0000000000874381

AUTHOR

Russell Schachar

showing 4 related works from this author

Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

2014

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions o…

MaleReceptors Cell Surface/geneticsAutismChild Development Disorders Pervasive/geneticsGene ExpressionGenome-wide association studyMedical and Health SciencesTripartite Motif ProteinsRisk FactorsReceptors2.1 Biological and endogenous factorsProtein IsoformsNerve Tissue Proteins/geneticsCopy-number variationAetiologyChildGenetics (clinical)Sequence DeletionPediatricGenetics & HeredityGeneticseducation.field_of_studySingle NucleotideArticlesGeneral MedicineExonsBiological SciencesMental HealthPhenotypeAutism spectrum disorderOrgan SpecificityCerebellar cortexChild PreschoolCell SurfaceSpeech delayFemalemedicine.symptomTranscription Initiation SiteAttention Deficit Disorder with Hyperactivity/geneticsChromosomes Human Pair 9HumanPair 9AdultPediatric Research InitiativeChild Development DisordersAdolescentDNA Copy Number VariationsIntellectual and Developmental Disabilities (IDD)Ubiquitin-Protein LigasesPopulationTranscription Factors/geneticsNerve Tissue ProteinsReceptors Cell SurfaceBiologyPolymorphism Single NucleotideChromosomesYoung AdultClinical ResearchProtein Isoforms/geneticsBehavioral and Social ScienceGeneticsmedicineAttention deficit hyperactivity disorderHumansGenetic Predisposition to DiseasePolymorphismPreschooleducationMolecular BiologyGenetic Association StudiesPervasiveGlycoproteinsHuman GenomeNeurosciencesInfant NewbornGlycoproteins/geneticsInfantNewbornmedicine.diseaseBrain DisordersAttention Deficit Disorder with HyperactivityChild Development Disorders PervasiveCase-Control StudiesAutismTranscription Factors
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

2013

AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in …

Netherlands Twin Register (NTR)MedizinInheritance PatternsSocial SciencesAUTISM SPECTRUM DISORDERSnosologyheritabilityCOMMON SNPS0302 clinical medicineCrohn DiseaseSCHIZOPHRENIAChildPsychiatric geneticsGenetics & HeredityMAJOR DEPRESSIVE DISORDERRISK0303 health sciencesATTENTION-DEFICIT/HYPERACTIVITY DISORDER120 000 Neuronal CoherenceMental DisordersVariantsBIPOLAR DISORDERASSOCIATIONGenomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3]Psychiatric DisordersCROHNS-DISEASE3. Good healthSchizophreniagenetic association studyMedical geneticsMajor depressive disorderSNPsAdultmedicine.medical_specialtygenetic etiologymedical geneticsDEFICIT HYPERACTIVITY DISORDERBiologyPolymorphism Single Nucleotidebehavioral disciplines and activitiesArticleGenomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]HeritabilityGenetic Heterogeneity03 medical and health sciencesPrevalence of mental disordersmental disorders/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyGeneticsmedicineddc:61HumansAttention deficit hyperactivity disorderGenetic Predisposition to Disease[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyDCN PAC - Perception action and control NCEBP 9 - Mental healthddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersBipolar disorderPsychiatry030304 developmental biologyDepressive Disorder MajorGenome HumanGenetic heterogeneitymedicine.diseaseschizophreniaAttention Deficit Disorder with HyperactivityChild Development Disorders PervasivePerturbações do Desenvolvimento Infantil e Saúde Mental030217 neurology & neurosurgeryGenome-Wide Association Study
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Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.

2022

AbstractBackgroundA recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).MethodsThe discovery GWAS included 19 099 ADHD cases …

cognitionTrastorns per dèficit d'atenció amb hiperactivitat en els infantsMedizinSocial SciencesGenome-wide association studyAttention deficit disorder with hyperactivity in children3202 Applied Psychology2738 Psychiatry and Mental Health0302 clinical medicineAtencióDUPLICATIONS2.1 Biological and endogenous factorsPsychologyAetiologyGenetic riskChildPOPULATIONApplied PsychologyResponse inhibitionPsychiatryREACTION-TIME VARIABILITYCognition10058 Department of Child and Adolescent PsychiatryinhibitionPsychiatry and Mental healthPhenotypeMental Healthpolygenic risk scoresreaction time variabilityCognicióPublic Health and Health Services/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingTrastorns per dèficit d'atenció amb hiperactivitat en els adultsRESPONSE-INHIBITIONClinical psychologyAdultAdolescentDEFICIT HYPERACTIVITY DISORDER610 Medicine & healthGENETIC RISKbehavioral disciplines and activitiesYoung Adult03 medical and health sciencesWORKING-MEMORYSDG 3 - Good Health and Well-beingmental disordersReaction TimeGeneticsmedicineHumansAttention deficit hyperactivity disorderADHDCognitive DysfunctionGENOME-WIDE ASSOCIATIONAssociation (psychology)business.industryPreventionHuman GenomeNeurosciencesGenetic variantsPERFORMANCEmedicine.diseaseAttention Deficit Hyperactivity Disorder (ADHD)030227 psychiatryattentionAttention Deficit Disorder with HyperactivityInhibicióCase-Control StudiesAttention deficit disorder with hyperactivity in adultsPolygenic risk scorebusiness030217 neurology & neurosurgeryGenome-Wide Association StudyPsychological medicine
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Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

2015

G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an an…

Netherlands Twin Register (NTR)Statistical methodsAutismMedizinLOCIGenome-wide association studyheritabilityGenome-wide association studiesHistonesGenètica mèdica0302 clinical medicineHistone methylationDatabases Genetic2.1 Biological and endogenous factorsPsychologyGWASAetiologyPsychiatric geneticsR2Cbipolar disorderPsychiatry0303 health sciencesDisordersLociDepressionGeneral NeuroscienceMental DisordersMedical geneticsMETHYLATIONBrain3rd-DASSerious Mental IllnessPsychiatric Disorders3. Good healthHistoneMental HealthSchizophreniaMental DisorderCognitive Sciences[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]PromotersBDCBURDENRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryHumanSignal Transductionmedicine.medical_specialtyDISORDERSGenomicsNetwork and Pathway Analysis Subgroup of Psychiatric Genomics ConsortiumBurdenBiologyMethylationArticleBiological pathwayPROMOTERS03 medical and health sciencesDatabasesGeneticmedicineGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansGenetic Predisposition to Diseasehistone methylationBipolar disorderPsiquiatriaAUTISMPsychiatry030304 developmental biologyGenetic associationNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Neurology & NeurosurgeryNeuroscience (all)Human GenomeNeurosciencesmedicine.diseaseBrain DisordersGood Health and Well BeingDE-NOVO MUTATIONSPerturbações do Desenvolvimento Infantil e Saúde MentalRC0321SchizophreniaGenome-wide Association StudiesDe-novo mutationsmajor depressionNeuroscience030217 neurology & neurosurgeryGenome-Wide Association Study
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