Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders

Reimagining psychoses: An agnostic approach to diagnosis

(2013) Matcheri S. Keshavan et al.   SCHIZOPHRENIA RESEARCH

Analysis of Copy Number Variations in Brain DNA from Patients with Schizophrenia and Other Psychiatric Disorders

(2012) Tianzhang Ye et al.   BIOLOGICAL PSYCHIATRY

Genotype-phenotype correlation in 22q11.2 deletion syndrome

(2012) Elena Michaelovsky et al.   BMC Medical Genetics

Cognitive development in children with 22q11.2 deletion syndrome

(2012) Sasja N. Duijff et al.   BRITISH JOURNAL OF PSYCHIATRY

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Functional outcomes of adults with 22q11.2 deletion syndrome

(2012) Nancy J. Butcher et al.   GENETICS IN MEDICINE

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

Alterations of social interaction through genetic and environmental manipulation of the 22q11.2 gene Sept5 in the mouse brain

(2012) Kathryn M. Harper et al.   HUMAN MOLECULAR GENETICS

Evaluation of Six SNPs of MicroRNA Machinery Genes and Risk of Schizophrenia

(2012) Yi Zhou et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Startle reactivity and prepulse inhibition of the acoustic startle response are modulated by catechol-O-methyl-transferase Val158 Met polymorphism in adults with 22q11 deletion syndrome

(2012) Mariken B de Koning et al.   JOURNAL OF PSYCHOPHARMACOLOGY

Convergent functional genomics of schizophrenia: from comprehensive understanding to genetic risk prediction

(2012) M Ayalew et al.   MOLECULAR PSYCHIATRY

Genetic architectures of psychiatric disorders: the emerging picture and its implications

(2012) Patrick F. Sullivan et al.   NATURE REVIEWS GENETICS

Systematic association analysis of microRNA machinery genes with schizophrenia informs further study

(2012) Fuquan Zhang et al.   NEUROSCIENCE LETTERS

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome

(2012) Maude Schneider et al.   PSYCHIATRY RESEARCH

Expression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion

(2012) Jacob A.S. Vorstman et al.   SCHIZOPHRENIA RESEARCH

The social motivation theory of autism

(2012) Coralie Chevallier et al.   TRENDS IN COGNITIVE SCIENCES

Common genetic variants, acting additively, are a major source of risk for autism

(2012) Lambertus Klei et al.   Molecular Autism

Association study of Nogo-related genes with schizophrenia in a Japanese case-control sample

(2011) Daisuke Jitoku et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At-Risk for psychosis

(2011) Paula C. Goldenberg et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications

(2011) Douglas F. Levinson et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3

(2011) Nigel M. Williams et al.   AMERICAN JOURNAL OF PSYCHIATRY

Investigating the Contribution of Common Genetic Variants to the Risk and Pathogenesis of ADHD

(2011) Evangelia Stergiakouli et al.   AMERICAN JOURNAL OF PSYCHIATRY

Influence of the COMT Genotype on Working Memory and Brain Activity Changes During Development

(2011) Iroise Dumontheil et al.   BIOLOGICAL PSYCHIATRY

Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model

(2011) Takeshi Hiramoto et al.   HUMAN MOLECULAR GENETICS

Genetic vs. pharmacological inactivation of COMT influences cannabinoid-induced expression of schizophrenia-related phenotypes

(2011) Colm M. P. O'Tuathaigh et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Is theory of mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)?

(2011) Linda E. Campbell et al.   Journal of Neurodevelopmental Disorders

Dopamine metabolism in adults with 22q11 deletion syndrome, with and without schizophrenia – relationship with COMT Val108/158 Met polymorphism, gender and symptomatology

(2011) Erik Boot et al.   JOURNAL OF PSYCHOPHARMACOLOGY

Common variants on 8p12 and 1q24.2 confer risk of schizophrenia

(2011) Yongyong Shi et al.   NATURE GENETICS

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

(2011) Josephine Elia et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism

(2011) G. Horev et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lack of association of the RTN4R genetic variations with risk of schizophrenia and SPEM abnormality in a Korean population

(2011) Charisse Flerida A. Pasaje et al.   PSYCHIATRY RESEARCH

Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay

(2011) Ingrid Bartsch et al.   THROMBOSIS AND HAEMOSTASIS

Testing for genetic association between the ZDHHC8 gene locus and susceptibility to schizophrenia: An integrated analysis of multiple datasets

(2010) Mingqing Xu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Elevated Prevalence of Generalized Anxiety Disorder in Adults With 22q11.2 Deletion Syndrome

(2010) Wai Lun Alan Fung et al.   AMERICAN JOURNAL OF PSYCHIATRY

Executive Functions and Memory Abilities in Children With 22q11.2 Deletion Syndrome

(2010) Linda E. Campbell et al.   AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY

The benefit of directly comparing autism and schizophrenia for revealing mechanisms of social cognitive impairment

(2010) Noah J. Sasson et al.   Journal of Neurodevelopmental Disorders

Atypical development of the executive attention network in children with chromosome 22q11.2 deletion syndrome

(2010) Joel Stoddard et al.   Journal of Neurodevelopmental Disorders

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

Lack of developmental improvement on a face memory task during adolescence in autism

(2010) Kirsten O’Hearn et al.   NEUROPSYCHOLOGIA

Chronic Adolescent Exposure to Δ-9-Tetrahydrocannabinol in COMT Mutant Mice: Impact on Psychosis-Related and Other Phenotypes

(2010) Colm MP O'Tuathaigh et al.   NEUROPSYCHOPHARMACOLOGY

Decreased Exploratory Activity in a Mouse Model of 15q Duplication Syndrome; Implications for Disturbance of Serotonin Signaling

(2010) Kota Tamada et al.   PLoS One

Association study between GNB1L and three major mental disorders in Chinese Han populations

(2010) You Li et al.   PSYCHIATRY RESEARCH

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

(2009) Jin Nakatani et al.   CELL

Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study

(2009) Gian Paolo Ramelli et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice

(2009) G. Suzuki et al.   HUMAN MOLECULAR GENETICS

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Sept5 deficiency exerts pleiotropic influence on affective behaviors and cognitive functions in mice

(2009) G. Suzuki et al.   HUMAN MOLECULAR GENETICS

Analysis of prepulse inhibition in mouse lines overexpressing 22q11.2 orthologues

(2009) Kimberly L. Stark et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome

(2009) Edith M. Jolin et al.   JOURNAL OF AFFECTIVE DISORDERS

Psychiatric Disorders and Intellectual Functioning Throughout Development in Velocardiofacial (22q11.2 Deletion) Syndrome

(2009) Tamar Green et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

A genome-wide linkage and association scan reveals novel loci for autism

(2009) Lauren A. Weiss et al.   NATURE

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

Association of Syndromic Mental Retardation and Autism with 22q11.2 Duplication

(2009) A. Lo-Castro et al.   NEUROPEDIATRICS

Meta-analysis of association between genetic variants in COMT and schizophrenia: An update

(2009) Tomo Okochi et al.   SCHIZOPHRENIA RESEARCH

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?—Report of two families

(2008) Winnie Courtens et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Distal 22q11.2 microduplication encompassing theBCRgene

(2008) Maria Descartes et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel Submicroscopic Chromosomal Abnormalities Detected in Autism Spectrum Disorder

(2008) Susan L. Christian et al.   BIOLOGICAL PSYCHIATRY

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: Efficient identification of known microduplications and identification of a novel microduplication in ASMT

(2008) Guiqing Cai et al.   BMC Medical Genomics

Clinical variability of the 22q11.2 duplication syndrome

(2008) Christian Wentzel et al.   European Journal of Medical Genetics

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes

(2008) Zhishuo Ou et al.   GENETICS IN MEDICINE

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   HUMAN MOLECULAR GENETICS

Genetic Dissection of the Role of Catechol-O-Methyltransferase in Cognition and Stress Reactivity in Mice

(2008) F. Papaleo et al.   JOURNAL OF NEUROSCIENCE

Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth

(2008) S. Budel et al.   JOURNAL OF NEUROSCIENCE

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

(2008) Kimberly L Stark et al.   NATURE GENETICS

Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database

(2008) Nicole C Allen et al.   NATURE GENETICS

Phenotypic characterization of cognition and social behavior in mice with heterozygous versus homozygous deletion of catechol-O-methyltransferase

(2008) D. Babovic et al.   NEUROSCIENCE

Supportive Evidence for Reduced Expression of GNB1L in Schizophrenia

(2008) Hiroki Ishiguro et al.   SCHIZOPHRENIA BULLETIN

Schizophrenia and 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   Current Psychiatry Reports

Functional Polymorphisms in PRODH Are Associated with Risk and Protection for Schizophrenia and Fronto-Striatal Structure and Function

(2008) Lucas Kempf et al.   PLoS Genetics