scholarly article | Q13442814 |
P50 | author | David B. Goldstein | Q15989762 |
Marcella Rietschel | Q20742720 | ||
Evangelos Vassos | Q21094949 | ||
Hans-Jürgen Möller | Q1577771 | ||
Leena Peltonen-Palotie | Q2399315 | ||
Kári Stefánsson | Q6453246 | ||
Robin Murray | Q7352679 | ||
David Collier | Q21094975 | ||
Sven Cichon | Q28050103 | ||
Dan Rujescu | Q28050107 | ||
Augustine Kong | Q28050134 | ||
Hreinn Stefansson | Q28050141 | ||
Unnur Þorsteinsdóttir | Q28050158 | ||
Thomas Werge | Q29122092 | ||
Jes Olesen | Q29643374 | ||
Andrés Ingason | Q114270588 | ||
Olli P H Pietiläinen | Q114270893 | ||
Ragnheidur Fossdal | Q114366499 | ||
Timi Toulopoulou | Q114366501 | ||
Kevin V Shianna | Q114366502 | ||
Arnaldur Gylfason | Q114366504 | ||
Caroline Crombie | Q114366505 | ||
Jacobine E Buizer-Voskamp | Q114366506 | ||
Asgeir Bjornsson | Q114515798 | ||
Dongliang Ge | Q115248929 | ||
Jouko Lönnqvist | Q29840812 | ||
Anna C. Need | Q30347446 | ||
Daníel F. Guðbjartsson | Q30348313 | ||
Barbara Franke | Q30388929 | ||
Aslaug Jonasdottir | Q30434719 | ||
Ole A. Andreassen | Q31229142 | ||
Srdjan Djurovic | Q34568432 | ||
Markus M Nöthen | Q37634364 | ||
Thomas F. Hansen | Q37651587 | ||
Richard Bruggeman | Q37652571 | ||
Adalbjorg Jonasdottir | Q38154259 | ||
Jaana Suvisaari | Q39998334 | ||
Lambertus Kiemeney | Q40024880 | ||
Henrik Ullum | Q40974711 | ||
Clyde Francks | Q42305970 | ||
Muriel Walshe | Q42305977 | ||
Engilbert Sigurdsson | Q43301079 | ||
Thordur Sigmundsson | Q43302977 | ||
Paul M. Matthews | Q43864655 | ||
Alexander Georgi | Q46482741 | ||
Marta Di Forti | Q46888593 | ||
Ingrid Melle | Q47083123 | ||
Tiina Paunio | Q47405528 | ||
Thorgeir E. Thorgeirsson | Q47502252 | ||
Bjarni V. Halldórsson | Q47502536 | ||
Elvira Bramon | Q52013079 | ||
Roel Ophoff | Q58911354 | ||
Gillian M Fraser | Q64683218 | ||
Jeffrey Gulcher | Q66823431 | ||
Nelson A. Freimer | Q67465306 | ||
Ina Giegling | Q79440178 | ||
Thomas W Mühleisen | Q87871468 | ||
Sarah Tosato | Q87889193 | ||
Asgeir Sigurdsson | Q88734369 | ||
Stacy Steinberg | Q89583861 | ||
David St Clair | Q89918892 | ||
Pierandrea Muglia | Q89919709 | ||
Brynja Magnusdottir | Q90090042 | ||
Mirella Ruggeri | Q91764571 | ||
Annette M Hartmann | Q92100086 | ||
Cătălina-Andreea Vasilescu | Q108704680 | ||
P2093 | author name string | Tao Li | |
Chiara Sabatti | |||
Hannes Petursson | |||
Nicholas Walker | |||
Thorarinn Blondal | |||
August G Wang | |||
Klaus D Jakobsen | |||
Magnus Haraldsson | |||
Annamarie Tuulio-Henriksson | |||
Sigurborg Mattiasdottir | |||
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P433 | issue | 7210 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | schizophrenia | Q41112 |
P304 | page(s) | 232-6 | |
P577 | publication date | 2008-09-11 | |
P1433 | published in | Nature | Q180445 |
P1476 | title | Large recurrent microdeletions associated with schizophrenia | |
P478 | volume | 455 |
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Q24642330 | Copy number variation at 1q21.1 associated with neuroblastoma |
Q30439224 | Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders |
Q34078403 | Copy number variation at chromosome 5q21.2 is associated with intraocular pressure |
Q34069542 | Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion |
Q50658828 | Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia. |
Q34019142 | Copy number variation in human health, disease, and evolution |
Q33526497 | Copy number variation in the genomes of twelve natural isolates of Caenorhabditis elegans |
Q34043652 | Copy number variation of the SELENBP1 gene in schizophrenia |
Q83179024 | Copy number variation showers in schizophrenia: an emerging hypothesis |
Q37642520 | Copy number variations and cancer susceptibility |
Q37089619 | Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome |
Q48526031 | Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees. |
Q33833588 | Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease |
Q50302375 | Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders. |
Q36218586 | Copy number variations in 6q14.1 and 5q13.2 are associated with alcohol dependence |
Q36170339 | Copy number variations in Saudi family with intellectual disability and epilepsy |
Q34575267 | Copy number variations in alternative splicing gene networks impact lifespan |
Q35809326 | Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease |
Q35900760 | Copy number variations of chromosome 16p13.1 region associated with schizophrenia |
Q33361975 | Copy number variations play important roles in heredity of common diseases: a novel method to calculate heritability of a polymorphism |
Q34060410 | Copy variations in schizophrenia and bipolar disorder |
Q36451480 | Copy-number disorders are a common cause of congenital kidney malformations |
Q22251090 | Copy-number variations associated with neuropsychiatric conditions |
Q33766621 | Cross-domain neurobiology data integration and exploration |
Q37986834 | Current understanding of human genetics and genetic analysis of psoriasis |
Q92825070 | Cyfip1 Haploinsufficiency Does Not Alter GABAA Receptor δ-Subunit Expression and Tonic Inhibition in Dentate Gyrus PV+ Interneurons and Granule Cells |
Q28566588 | Cyfip1 Regulates Presynaptic Activity during Development |
Q36022165 | DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism |
Q43015032 | DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan |
Q34154488 | DISC1 in schizophrenia: genetic mouse models and human genomic imaging |
Q36485741 | DNA methylation in a Scottish family multiply affected by bipolar disorder and major depressive disorder |
Q36632924 | DNA methylation in schizophrenia: progress and challenges of epigenetic studies |
Q35999462 | DNA sequencing: clinical applications of new DNA sequencing technologies. |
Q22337096 | DUF1220 domains, cognitive disease, and human brain evolution |
Q33398247 | De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. |
Q37353964 | De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot |
Q36632942 | De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention |
Q33650848 | De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability |
Q24621518 | De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia |
Q34239141 | De novo rates and selection of large copy number variation |
Q37361140 | Decanalization and the origin of complex disease |
Q42130079 | Definition and refinement of the 7q36.3 duplication region associated with schizophrenia. |
Q28481601 | Deleterious GRM1 mutations in schizophrenia |
Q33740241 | Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia |
Q52307028 | Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population. |
Q37703015 | Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders |
Q83680991 | Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome |
Q30885441 | Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach |
Q37663717 | Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. |
Q58050566 | Detection of Genomic Imbalances by Array-Based Comparative Genomic Hybridization in Bulgarian Patients with Autism Spectrum Disorders |
Q34132810 | Detection of common copy number variation with application to population clustering from next generation sequencing data |
Q34563191 | Detection of copy number variants reveals association of cilia genes with neural tube defects |
Q34624454 | Detection of copy number variation by SNP-allelotyping. |
Q34356036 | Detection of disease-associated deletions in case-control studies using SNP genotypes with application to rheumatoid arthritis |
Q34928818 | Detection of sharing by descent, long-range phasing and haplotype imputation |
Q33833931 | Determination of beta-defensin genomic copy number in different populations: A comparison of three methods |
Q37371729 | Development and application of genotyping technologies |
Q30477782 | Development of animal models for schizophrenia |
Q33581309 | Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence |
Q38051773 | Developmental psychopathology: the role of structural variation in the genome |
Q37832739 | Developments in schizophrenia genetics: from linkage to microchips, deletions and duplications |
Q39547767 | Different transcription activity of HERV-K LTR-containing and LTR-lacking genes of the KIAA1245/NBPF gene subfamily |
Q34162964 | Differential effects of common variants in SCN2A on general cognitive ability, brain physiology, and messenger RNA expression in schizophrenia cases and control individuals |
Q35390572 | Diminished cerebral inhibition in neonates associated with risk factors for schizophrenia: parental psychosis, maternal depression, and nicotine use. |
Q24618002 | Direct measure of the de novo mutation rate in autism and schizophrenia cohorts |
Q34152841 | Discovering tumor suppressor genes through genome-wide copy number analysis |
Q36358463 | Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth |
Q39108424 | Discovery of copy number variants by multiplex amplifiable probe hybridization (MAPH) in candidate pigmentation genes. |
Q36902087 | Disease signatures for schizophrenia and bipolar disorder using patient-derived induced pluripotent stem cells. |
Q37956490 | Disentangling the myriad genomics of complex disorders, specifically focusing on autism, epilepsy, and schizophrenia |
Q97522036 | Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1. |
Q34775497 | Disorders caused by chromosome abnormalities |
Q24322974 | Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling |
Q30448529 | Disruption of Arp2/3 results in asymmetric structural plasticity of dendritic spines and progressive synaptic and behavioral abnormalities |
Q24647095 | Disruption of the neurexin 1 gene is associated with schizophrenia |
Q43154189 | Disruptive insights in psychiatry: transforming a clinical discipline |
Q41768998 | Distinct disorders affecting the brain share common genetic origins |
Q35538457 | Distinctive transcriptome alterations of prefrontal pyramidal neurons in schizophrenia and schizoaffective disorder. |
Q37174458 | Distribution of disease-associated copy number variants across distinct disorders of cognitive development |
Q33590026 | Divergent structural brain abnormalities between different genetic subtypes of children with Prader-Willi syndrome |
Q36945440 | Diverse types of genetic variation converge on functional gene networks involved in schizophrenia |
Q24600195 | Diversity of human copy number variation and multicopy genes |
Q34249436 | Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk? |
Q33729433 | Dopamine and psychosis: theory, pathomechanisms and intermediate phenotypes |
Q37316924 | Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort. |
Q42321452 | Dosage sensitivity is a major determinant of human copy number variant pathogenicity |
Q35345720 | Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism |
Q41587750 | Dosage-sensitive genes in evolution and disease |
Q88692014 | Double hits in schizophrenia |
Q34964947 | Down syndrome--recent progress and future prospects |
Q38177357 | Drug discovery based on genetic and metabolic findings in schizophrenia |
Q28084198 | Drug models of schizophrenia |
Q37499225 | Duplication hotspots, rare genomic disorders, and common disease |
Q37362339 | Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets. |
Q35956878 | Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia |
Q36565893 | Effects of Self-Rated Health and Self-Rated Economic Situation on Depressed Mood Via Life Satisfaction Among Older Adults in Costa Rica |
Q38440780 | Electrophysiological endophenotypes in rodent models of schizophrenia and psychosis |
Q37377409 | Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans |
Q37964747 | Emerging evidence for the role of genomic instability in male factor infertility |
Q33989579 | Endometriosis is associated with rare copy number variants |
Q93067077 | Endophenotypes in Schizophrenia: Digging Deeper to Identify Genetic Mechanisms |
Q36994725 | Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. |
Q34482708 | Epigenetic signaling in schizophrenia |
Q37563075 | Epigenetics, genomic mutations and cognitive function |
Q92881212 | Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice |
Q33881325 | Ethical challenges in genotype-driven research recruitment |
Q36928804 | Ethnic differentiation of copy number variation on chromosome 16p12.3 for association with obesity phenotypes in European and Chinese populations |
Q36676842 | Evaluating rare variants in complex disorders using next-generation sequencing |
Q51370010 | Evaluating rare variants under two-stage design. |
Q30428422 | Evaluating the role of the alpha-7 nicotinic acetylcholine receptor in the pathophysiology and treatment of schizophrenia |
Q53495664 | Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha. |
Q34192331 | Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses. |
Q22248085 | Evolution in health and medicine Sackler colloquium: Comparative genomics of autism and schizophrenia |
Q33844453 | Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution |
Q37754018 | Evolving role of MeCP2 in Rett syndrome and autism |
Q42623377 | Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders |
Q37480047 | Executive function, neural circuitry, and genetic mechanisms in schizophrenia |
Q24620622 | Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy |
Q36152879 | Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia |
Q34566077 | Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes |
Q29614573 | Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations |
Q30405748 | Exome sequencing supports a de novo mutational paradigm for schizophrenia. |
Q28263929 | Exploring the role of copy number variants in human adaptation |
Q37547308 | Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery |
Q57178492 | Expression Analysis of CYFIP1 and CAMKK2 Genes in the Blood of Epileptic and Schizophrenic Patients |
Q36170457 | Expression QTL analysis of top loci from GWAS meta-analysis highlights additional schizophrenia candidate genes |
Q37058638 | Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia. |
Q97424771 | FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS) |
Q36301683 | Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance |
Q36686684 | Familial cosegregation of rare genetic variants with disease in complex disorders |
Q35702888 | Family-Based Benchmarking of Copy Number Variation Detection Software |
Q37538006 | Finding common susceptibility variants for complex disease: past, present and future |
Q22122198 | Finding the missing heritability of complex diseases |
Q64079960 | Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots |
Q26830603 | Following the genes: a framework for animal modeling of psychiatric disorders |
Q37217009 | Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia |
Q35094193 | Frequent loss of genome gap region in 4p16.3 subtelomere in early-onset type 2 diabetes mellitus |
Q38296769 | From Prader-Willi syndrome to psychosis: translating parent-of-origin effects into schizophrenia research |
Q101390567 | Full function of exon junction complex factor, Rbm8a, is critical for interneuron development |
Q92535236 | Functional Genomics of Epilepsy and Associated Neurodevelopmental Disorders Using Simple Animal Models: From Genes, Molecules to Brain Networks |
Q34639776 | Functional impacts of NRXN1 knockdown on neurodevelopment in stem cell models |
Q63869207 | Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder |
Q36091184 | Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome |
Q30000781 | Fusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsy |
Q30915634 | G-CNV: A GPU-Based Tool for Preparing Data to Detect CNVs with Read-Depth Methods. |
Q53428761 | GABAergic inhibitory neurons as therapeutic targets for cognitive impairment in schizophrenia. |
Q35046123 | GWAS, cytomegalovirus infection, and schizophrenia. |
Q42352511 | GWAS: heritability missing in action? |
Q36906575 | Gender differences in CNV burden do not confound schizophrenia CNV associations. |
Q50345846 | Gene chips unmask cryptic diseases. |
Q27010353 | Gene expression profiling of the brain: pondering facts and fiction |
Q56505464 | Gene surveys identify schizophrenia triggers |
Q28067507 | Gene × Environment Interactions in Schizophrenia: Evidence from Genetic Mouse Models |
Q39682696 | Gene-set analysis based on the pharmacological profiles of drugs to identify repurposing opportunities in schizophrenia. |
Q28303293 | Gene-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 |
Q41986489 | Genes and Small RNA Transcripts Exhibit Dosage-Dependent Expression Pattern in Maize Copy-Number Alterations. |
Q37761136 | Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics |
Q33581609 | Genetic Markers of Human Evolution Are Enriched in Schizophrenia |
Q38886738 | Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases |
Q34162345 | Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders |
Q42605473 | Genetic and morphological features of human iPSC-derived neurons with chromosome 15q11.2 (BP1-BP2) deletions |
Q36825572 | Genetic architecture of quantitative traits in mice, flies, and humans |
Q38112901 | Genetic architecture of reciprocal CNVs |
Q33949729 | Genetic architectures of psychiatric disorders: the emerging picture and its implications |
Q47224735 | Genetic basis of human congenital anomalies of the kidney and urinary tract |
Q37953793 | Genetic contributions to behavioural diversity at the gene-environment interface |
Q33745742 | Genetic copy number variants in sib pairs both affected with schizophrenia. |
Q97905480 | Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study |
Q34539953 | Genetic copy number variation and general cognitive ability |
Q54765119 | Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example. |
Q27027836 | Genetic determinants of depression: recent findings and future directions |
Q92356813 | Genetic insights and neurobiological implications from NRXN1 in neuropsychiatric disorders |
Q42179071 | Genetic overlap between autism, schizophrenia and bipolar disorder |
Q51054097 | Genetic overlap between episodic memory deficits and schizophrenia: results from the Maudsley Twin Study. |
Q34273450 | Genetic polymorphisms in CYP2E1: association with schizophrenia susceptibility and risperidone response in the Chinese Han population. |
Q37699386 | Genetic relationships between schizophrenia, bipolar disorder, and schizoaffective disorder |
Q33669117 | Genetic research into bipolar disorder: the need for a research framework that integrates sophisticated molecular biology and clinically informed phenotype characterization |
Q38344604 | Genetic studies of schizophrenia: an update |
Q52339753 | Genetic susceptibility to neuroblastoma: current knowledge and future directions. |
Q34603780 | Genetic underpinnings of white matter 'connectivity': heritability, risk, and heterogeneity in schizophrenia |
Q56888533 | Genetic variation in 117 myelination-related genes in schizophrenia: Replication of association to lipid biosynthesis genes |
Q26781213 | Genetics and genomics of psychiatric disease |
Q35237268 | Genetics in schizophrenia: where are we and what next? |
Q38731983 | Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play. |
Q39456531 | Genetics of Schizophrenia: Ready to Translate? |
Q84797519 | Genetics of autism spectrum disorders |
Q34974394 | Genetics of autism spectrum disorders. |
Q35104978 | Genetics of childhood obesity |
Q41451951 | Genetics of congenital heart disease |
Q35237159 | Genetics of drug dependence |
Q33744854 | Genetics of psychiatric disorders methods: molecular approaches |
Q22252693 | Genetics of psychosis; insights from views across the genome |
Q33729022 | Genetics of schizophrenia from a clinicial perspective. |
Q38767128 | Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics |
Q37953135 | 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 |
Q35042553 | Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia |
Q59355257 | Genome-Wide Association Study in Vestibular Neuritis: Involvement of the Host Factor for HSV-1 Replication |
Q46700790 | Genome-Wide Mapping of Structural Variations Reveals a Copy Number Variant That Determines Reproductive Morphology in Cucumber. |
Q35758604 | Genome-Wide Study of Structural Variants in Bovine Holstein, Montbéliarde and Normande Dairy Breeds. |
Q63433066 | Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts |
Q36695755 | Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3. |
Q37414540 | Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder |
Q35109411 | Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients |
Q34138007 | Genome-wide approaches to schizophrenia |
Q92454288 | Genome-wide association analysis in West Highland White Terriers with atopic dermatitis |
Q37611740 | Genome-wide association analysis of copy number variation in recurrent depressive disorder. |
Q24645076 | Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants |
Q40393210 | Genome-wide association studies are coming for human infectious diseases |
Q37175234 | Genome-wide association studies in ADHD. |
Q37422991 | Genome-wide association studies--a summary for the clinical gastroenterologist |
Q35001476 | Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis |
Q36486414 | Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia |
Q24628710 | Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls |
Q30303052 | Genome-wide association study of copy number variations (CNVs) with opioid dependence |
Q29417051 | Genome-wide association study of multiplex schizophrenia pedigrees. |
Q57323019 | Genome-wide association study of recurrent major depressive disorder in two European case–control cohorts |
Q33932959 | Genome-wide association study of schizophrenia in Japanese population |
Q24630434 | Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus |
Q40215640 | Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness |
Q37226294 | Genome-wide association uncovers shared genetic effects among personality traits and mood states |
Q35844617 | Genome-wide burden of deleterious coding variants increased in schizophrenia |
Q30427847 | Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music |
Q33587483 | Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies |
Q35083552 | Genome-wide copy-number variation analysis identifies common genetic variants at 20p13 associated with aggressiveness of prostate cancer |
Q37896620 | Genome-wide investigation of rare structural variants identifies VIPR2 as a new candidate gene for schizophrenia |
Q30439012 | Genome-wide linkage analyses of 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia |
Q35977347 | Genome-wide rare copy number variation screening in ulcerative colitis identifies potential susceptibility loci. |
Q33906177 | Genome-wide scan of copy number variation in late-onset Alzheimer's disease |
Q29417060 | Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci |
Q46504843 | Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder |
Q34606096 | Genomewide association studies: history, rationale, and prospects for psychiatric disorders |
Q28752178 | Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms |
Q35201073 | Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder |
Q35109761 | Genomic copy number variation in disorders of cognitive development |
Q37522738 | Genomic copy number variation, human health, and disease |
Q37198442 | Genomic disorders ten years on. |
Q28302565 | Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange |
Q33772616 | Genomic insights into the overlap between psychiatric disorders: implications for research and clinical practice. |
Q33408823 | Genomic landscape of a three-generation pedigree segregating affective disorder |
Q33354553 | Genomic structural variation in psychiatric disorders |
Q47555582 | Genomic trade-offs: are autism and schizophrenia the steep price of the human brain? |
Q37780792 | Genomics and pharmacogenomics of schizophrenia |
Q33937230 | Genomics, intellectual disability, and autism |
Q37654549 | Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era. |
Q93043311 | Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma |
Q38479290 | Global patterns of apparent copy number variation in birds revealed by cross-species comparative genomic hybridization |
Q54441396 | HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. |
Q27325468 | Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice |
Q35597451 | Haplotype phasing and inheritance of copy number variants in nuclear families |
Q37926253 | Heredity in epilepsy: neurodevelopment, comorbidity, and the neurological trait |
Q92709159 | Heterozygous rare genetic variants in non-syndromic early-onset obesity |
Q37578876 | High frequencies of de novo CNVs in bipolar disorder and schizophrenia |
Q34084054 | High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy |
Q37505079 | High rate of disease-related copy number variations in childhood onset schizophrenia. |
Q33480832 | High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. |
Q92419063 | Higher Gestational Choline Levels in Maternal Infection Are Protective for Infant Brain Development |
Q47162671 | Hippocampal Regulation of Postsynaptic Density Homer1 by Associative Learning. |
Q43938609 | Hippocampal α7 nicotinic acetylcholine receptor levels in patients with schizophrenia, bipolar disorder, or major depressive disorder |
Q38943761 | Human adaptation and evolution by segmental duplication |
Q34137857 | Human behavioral informatics in genetic studies of neuropsychiatric disease: multivariate profile-based analysis |
Q50309527 | Human copy number variation and complex genetic disease. |
Q37936473 | Human endogenous retrovirus type W (HERV-W) in schizophrenia: a new avenue of research at the gene-environment interface |
Q29614580 | Human genetic variation and its contribution to complex traits |
Q35635451 | Hypoxia drives transient site-specific copy gain and drug-resistant gene expression. |
Q74433521 | Icelandic biotech feels the pinch |
Q36301065 | Identification and functional characterization of rare SHANK2 variants in schizophrenia |
Q34267003 | Identification of a CACNA2D4 deletion in late onset bipolar disorder patients and implications for the involvement of voltage-dependent calcium channels in psychiatric disorders. |
Q33923615 | Identification of candidate single-nucleotide polymorphisms in NRXN1 related to antipsychotic treatment response in patients with schizophrenia |
Q37386040 | Identification of functional marker proteins in the mammalian growth cone. |
Q41692239 | Identification of novel candidate disease genes from de novo exonic copy number variants. |
Q50306233 | Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype. |
Q33836160 | Identification of structural variation in mouse genomes |
Q35616475 | Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions |
Q33474863 | Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions |
Q30451278 | Imaging and genetics of language and cognition in pediatric epilepsy |
Q37841455 | Imaging genetics of schizophrenia. |
Q34559752 | Impact of constitutional copy number variants on biological pathway evolution |
Q89339812 | Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing |
Q33829829 | Impaired hippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia |
Q37940158 | Implications of gene copy-number variation in health and diseases. |
Q36114041 | Imprinted DLK1-DIO3 region of 14q32 defines a schizophrenia-associated miRNA signature in peripheral blood mononuclear cells |
Q37397396 | Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size. |
Q36580896 | Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation |
Q46401111 | In silico identification of new genetic variations as potential risk factors for Alzheimer's disease in a microarray-oriented simulation |
Q35537136 | Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR |
Q30639738 | Increased LIS1 expression affects human and mouse brain development |
Q59667688 | Increased exonic de novo mutation rate in individuals with schizophrenia |
Q30849515 | Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data |
Q50302965 | Increased paternal age and the influence on burden of genomic copy number variation in the general population. |
Q35861470 | Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia |
Q61771019 | Individuals with 22q11.2 deletion syndrome show intact prediction but reduced adaptation in responses to repeated sounds: Evidence from Bayesian mapping |
Q34923975 | Induced pluripotent stem cells: a new tool to confront the challenge of neuropsychiatric disorders |
Q34182841 | Inferring haplotypes of copy number variations from high-throughput data with uncertainty |
Q30540543 | Inheritance model introduces differential bias in CNV calls between parents and offspring |
Q39785277 | Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia. |
Q22122172 | Initial impact of the sequencing of the human genome |
Q50803888 | Integrated genetic and genomic approach in the SingaporeTranslational and Clinical Research in Psychosis Study: an overview. |
Q91314962 | Interactive effects between hemizygous 15q13.3 microdeletion and peripubertal stress on adult behavioral functions |
Q41921519 | Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability |
Q50312865 | Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family. |
Q35132379 | Investigation of modifier genes within copy number variations in Rett syndrome |
Q34429146 | Investigation of the involvement of MIR185 and its target genes in the development of schizophrenia |
Q37140379 | Involvement of PTPN5, the gene encoding the striatal-enriched protein tyrosine phosphatase, in schizophrenia and cognition |
Q30457731 | Ion channels and schizophrenia: a gene set-based analytic approach to GWAS data for biological hypothesis testing |
Q37808466 | Ionising radiation and genetic risks. XVI. A genome-based framework for risk estimation in the light of recent advances in genome research |
Q35742294 | Isochromosome 13 in a patient with childhood-onset schizophrenia, ADHD, and motor tic disorder |
Q36004324 | KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant |
Q34959002 | Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. |
Q52606417 | KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses. |
Q46544707 | LINE-1 Retrotransposons in Healthy and Diseased Human Brain |
Q43063737 | Lack of association between MAGEL2 and schizophrenia and mood disorders in the Japanese population |
Q43852892 | Lack of association of the 5-HT(3A) receptor with schizophrenia |
Q54989953 | Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS. |
Q24623878 | Large, rare chromosomal deletions associated with severe early-onset obesity |
Q58462542 | Letter to the Editor: Strong evidence for multiple psychosis susceptibility genes – a rejoinder to Crow |
Q37084586 | Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder |
Q61829441 | Lifetime reproductive output over two generations in patients with psychosis and their unaffected siblings: the Uppsala 1915–1929 Birth Cohort Multigenerational Study |
Q37290557 | Linkage analysis of schizophrenia in African-American families |
Q37166689 | Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes |
Q60044520 | Local and global chromatin interactions are altered by large genomic deletions associated with human brain development |
Q40966399 | Long tandem repeats as a form of genomic copy number variation: structure and length polymorphism of a chromosome 5p repeat in control and schizophrenia populations |
Q96172138 | Long-read human genome sequencing and its applications |
Q34700227 | Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders. |
Q24615307 | Mapping copy number variation by population-scale genome sequencing |
Q84866745 | Mapping duplicated sequences |
Q33425649 | Markov Models for inferring copy number variations from genotype data on Illumina platforms |
Q36193455 | Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness |
Q38272133 | Medical conditions in autism spectrum disorders |
Q34286145 | Meta-analysis of 15 genome-wide linkage scans of smoking behavior |
Q37274086 | Meta-analysis of 32 genome-wide linkage studies of schizophrenia. |
Q37992401 | MicroRNA dysregulation in neuropsychiatric disorders and cognitive dysfunction |
Q35216295 | MicroRNA expression profiling in the prefrontal cortex of individuals affected with schizophrenia and bipolar disorders |
Q34394249 | MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review |
Q37730250 | MicroRNAs in psychiatric and neurodevelopmental disorders |
Q26744819 | MicroRNAs: Key Regulators in the Central Nervous System and Their Implication in Neurological Diseases |
Q33736973 | Microarray-based gene expression profiling and DNA copy number variation analysis of temporal fossa arachnoid cysts |
Q37419604 | Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. |
Q50312488 | Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay. |
Q36072998 | Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. |
Q34050937 | Microdeletions of 3q29 confer high risk for schizophrenia |
Q24634151 | Microduplications of 16p11.2 are associated with schizophrenia |
Q38205899 | Mind the gap: why many geneticists and psychological scientists have discrepant views about gene-environment interaction (G×E) research |
Q30479819 | Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain |
Q34540416 | Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity |
Q28081179 | Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development |
Q92338797 | Modeling and Predicting Developmental Trajectories of Neuropsychiatric Dimensions Associated With Copy Number Variations |
Q37055287 | Modeling cognitive endophenotypes of schizophrenia in mice |
Q24633007 | Modelling schizophrenia using human induced pluripotent stem cells |
Q50307016 | Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. |
Q47140966 | Modulating Neuroinflammation to Treat Neuropsychiatric Disorders |
Q37742118 | Molecular diagnostics: between chips and customized medicine |
Q46168265 | Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study |
Q27691100 | Molecular mechanisms in 22q11 deletion syndrome |
Q42649179 | Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility |
Q47609682 | Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder. |
Q35015379 | Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes |
Q29013643 | Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism |
Q37427373 | Multiple genes in the 15q13-q14 chromosomal region are associated with schizophrenia |
Q30459624 | Muscarinic and nicotinic acetylcholine receptor agonists and allosteric modulators for the treatment of schizophrenia |
Q44196200 | Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia |
Q37138653 | NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits |
Q51825997 | NF1 microduplications: identification of seven nonrelated individuals provides further characterization of the phenotype. |
Q36718684 | NMDA hypofunction as a convergence point for progression and symptoms of schizophrenia |
Q35237190 | Nature and nurture in neuropsychiatric genetics: where do we stand? |
Q34979398 | Neural substrates of pleiotropic action of genetic variation in COMT: a meta-analysis |
Q37309811 | Neuregulin 1-erbB4 pathway in schizophrenia: From genes to an interactome |
Q45941265 | Neuregulin-1 genotypes and eye movements in schizophrenia. |
Q102063568 | Neurexins in autism and schizophrenia-a review of patient mutations, mouse models and potential future directions |
Q37832780 | Neurobiology and phenotypic expression in early onset schizophrenia |
Q37834929 | Neurobiology of attention deficit/hyperactivity disorder |
Q35659746 | Neurocognition in early-onset schizophrenia and schizoaffective disorders |
Q30442237 | Neurodevelopment in schizophrenia: the role of the wnt pathways |
Q34675943 | Neurodevelopment, GABA system dysfunction, and schizophrenia |
Q36417310 | Neurodevelopmental model of schizophrenia: update 2012 |
Q38225161 | Neuromodulation by acetylcholine: examples from schizophrenia and depression |
Q34956275 | Neuronal chromatin dynamics of imprinting in development and disease |
Q37344755 | Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation |
Q49723099 | New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. |
Q33725544 | New copy number variations in schizophrenia. |
Q38614141 | New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings |
Q37374232 | New findings from genetic association studies of schizophrenia |
Q35237172 | New findings in the genetics of major psychoses |
Q30468290 | New frontiers in animal research of psychiatric illness |
Q38189979 | Nicotinic acetylcholine receptors in human genetic disease |
Q36345854 | No 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? |
Q46116562 | No association between general cognitive ability and rare copy number variation |
Q50303685 | No evidence that common genetic risk variation is shared between schizophrenia and autism. |
Q45928430 | No evidence that rare coding variants in ZNF804A confer risk of schizophrenia. |
Q39965238 | No evidence that runs of homozygosity are associated with schizophrenia in an Irish genome-wide association dataset |
Q34505634 | Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis |
Q38241786 | Novel treatment strategies for schizophrenia from improved understanding of genetic risk |
Q50209842 | OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome. |
Q37474789 | Ohnologs are overrepresented in pathogenic copy number mutations |
Q34953729 | Olfactory copy number association with age at onset of Alzheimer disease |
Q37894742 | Oligonucleotide microarrays in constitutional genetic diagnosis |
Q34085510 | On the analysis of sequence data: testing for disease susceptibility loci using patterns of linkage disequilibrium |
Q38215322 | One gene, many neuropsychiatric disorders: lessons from Mendelian diseases. |
Q55115610 | Opposing phenotypes in mice with Smith-Magenis deletion and Potocki-Lupski duplication syndromes suggest gene dosage effects on fluid consumption behavior. |
Q30630496 | Optogenetics in psychiatric animal models |
Q36899772 | Ordered subset analysis of copy number variation association with age at onset of Alzheimer's disease |
Q37114924 | Ordered subset linkage analysis based on admixture proportion identifies new linkage evidence for alcohol dependence in African-Americans |
Q30479118 | Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice |
Q91554696 | Overdispersed gene expression in schizophrenia |
Q97531486 | Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders |
Q38905317 | Overview of the Genetics of Alcohol Use Disorder |
Q33854995 | Oxidative stress-driven parvalbumin interneuron impairment as a common mechanism in models of schizophrenia |
Q34248252 | PAIR: polymorphic Alu insertion recognition |
Q92006503 | Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution |
Q34572542 | Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability |
Q36554182 | Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice |
Q37332708 | Patient participation in fundamental psychiatric genomics research: a Dutch case study |
Q50303296 | Penetrance for copy number variants associated with schizophrenia. |
Q26852636 | Perioperative genomics |
Q30884325 | Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint |
Q29614582 | Personal genomes: The case of the missing heritability |
Q37768070 | Pharmacogenetic testing and therapeutic drug monitoring are complementary tools for optimal individualization of drug therapy. |
Q53404095 | Phenotype evaluation and genomewide linkage study of clinical variables in schizophrenia. |
Q35030847 | Phenotype mining in CNV carriers from a population cohort |
Q36498543 | Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder |
Q27322785 | Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models |
Q36387744 | Phenotypic heterogeneity of genomic disorders and rare copy-number variants |
Q34323221 | Phenotypic impact of genomic structural variation: insights from and for human disease |
Q37784332 | Phenotypic variability and genetic susceptibility to genomic disorders |
Q57419525 | Phenotypic variations on the theme of CNVs |
Q56806254 | Pilot Study on Schizophrenia in Sardinia |
Q37877244 | Planning a genome-wide association study: points to consider |
Q37156109 | Population analysis of large copy number variants and hotspots of human genetic disease |
Q30844540 | Population clustering based on copy number variations detected from next generation sequencing data |
Q33698577 | Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia |
Q39170724 | Positive Traits in the Bipolar Spectrum: The Space between Madness and Genius |
Q33819207 | Potential Value of Genomic Copy Number Variations in Schizophrenia |
Q26827502 | Preclinical models of antipsychotic drug action |
Q40358052 | Predictors of current functioning and functional decline in schizophrenia |
Q27022263 | Prenatal choline and the development of schizophrenia |
Q37013377 | Prenatal stress induces schizophrenia-like alterations of serotonin 2A and metabotropic glutamate 2 receptors in the adult offspring: role of maternal immune system |
Q36621065 | Principal components of heritability from neurocognitive domains differ between families with schizophrenia and control subjects |
Q33830995 | Prioritization of neurodevelopmental disease genes by discovery of new mutations |
Q43450643 | Problems and solutions to filling the drying drug pipeline for psychiatric disorders: a report from the inaugural 2012 CINP Think Tank |
Q33955043 | Progranulin (GRN) in two siblings of a Latino family and in other patients with schizophrenia |
Q34537519 | Progress and promise of genome-wide association studies for human complex trait genetics |
Q37906804 | Progress in defining the biological causes of schizophrenia |
Q38644092 | Progress in genome-wide association studies of schizophrenia in Han Chinese populations |
Q38068612 | Progress in imaging the effects of psychosis susceptibility gene variants |
Q46170366 | Progress in locating the genetic causes of schizophrenia |
Q36076926 | Properties and power of the Drosophila Synthetic Population Resource for the routine dissection of complex traits. |
Q33399605 | Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes |
Q42627794 | Psychiatric family history and schizophrenia risk in Denmark: which mental disorders are relevant? |
Q47557531 | Psychiatric genetics and the structure of psychopathology. |
Q51872998 | Psychiatric genetics gets a boost. |
Q37159630 | Psychosis genetics: modeling the relationship between schizophrenia, bipolar disorder, and mixed (or "schizoaffective") psychoses |
Q28576146 | Quaking regulates Hnrnpa1 expression through its 3' UTR in oligodendrocyte precursor cells |
Q34973122 | RECONSTRUCTING DNA COPY NUMBER BY PENALIZED ESTIMATION AND IMPUTATION. |
Q37765631 | REVIEW: Genome-wide findings in schizophrenia and the role of gene-environment interplay. |
Q34018852 | RNA-Seq of human neurons derived from iPS cells reveals candidate long non-coding RNAs involved in neurogenesis and neuropsychiatric disorders |
Q35081115 | Random or stochastic monoallelic expressed genes are enriched for neurodevelopmental disorder candidate genes. |
Q36770065 | Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population |
Q35533255 | Rare and common variants: twenty arguments |
Q38245817 | Rare and low-frequency variants in human common diseases and other complex traits |
Q34247422 | Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis |
Q22337245 | Rare chromosomal deletions and duplications increase risk of schizophrenia |
Q35632675 | Rare copy number variants are an important cause of epileptic encephalopathies |
Q47236320 | Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not? |
Q35764564 | Rare copy number variants in tourette syndrome disrupt genes in histaminergic pathways and overlap with autism |
Q35764622 | Rare copy number variants: a point of rarity in genetic risk for bipolar disorder and schizophrenia |
Q33922682 | Rare copy number variation in treatment-resistant major depressive disorder |
Q33707696 | Rare 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 |
Q41768169 | Rare de novo germline copy-number variation in testicular cancer |
Q33847202 | Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes |
Q45796187 | Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures |
Q24605530 | Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes |
Q35956872 | Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders |
Q28607995 | Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals |
Q29614955 | Rare variants create synthetic genome-wide associations |
Q46601084 | Reaching a CNV milestone |
Q35749660 | Read clouds uncover variation in complex regions of the human genome |
Q64963710 | Recent Advances in the Genetics of Schizophrenia. |
Q41968850 | Recent advances in the genetics of rheumatoid arthritis |
Q37927126 | Recent genomic advances in schizophrenia |
Q64088959 | Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study |
Q37337299 | Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia |
Q34381772 | Reconstructing DNA copy number by joint segmentation of multiple sequences |
Q39448846 | Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders |
Q50302372 | Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity. |
Q36923834 | Recurrent CNVs disrupt three candidate genes in schizophrenia patients |
Q38616673 | Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications |
Q47125495 | Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications. |
Q33569995 | Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies |
Q24629022 | Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation |
Q24655755 | Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes |
Q29544005 | Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size |
Q24647145 | Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities |
Q34004330 | Reduced 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 |
Q36519585 | Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks |
Q50309743 | Reduced burden of very large and rare CNVs in bipolar affective disorder. |
Q91942578 | Regulation and Function of Activity-Dependent Homer in Synaptic Plasticity |
Q36145999 | Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia |
Q34079175 | Relative burden of large CNVs on a range of neurodevelopmental phenotypes |
Q51140454 | Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses. |
Q34434004 | Research review: Polygenic methods and their application to psychiatric traits |
Q35898713 | Resequencing and association analysis of the KALRN and EPHB1 genes and their contribution to schizophrenia susceptibility |
Q37728113 | Rethinking the genetic architecture of schizophrenia. |
Q34188749 | Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior |
Q60435307 | Review of the 6th symposium for the search for the causes of schizophrenia, Sao Paulo, Brazil, 3–6 February 2009 |
Q38926127 | Risk alleles of genes with monoallelic expression are enriched in gain-of-function variants and depleted in loss-of-function variants for neurodevelopmental disorders |
Q34580821 | Robust Detection and Identification of Sparse Segments in Ultra-High Dimensional Data Analysis |
Q96953395 | Role of Neuroinflammation in Autism Spectrum Disorder and the Emergence of Brain Histaminergic System. Lessons Also for BPSD? |
Q37298164 | SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant |
Q39705556 | SMARCA2 and other genome-wide supported schizophrenia-associated genes: regulation by REST/NRSF, network organization and primate-specific evolution |
Q37936087 | SNP array analysis in constitutional and cancer genome diagnostics--copy number variants, genotyping and quality control |
Q39566363 | SZDB: A Database for Schizophrenia Genetic Research |
Q30717096 | Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism |
Q55868331 | Schizophrenia |
Q64070812 | Schizophrenia and Hereditary Polyneuropathy: Deletion as a Common Pathophysiological Link? |
Q39880626 | Schizophrenia at a genetics crossroads: where to now? |
Q42325307 | Schizophrenia copy number variants and associative learning |
Q36551460 | Schizophrenia genetic variants are not associated with intelligence |
Q37483078 | Schizophrenia genetics: new insights from new approaches |
Q37997954 | Schizophrenia genetics: putting all the pieces together |
Q34830762 | Schizophrenia genetics: where next? |
Q24595592 | Schizophrenia is associated with an increase in cortical microRNA biogenesis |
Q30468813 | Schizophrenia risk gene CAV1 is both pro-psychotic and required for atypical antipsychotic drug actions in vivo |
Q28727394 | Schizophrenia, "Just the Facts" 6. Moving ahead with the schizophrenia concept: from the elephant to the mouse |
Q59096804 | Schizophrenia: Incriminating genomic evidence |
Q59117302 | Schizophrenia: The Epidemiological Horizon |
Q42822329 | Schizophrenia: The drug deadlock |
Q37461052 | Schizophrenia: from the brain to peripheral markers. A consensus paper of the WFSBP task force on biological markers |
Q43258034 | Schizophrenia: the "BLOC" may be in the endosomes |
Q57807080 | Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients |
Q33611367 | Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder |
Q48234429 | Searching for new genetic risk factors for neuropsychiatric disorders in expression databases |
Q39989454 | Searching for the true genetic vulnerability for schizophrenia |
Q37559492 | Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the future |
Q50764053 | Segmental copy number loss in the region of Semaphorin 4D gene in patients with acetabular dysplasia. |
Q50345700 | Sequence analysis of 17 NRXN1 deletions. |
Q37217642 | Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion |
Q50034912 | Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap. |
Q40043984 | Shifting the focus toward rare variants in schizophrenia to close the gap from genotype to phenotype. |
Q31158031 | Simultaneous copy number losses within multiple subtelomeric regions in early-onset type 2 diabetes mellitus |
Q37326513 | Singleton deletions throughout the genome increase risk of bipolar disorder |
Q37021707 | Social cognition in 22q11.2 microdeletion syndrome: relevance to psychosis? |
Q37501275 | Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls |
Q37487752 | Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network |
Q42164701 | Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases |
Q37601955 | Statistical issues in the analysis of DNA Copy Number Variations |
Q39202144 | Stem cell-derived neurons in the development of targeted treatment for schizophrenia and bipolar disorder |
Q24630444 | Strong synaptic transmission impact by copy number variations in schizophrenia |
Q33811233 | Structural variation in the chicken genome identified by paired-end next-generation DNA sequencing of reduced representation libraries. |
Q27691419 | Structural variation mutagenesis of the human genome: Impact on disease and evolution |
Q24308919 | Structure and control of the actin regulatory WAVE complex |
Q28283600 | Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? |
Q33691327 | Studies on the hippocampal formation: From basic development to clinical applications: Studies on schizophrenia |
Q35542036 | Study designs for identification of rare disease variants in complex diseases: the utility of family-based designs |
Q47394958 | Subchronic olanzapine exposure leads to increased expression of myelination-related genes in rat fronto-medial cortex. |
Q37147142 | Support for the involvement of large copy number variants in the pathogenesis of schizophrenia |
Q37444933 | Synaptic Actin Dysregulation, a Convergent Mechanism of Mental Disorders? |
Q58762401 | Synaptic dysfunction in neurodegenerative and neurodevelopmental diseases: an overview of induced pluripotent stem-cell-based disease models |
Q33803707 | Synthetic associations created by rare variants do not explain most GWAS results |
Q34329016 | Systematic genotype-phenotype analysis of autism susceptibility loci implicates additional symptoms to co-occur with autism |
Q34323019 | Systematic prioritization and integrative analysis of copy number variations in schizophrenia reveal key schizophrenia susceptibility genes |
Q36456196 | Targeted pharmacogenetic analysis of antipsychotic response in the CATIE study |
Q48756991 | Tau's role in the developing brain: implications for intellectual disability. |
Q92734934 | Temporal dynamics of miRNAs in human DLPFC and its association with miRNA dysregulation in schizophrenia |
Q42720402 | The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping |
Q28081580 | The 15q11.2 BP1-BP2 microdeletion syndrome: a review |
Q30468033 | The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders |
Q42748361 | The 3q29 deletion confers >40-fold increase in risk for schizophrenia |
Q48235670 | The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center |
Q37239901 | The DISC locus and schizophrenia: evidence from an association study in a central European sample and from a meta-analysis across different European populations |
Q28658990 | The Danish 22q11 research initiative |
Q28685216 | The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation |
Q22241683 | The Kraepelinian dichotomy - going, going... but still not gone |
Q59812449 | The Role of the Eukaryotic Translation Initiation Factor 4E (eIF4E) in Neuropsychiatric Disorders |
Q35018781 | The association between intelligence scores and family history of psychiatric disorder in schizophrenia patients, their siblings and healthy controls |
Q28572147 | The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines |
Q92353062 | The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour |
Q24308763 | The chimeric gene CHRFAM7A, a partial duplication of the CHRNA7 gene, is a dominant negative regulator of α7*nAChR function |
Q37704614 | The clinical context of copy number variation in the human genome |
Q35547325 | The contribution of genetic variants to disease depends on the ruler |
Q90712113 | The copy number variation landscape of congenital anomalies of the kidney and urinary tract |
Q22242827 | The dopamine hypothesis of schizophrenia: version III--the final common pathway |
Q91779468 | The dynamics of disordered dialogue: Prefrontal, hippocampal and thalamic miscommunication underlying working memory deficits in schizophrenia |
Q33786964 | The effect of algorithms on copy number variant detection |
Q34714815 | The effects of aging vs. α7 nAChR subunit deficiency on the mouse brain transcriptome: aging beats the deficiency |
Q37578863 | The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1. |
Q38006632 | The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants |
Q30386814 | The exon junction complex in neural development and neurodevelopmental disease. |
Q37079514 | The genetic architecture of methotrexate toxicity is similar in Drosophila melanogaster and humans |
Q24607129 | The genetic basis of addictive disorders |
Q34283901 | The genetic basis of non-syndromic intellectual disability: a review |
Q38151716 | The genetic landscape of autism spectrum disorders |
Q33965270 | The genetic variability and commonality of neurodevelopmental disease |
Q35007575 | The genetics of Tourette disorder |
Q35012899 | The genetics of Tourette syndrome: a review. |
Q37390402 | The genetics of childhood-onset schizophrenia: when madness strikes the prepubescent |
Q35765523 | The genetics of microdeletion and microduplication syndromes: an update. |
Q30429472 | The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population |
Q37059547 | The genomic psychiatry cohort: partners in discovery |
Q36799509 | The genomically mosaic brain: aneuploidy and more in neural diversity and disease |
Q34381708 | The genomics of schizophrenia: update and implications. |
Q26821785 | The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function |
Q36144791 | The human clinical phenotypes of altered CHRNA7 copy number |
Q37583679 | The human endogenous retrovirus link between genes and environment in multiple sclerosis and in multifactorial diseases associating neuroinflammation |
Q36931989 | The human imprintome: regulatory mechanisms, methods of ascertainment, and roles in disease susceptibility |
Q34279459 | The hunt for gene effects pertinent to behavioral traits and psychiatric disorders: from mouse to human |
Q38231949 | The hypocretin/orexin system: an increasingly important role in neuropsychiatry. |
Q50308309 | The impact of chromosomal microarray on clinical management: a retrospective analysis. |
Q34241597 | The impact of errors in copy number variation detection algorithms on association results |
Q38682213 | The impact of genetics on future drug discovery in schizophrenia |
Q37682292 | The impact of human copy number variation on a new era of genetic testing. |
Q52355396 | The integrated landscape of causal genes and pathways in schizophrenia. |
Q34026930 | The landscape of inherited and de novo copy number variants in a Plasmodium falciparum genetic cross |
Q60920667 | The many roads to psychosis: recent advances in understanding risk and mechanisms |
Q34497136 | The penetrance of copy number variations for schizophrenia and developmental delay. |
Q34694730 | The phenotype of recurrent 10q22q23 deletions and duplications |
Q96302720 | The polygenic architecture of schizophrenia - rethinking pathogenesis and nosology |
Q37294982 | The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability |
Q30471071 | The presynaptic component of the serotonergic system is required for clozapine's efficacy. |
Q37445023 | The prevalence of chromosomal deletions relating to developmental delay and/or intellectual disability in human euploid blastocysts |
Q36213630 | The psoriasis-associated deletion of late cornified envelope genes LCE3B and LCE3C has been maintained under balancing selection since Human Denisovan divergence. |
Q44876377 | The road less traveled: from genotype to phenotype in flies and humans. |
Q37658896 | The role of copy number variation in schizophrenia |
Q90728372 | The role of genetics and genomics in clinical psychiatry |
Q28748800 | The role of genetics in the etiology of schizophrenia |
Q38910344 | The schizophrenia risk gene ZNF804A: clinical associations, biological mechanisms and neuronal functions |
Q22241409 | The shock of the new: progress in schizophrenia genomics |
Q33626171 | The translationally relevant mouse model of the 15q13.3 microdeletion syndrome reveals deficits in neuronal spike firing matching clinical neurophysiological biomarkers seen in schizophrenia. |
Q38113668 | The unexpected role of copy number variations in juvenile myoclonic epilepsy |
Q38718345 | 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 |
Q33409947 | Tissue-specific genetic control of splicing: implications for the study of complex traits |
Q45421412 | Transcription and pathway analysis of the superior temporal cortex and anterior prefrontal cortex in schizophrenia |
Q35604900 | Transcriptional repression of the α7 nicotinic acetylcholine receptor subunit gene (CHRNA7) by activating protein-2α (AP-2α). |
Q35705783 | Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder |
Q35882608 | Transcriptome outlier analysis implicates schizophrenia susceptibility genes and enriches putatively functional rare genetic variants |
Q57697189 | Transcriptomic signatures of schizophrenia revealed by dopamine perturbation in an ex vivo model |
Q34991710 | Translational disease interpretation with molecular networks. |
Q34220141 | Translational neuroscience of schizophrenia: seeking a meeting of minds between mouse and man. |
Q28771512 | Transmembrane protein 108 is required for glutamatergic transmission in dentate gyrus |
Q37356489 | Treatment of schizophrenia in the 21st Century: beyond the neurotransmitter hypothesis |
Q33960019 | Two non-synonymous markers in PTPN21, identified by genome-wide association study data-mining and replication, are associated with schizophrenia |
Q27004669 | Two patients walk into a clinic...a genomics perspective on the future of schizophrenia |
Q37308665 | Type 2 diabetes: new genes, new understanding |
Q33353558 | Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease |
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