma
Q38479290Global patterns of apparent copy number variation in birds revealed by cross-species comparative genomic hybridization
Q54441396HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.
Q27325468Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice
Q35597451Haplotype phasing and inheritance of copy number variants in nuclear families
Q37926253Heredity in epilepsy: neurodevelopment, comorbidity, and the neurological trait
Q92709159Heterozygous rare genetic variants in non-syndromic early-onset obesity
Q37578876High frequencies of de novo CNVs in bipolar disorder and schizophrenia
Q34084054High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy
Q37505079High rate of disease-related copy number variations in childhood onset schizophrenia.
Q33480832High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Q92419063Higher Gestational Choline Levels in Maternal Infection Are Protective for Infant Brain Development
Q47162671Hippocampal Regulation of Postsynaptic Density Homer1 by Associative Learning.
Q43938609Hippocampal α7 nicotinic acetylcholine receptor levels in patients with schizophrenia, bipolar disorder, or major depressive disorder
Q38943761Human adaptation and evolution by segmental duplication
Q34137857Human behavioral informatics in genetic studies of neuropsychiatric disease: multivariate profile-based analysis
Q50309527Human copy number variation and complex genetic disease.
Q37936473Human endogenous retrovirus type W (HERV-W) in schizophrenia: a new avenue of research at the gene-environment interface
Q29614580Human genetic variation and its contribution to complex traits
Q35635451Hypoxia drives transient site-specific copy gain and drug-resistant gene expression.
Q74433521Icelandic biotech feels the pinch
Q36301065Identification and functional characterization of rare SHANK2 variants in schizophrenia
Q34267003Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders.
Q33923615Identification of candidate single-nucleotide polymorphisms in NRXN1 related to antipsychotic treatment response in patients with schizophrenia
Q37386040Identification of functional marker proteins in the mammalian growth cone.
Q41692239Identification of novel candidate disease genes from de novo exonic copy number variants.
Q50306233Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
Q33836160Identification of structural variation in mouse genomes
Q35616475Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions
Q33474863Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions
Q30451278Imaging and genetics of language and cognition in pediatric epilepsy
Q37841455Imaging genetics of schizophrenia.
Q34559752Impact of constitutional copy number variants on biological pathway evolution
Q89339812Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing
Q33829829Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia
Q37940158Implications of gene copy-number variation in health and diseases.
Q36114041Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells
Q37397396Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.
Q36580896Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation
Q46401111In silico identification of new genetic variations as potential risk factors for Alzheimer's disease in a microarray-oriented simulation
Q35537136Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR
Q30639738Increased LIS1 expression affects human and mouse brain development
Q59667688Increased exonic de novo mutation rate in individuals with schizophrenia
Q30849515Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data
Q50302965Increased paternal age and the influence on burden of genomic copy number variation in the general population.
Q35861470Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia
Q61771019Individuals with 22q11.2 deletion syndrome show intact prediction but reduced adaptation in responses to repeated sounds: Evidence from Bayesian mapping
Q34923975Induced pluripotent stem cells: a new tool to confront the challenge of neuropsychiatric disorders
Q34182841Inferring haplotypes of copy number variations from high-throughput data with uncertainty
Q30540543Inheritance model introduces differential bias in CNV calls between parents and offspring
Q39785277Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.
Q22122172Initial impact of the sequencing of the human genome
Q50803888Integrated genetic and genomic approach in the SingaporeTranslational and Clinical Research in Psychosis Study: an overview.
Q91314962Interactive effects between hemizygous 15q13.3 microdeletion and peripubertal stress on adult behavioral functions
Q41921519Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
Q50312865Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Q35132379Investigation of modifier genes within copy number variations in Rett syndrome
Q34429146Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia
Q37140379Involvement of PTPN5, the gene encoding the striatal-enriched protein tyrosine phosphatase, in schizophrenia and cognition
Q30457731Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing
Q37808466Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research
Q35742294Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder
Q36004324KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Q34959002Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
Q52606417KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.
Q46544707LINE-1 Retrotransposons in Healthy and Diseased Human Brain
Q43063737Lack of association between MAGEL2 and schizophrenia and mood disorders in the Japanese population
Q43852892Lack of association of the 5-HT(3A) receptor with schizophrenia
Q54989953Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS.
Q24623878Large, rare chromosomal deletions associated with severe early-onset obesity
Q58462542Letter to the Editor: Strong evidence for multiple psychosis susceptibility genes – a rejoinder to Crow
Q37084586Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder
Q61829441Lifetime reproductive output over two generations in patients with psychosis and their unaffected siblings: the Uppsala 1915–1929 Birth Cohort Multigenerational Study
Q37290557Linkage analysis of schizophrenia in African-American families
Q37166689Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes
Q60044520Local and global chromatin interactions are altered by large genomic deletions associated with human brain development
Q40966399Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations
Q96172138Long-read human genome sequencing and its applications
Q34700227Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Q24615307Mapping copy number variation by population-scale genome sequencing
Q84866745Mapping duplicated sequences
Q33425649Markov Models for inferring copy number variations from genotype data on Illumina platforms
Q36193455Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness
Q38272133Medical conditions in autism spectrum disorders
Q34286145Meta-analysis of 15 genome-wide linkage scans of smoking behavior
Q37274086Meta-analysis of 32 genome-wide linkage studies of schizophrenia.
Q37992401MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction
Q35216295MicroRNA expression profiling in the prefrontal cortex of individuals affected with schizophrenia and bipolar disorders
Q34394249MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review
Q37730250MicroRNAs in psychiatric and neurodevelopmental disorders
Q26744819MicroRNAs: Key Regulators in the Central Nervous System and Their Implication in Neurological Diseases
Q33736973Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts
Q37419604Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
Q50312488Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Q36072998Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
Q34050937Microdeletions of 3q29 confer high risk for schizophrenia
Q24634151Microduplications of 16p11.2 are associated with schizophrenia
Q38205899Mind the gap: why many geneticists and psychological scientists have discrepant views about gene-environment interaction (G×E) research
Q30479819Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain
Q34540416Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity
Q28081179Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development
Q92338797Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations
Q37055287Modeling cognitive endophenotypes of schizophrenia in mice
Q24633007Modelling schizophrenia using human induced pluripotent stem cells
Q50307016Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Q47140966Modulating Neuroinflammation to Treat Neuropsychiatric Disorders
Q37742118Molecular diagnostics: between chips and customized medicine
Q46168265Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study
Q27691100Molecular mechanisms in 22q11 deletion syndrome
Q42649179Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility
Q47609682Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder.
Q35015379Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes
Q29013643Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Q37427373Multiple genes in the 15q13-q14 chromosomal region are associated with schizophrenia
Q30459624Muscarinic and nicotinic acetylcholine receptor agonists and allosteric modulators for the treatment of schizophrenia
Q44196200Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia
Q37138653NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits
Q51825997NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype.
Q36718684NMDA hypofunction as a convergence point for progression and symptoms of schizophrenia
Q35237190Nature and nurture in neuropsychiatric genetics: where do we stand?
Q34979398Neural substrates of pleiotropic action of genetic variation in COMT: a meta-analysis
Q37309811Neuregulin 1-erbB4 pathway in schizophrenia: From genes to an interactome
Q45941265Neuregulin-1 genotypes and eye movements in schizophrenia.
Q102063568Neurexins in autism and schizophrenia-a review of patient mutations, mouse models and potential future directions
Q37832780Neurobiology and phenotypic expression in early onset schizophrenia
Q37834929Neurobiology of attention deficit/hyperactivity disorder
Q35659746Neurocognition in early-onset schizophrenia and schizoaffective disorders
Q30442237Neurodevelopment in schizophrenia: the role of the wnt pathways
Q34675943Neurodevelopment, GABA system dysfunction, and schizophrenia
Q36417310Neurodevelopmental model of schizophrenia: update 2012
Q38225161Neuromodulation by acetylcholine: examples from schizophrenia and depression
Q34956275Neuronal chromatin dynamics of imprinting in development and disease
Q37344755Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation
Q49723099New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Q33725544New copy number variations in schizophrenia.
Q38614141New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings
Q37374232New findings from genetic association studies of schizophrenia
Q35237172New findings in the genetics of major psychoses
Q30468290New frontiers in animal research of psychiatric illness
Q38189979Nicotinic acetylcholine receptors in human genetic disease
Q36345854No age effect in the prevalence and clinical significance of ultra-high risk symptoms and criteria for psychosis in 22q11 deletion syndrome: Confirmation of the genetically driven risk for psychosis?
Q46116562No association between general cognitive ability and rare copy number variation
Q50303685No evidence that common genetic risk variation is shared between schizophrenia and autism.
Q45928430No evidence that rare coding variants in ZNF804A confer risk of schizophrenia.
Q39965238No evidence that runs of homozygosity are associated with schizophrenia in an Irish genome-wide association dataset
Q34505634Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis
Q38241786Novel treatment strategies for schizophrenia from improved understanding of genetic risk
Q50209842OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Q37474789Ohnologs are overrepresented in pathogenic copy number mutations
Q34953729Olfactory copy number association with age at onset of Alzheimer disease
Q37894742Oligonucleotide microarrays in constitutional genetic diagnosis
Q34085510On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium
Q38215322One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.
Q55115610Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior.
Q30630496Optogenetics in psychiatric animal models
Q36899772Ordered subset analysis of copy number variation association with age at onset of Alzheimer's disease
Q37114924Ordered subset linkage analysis based on admixture proportion identifies new linkage evidence for alcohol dependence in African-Americans
Q30479118Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice
Q91554696Overdispersed gene expression in schizophrenia
Q97531486Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders
Q38905317Overview of the Genetics of Alcohol Use Disorder
Q33854995Oxidative stress-driven parvalbumin interneuron impairment as a common mechanism in models of schizophrenia
Q34248252PAIR: polymorphic Alu insertion recognition
Q92006503Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution
Q34572542Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability
Q36554182Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice
Q37332708Patient participation in fundamental psychiatric genomics research: a Dutch case study
Q50303296Penetrance for copy number variants associated with schizophrenia.
Q26852636Perioperative genomics
Q30884325Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint
Q29614582Personal genomes: The case of the missing heritability
Q37768070Pharmacogenetic testing and therapeutic drug monitoring are complementary tools for optimal individualization of drug therapy.
Q53404095Phenotype evaluation and genomewide linkage study of clinical variables in schizophrenia.
Q35030847Phenotype mining in CNV carriers from a population cohort
Q36498543Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder
Q27322785Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models
Q36387744Phenotypic heterogeneity of genomic disorders and rare copy-number variants
Q34323221Phenotypic impact of genomic structural variation: insights from and for human disease
Q37784332Phenotypic variability and genetic susceptibility to genomic disorders
Q57419525Phenotypic variations on the theme of CNVs
Q56806254Pilot Study on Schizophrenia in Sardinia
Q37877244Planning a genome-wide association study: points to consider
Q37156109Population analysis of large copy number variants and hotspots of human genetic disease
Q30844540Population clustering based on copy number variations detected from next generation sequencing data
Q33698577Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia
Q39170724Positive Traits in the Bipolar Spectrum: The Space between Madness and Genius
Q33819207Potential Value of Genomic Copy Number Variations in Schizophrenia
Q26827502Preclinical models of antipsychotic drug action
Q40358052Predictors of current functioning and functional decline in schizophrenia
Q27022263Prenatal choline and the development of schizophrenia
Q37013377Prenatal stress induces schizophrenia-like alterations of serotonin 2A and metabotropic glutamate 2 receptors in the adult offspring: role of maternal immune system
Q36621065Principal components of heritability from neurocognitive domains differ between families with schizophrenia and control subjects
Q33830995Prioritization of neurodevelopmental disease genes by discovery of new mutations
Q43450643Problems and solutions to filling the drying drug pipeline for psychiatric disorders: a report from the inaugural 2012 CINP Think Tank
Q33955043Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia
Q34537519Progress and promise of genome-wide association studies for human complex trait genetics
Q37906804Progress in defining the biological causes of schizophrenia
Q38644092Progress in genome-wide association studies of schizophrenia in Han Chinese populations
Q38068612Progress in imaging the effects of psychosis susceptibility gene variants
Q46170366Progress in locating the genetic causes of schizophrenia
Q36076926Properties and power of the Drosophila Synthetic Population Resource for the routine dissection of complex traits.
Q33399605Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
Q42627794Psychiatric family history and schizophrenia risk in Denmark: which mental disorders are relevant?
Q47557531Psychiatric genetics and the structure of psychopathology.
Q51872998Psychiatric genetics gets a boost.
Q37159630Psychosis genetics: modeling the relationship between schizophrenia, bipolar disorder, and mixed (or "schizoaffective") psychoses
Q28576146Quaking regulates Hnrnpa1 expression through its 3' UTR in oligodendrocyte precursor cells
Q34973122RECONSTRUCTING DNA COPY NUMBER BY PENALIZED ESTIMATION AND IMPUTATION.
Q37765631REVIEW: Genome-wide findings in schizophrenia and the role of gene-environment interplay.
Q34018852RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders
Q35081115Random or stochastic monoallelic expressed genes are enriched for neurodevelopmental disorder candidate genes.
Q36770065Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population
Q35533255Rare and common variants: twenty arguments
Q38245817Rare and low-frequency variants in human common diseases and other complex traits
Q34247422Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis
Q22337245Rare chromosomal deletions and duplications increase risk of schizophrenia
Q35632675Rare copy number variants are an important cause of epileptic encephalopathies
Q47236320Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?
Q35764564Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism
Q35764622Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia
Q33922682Rare copy number variation in treatment-resistant major depressive disorder
Q33707696Rare damaging variants in DNA repair and cell cycle pathways are associated with hippocampal and cognitive dysfunction: a combined genetic imaging study in first-episode treatment-naive patients with schizophrenia
Q41768169Rare de novo germline copy-number variation in testicular cancer
Q33847202Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes
Q45796187Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures
Q24605530Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes
Q35956872Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
Q28607995Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
Q29614955Rare variants create synthetic genome-wide associations
Q46601084Reaching a CNV milestone
Q35749660Read clouds uncover variation in complex regions of the human genome
Q64963710Recent Advances in the Genetics of Schizophrenia.
Q41968850Recent advances in the genetics of rheumatoid arthritis
Q37927126Recent genomic advances in schizophrenia
Q64088959Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study
Q37337299Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia
Q34381772Reconstructing DNA copy number by joint segmentation of multiple sequences
Q39448846Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders
Q50302372Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Q36923834Recurrent CNVs disrupt three candidate genes in schizophrenia patients
Q38616673Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
Q47125495Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Q33569995Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Q24629022Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation
Q24655755Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Q29544005Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Q24647145Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Q34004330Reduced CHRNA7 expression in C3H mice is associated with increases in hippocampal parvalbumin and glutamate decarboxylase-67 (GAD67) as well as altered levels of GABA(A) receptor subunits
Q36519585Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks
Q50309743Reduced burden of very large and rare CNVs in bipolar affective disorder.
Q91942578Regulation and Function of Activity-Dependent Homer in Synaptic Plasticity
Q36145999Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia
Q34079175Relative burden of large CNVs on a range of neurodevelopmental phenotypes
Q51140454Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses.
Q34434004Research review: Polygenic methods and their application to psychiatric traits
Q35898713Resequencing and association analysis of the KALRN and EPHB1 genes and their contribution to schizophrenia susceptibility
Q37728113Rethinking the genetic architecture of schizophrenia.
Q34188749Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior
Q60435307Review of the 6th symposium for the search for the causes of schizophrenia, Sao Paulo, Brazil, 3–6 February 2009
Q38926127Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders
Q34580821Robust Detection and Identification of Sparse Segments in Ultra-High Dimensional Data Analysis
Q96953395Role of Neuroinflammation in Autism Spectrum Disorder and the Emergence of Brain Histaminergic System. Lessons Also for BPSD?
Q37298164SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant
Q39705556SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution
Q37936087SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control
Q39566363SZDB: A Database for Schizophrenia Genetic Research
Q30717096Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism
Q55868331Schizophrenia
Q64070812Schizophrenia and Hereditary Polyneuropathy: Deletion as a Common Pathophysiological Link?
Q39880626Schizophrenia at a genetics crossroads: where to now?
Q42325307Schizophrenia copy number variants and associative learning
Q36551460Schizophrenia genetic variants are not associated with intelligence
Q37483078Schizophrenia genetics: new insights from new approaches
Q37997954Schizophrenia genetics: putting all the pieces together
Q34830762Schizophrenia genetics: where next?
Q24595592Schizophrenia is associated with an increase in cortical microRNA biogenesis
Q30468813Schizophrenia risk gene CAV1 is both pro-psychotic and required for atypical antipsychotic drug actions in vivo
Q28727394Schizophrenia, "Just the Facts" 6. Moving ahead with the schizophrenia concept: from the elephant to the mouse
Q59096804Schizophrenia: Incriminating genomic evidence
Q59117302Schizophrenia: The Epidemiological Horizon
Q42822329Schizophrenia: The drug deadlock
Q37461052Schizophrenia: from the brain to peripheral markers. A consensus paper of the WFSBP task force on biological markers
Q43258034Schizophrenia: the "BLOC" may be in the endosomes
Q57807080Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients
Q33611367Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder
Q48234429Searching for new genetic risk factors for neuropsychiatric disorders in expression databases
Q39989454Searching for the true genetic vulnerability for schizophrenia
Q37559492Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future
Q50764053Segmental copy number loss in the region of Semaphorin 4D gene in patients with acetabular dysplasia.
Q50345700Sequence analysis of 17 NRXN1 deletions.
Q37217642Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion
Q50034912Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.
Q40043984Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype.
Q31158031Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus
Q37326513Singleton deletions throughout the genome increase risk of bipolar disorder
Q37021707Social cognition in 22q11.2 microdeletion syndrome: relevance to psychosis?
Q37501275Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls
Q37487752Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network
Q42164701Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases
Q37601955Statistical issues in the analysis of DNA Copy Number Variations
Q39202144Stem cell-derived neurons in the development of targeted treatment for schizophrenia and bipolar disorder
Q24630444Strong synaptic transmission impact by copy number variations in schizophrenia
Q33811233Structural variation in the chicken genome identified by paired-end next-generation DNA sequencing of reduced representation libraries.
Q27691419Structural variation mutagenesis of the human genome: Impact on disease and evolution
Q24308919Structure and control of the actin regulatory WAVE complex
Q28283600Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Q33691327Studies on the hippocampal formation: From basic development to clinical applications: Studies on schizophrenia
Q35542036Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs
Q47394958Subchronic olanzapine exposure leads to increased expression of myelination-related genes in rat fronto-medial cortex.
Q37147142Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
Q37444933Synaptic Actin Dysregulation, a Convergent Mechanism of Mental Disorders?
Q58762401Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models
Q33803707Synthetic associations created by rare variants do not explain most GWAS results
Q34329016Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism
Q34323019Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes
Q36456196Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study
Q48756991Tau's role in the developing brain: implications for intellectual disability.
Q92734934Temporal dynamics of miRNAs in human DLPFC and its association with miRNA dysregulation in schizophrenia
Q42720402The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping
Q28081580The 15q11.2 BP1-BP2 microdeletion syndrome: a review
Q30468033The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders
Q42748361The 3q29 deletion confers >40-fold increase in risk for schizophrenia
Q48235670The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center
Q37239901The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations
Q28658990The Danish 22q11 research initiative
Q28685216The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation
Q22241683The Kraepelinian dichotomy - going, going... but still not gone
Q59812449The Role of the Eukaryotic Translation Initiation Factor 4E (eIF4E) in Neuropsychiatric Disorders
Q35018781The association between intelligence scores and family history of psychiatric disorder in schizophrenia patients, their siblings and healthy controls
Q28572147The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines
Q92353062The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour
Q24308763The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function
Q37704614The clinical context of copy number variation in the human genome
Q35547325The contribution of genetic variants to disease depends on the ruler
Q90712113The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Q22242827The dopamine hypothesis of schizophrenia: version III--the final common pathway
Q91779468The dynamics of disordered dialogue: Prefrontal, hippocampal and thalamic miscommunication underlying working memory deficits in schizophrenia
Q33786964The effect of algorithms on copy number variant detection
Q34714815The effects of aging vs. α7 nAChR subunit deficiency on the mouse brain transcriptome: aging beats the deficiency
Q37578863The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.
Q38006632The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants
Q30386814The exon junction complex in neural development and neurodevelopmental disease.
Q37079514The genetic architecture of methotrexate toxicity is similar in Drosophila melanogaster and humans
Q24607129The genetic basis of addictive disorders
Q34283901The genetic basis of non-syndromic intellectual disability: a review
Q38151716The genetic landscape of autism spectrum disorders
Q33965270The genetic variability and commonality of neurodevelopmental disease
Q35007575The genetics of Tourette disorder
Q35012899The genetics of Tourette syndrome: a review.
Q37390402The genetics of childhood-onset schizophrenia: when madness strikes the prepubescent
Q35765523The genetics of microdeletion and microduplication syndromes: an update.
Q30429472The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population
Q37059547The genomic psychiatry cohort: partners in discovery
Q36799509The genomically mosaic brain: aneuploidy and more in neural diversity and disease
Q34381708The genomics of schizophrenia: update and implications.
Q26821785The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function
Q36144791The human clinical phenotypes of altered CHRNA7 copy number
Q37583679The human endogenous retrovirus link between genes and environment in multiple sclerosis and in multifactorial diseases associating neuroinflammation
Q36931989The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility
Q34279459The hunt for gene effects pertinent to behavioral traits and psychiatric disorders: from mouse to human
Q38231949The hypocretin/orexin system: an increasingly important role in neuropsychiatry.
Q50308309The impact of chromosomal microarray on clinical management: a retrospective analysis.
Q34241597The impact of errors in copy number variation detection algorithms on association results
Q38682213The impact of genetics on future drug discovery in schizophrenia
Q37682292The impact of human copy number variation on a new era of genetic testing.
Q52355396The integrated landscape of causal genes and pathways in schizophrenia.
Q34026930The landscape of inherited and de novo copy number variants in a Plasmodium falciparum genetic cross
Q60920667The many roads to psychosis: recent advances in understanding risk and mechanisms
Q34497136The penetrance of copy number variations for schizophrenia and developmental delay.
Q34694730The phenotype of recurrent 10q22q23 deletions and duplications
Q96302720The polygenic architecture of schizophrenia - rethinking pathogenesis and nosology
Q37294982The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability
Q30471071The presynaptic component of the serotonergic system is required for clozapine's efficacy.
Q37445023The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts
Q36213630The psoriasis-associated deletion of late cornified envelope genes LCE3B and LCE3C has been maintained under balancing selection since Human Denisovan divergence.
Q44876377The road less traveled: from genotype to phenotype in flies and humans.
Q37658896The role of copy number variation in schizophrenia
Q90728372The role of genetics and genomics in clinical psychiatry
Q28748800The role of genetics in the etiology of schizophrenia
Q38910344The schizophrenia risk gene ZNF804A: clinical associations, biological mechanisms and neuronal functions
Q22241409The shock of the new: progress in schizophrenia genomics
Q33626171The translationally relevant mouse model of the 15q13.3 microdeletion syndrome reveals deficits in neuronal spike firing matching clinical neurophysiological biomarkers seen in schizophrenia.
Q38113668The unexpected role of copy number variations in juvenile myoclonic epilepsy
Q38718345Therapeutic 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
Q33409947Tissue-specific genetic control of splicing: implications for the study of complex traits
Q45421412Transcription and pathway analysis of the superior temporal cortex and anterior prefrontal cortex in schizophrenia
Q35604900Transcriptional repression of the α7 nicotinic acetylcholine receptor subunit gene (CHRNA7) by activating protein-2α (AP-2α).
Q35705783Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder
Q35882608Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants
Q57697189Transcriptomic signatures of schizophrenia revealed by dopamine perturbation in an ex vivo model
Q34991710Translational disease interpretation with molecular networks.
Q34220141Translational neuroscience of schizophrenia: seeking a meeting of minds between mouse and man.
Q28771512Transmembrane protein 108 is required for glutamatergic transmission in dentate gyrus
Q37356489Treatment of schizophrenia in the 21st Century: beyond the neurotransmitter hypothesis
Q33960019Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia
Q27004669Two patients walk into a clinic...a genomics perspective on the future of schizophrenia
Q37308665Type 2 diabetes: new genes, new understanding
Q33353558Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease
Q37274686Ultra high risk status and transition to psychosis in 22q11.2 deletion syndrome
Q37755970Uncovering the roles of rare variants in common disease through whole-genome sequencing
Q47702394Understanding neurodevelopmental disorders using human pluripotent stem cell-derived neurons
Q34916111Understanding the genetics of behavioural and psychiatric traits will only be achieved through a realistic assessment of their complexity
Q21202865Understanding the impact of 1q21.1 copy number variant
Q50535284Unique Molecular Regulation of Higher-Order Prefrontal Cortical Circuits: Insights into the Neurobiology of Schizophrenia.
Q30241067Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders
Q28572188Up-regulated cytoplasmic FMRP-interacting protein 1 in intractable temporal lobe epilepsy patients and a rat model
Q37440313Update on the genetics of stroke and cerebrovascular disease 2008.
Q38202490Use of RNA interference by in utero electroporation to study cortical development: the example of the doublecortin superfamily
Q58075316Use of Register Data for Psychiatric Epidemiology in the Nordic Countries
Q24604693Using ERDS to infer copy-number variants in high-coverage genomes
Q30808425Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data
Q38637625Using hiPSCs to model neuropsychiatric copy number variations (CNVs) has potential to reveal underlying disease mechanisms
Q36332602Using human brain imaging studies as a guide toward animal models of schizophrenia.
Q50418525Using mouse transgenic and human stem cell technologies to model genetic mutations associated with schizophrenia and autism.
Q36003093Using multivariate machine learning methods and structural MRI to classify childhood onset schizophrenia and healthy controls
Q36932681Using population admixture to help complete maps of the human genome
Q37642319VTET: a variable threshold exact test for identifying disease-associated copy number variations enriched in short genomic regions
Q43510887Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia.
Q33641952Visualization and probability-based scoring of structural variants within repetitive sequences
Q37612075What have the genomics ever done for the psychoses?
Q42132685What is complex about complex disorders?
Q82255345What price personal genome exploration?
Q38670598When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations
Q37725879Whole genome association studies in complex diseases: where do we stand?
Q36626867Whole-genome detection of disease-associated deletions or excess homozygosity in a case-control study of rheumatoid arthritis
Q39554597Whole-genome resequencing of 292 pigeonpea accessions identifies genomic regions associated with domestication and agronomic traits
Q53297737[Implication of human endogenous retroviruses in schizophrenia and bipolar disorder].
Q50975311[Schizophrenia, genetics and cognition].
Q52674973[Search for risk genes in schizophrenia].
Q38374419eHealth provides a novel opportunity to exploit the advantages of the Nordic countries in psychiatric genetic research, building on the public health care system, biobanks, and registries
Q42976183β-catenin promoter ChIP-chip reveals potential schizophrenia and bipolar disorder gene network

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