Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models

PDD-NOS, psychotic features and executive function deficits in a boy with proximal 22q11.2 microduplication: Evolution of the psychiatric symptom profile from childhood to adolescence

(2018) L. Woestelandt et al.   European Journal of Medical Genetics

Cry, Baby, Cry: Expression of Distress As a Biomarker and Modulator in Autism Spectrum Disorder

(2017) Gianluca Esposito et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Persistent gating deficit and increased sensitivity to NMDA receptor antagonism after puberty in a new mouse model of the human 22q11.2 microdeletion syndrome: a study in male mice

(2017) Michael Didriksen et al.   JOURNAL OF PSYCHIATRY & NEUROSCIENCE

The translationally relevant mouse model of the 15q13.3 microdeletion syndrome reveals deficits in neuronal spike firing matching clinical neurophysiological biomarkers seen in schizophrenia

(2016) J. Thelin et al.   Acta Physiologica

Stability of the acoustic startle response and its modulation in children with typical development and those with autism spectrum disorders: A one-year follow-up

(2016) Hidetoshi Takahashi et al.   Autism Research

Assessing the Cognitive Translational Potential of a Mouse Model of the 22q11.2 Microdeletion Syndrome

(2016) Simon RO. Nilsson et al.   CEREBRAL CORTEX

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

(2016) Stephen J Mosca et al.   JOURNAL OF MEDICAL GENETICS

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

(2016) Christian R Marshall et al.   NATURE GENETICS

Thalamic miR-338-3p mediates auditory thalamocortical disruption and its late onset in models of 22q11.2 microdeletion

(2016) Sungkun Chun et al.   NATURE MEDICINE

Genetic Background Limits Generalizability of Genotype-Phenotype Relationships

(2016) Laura J. Sittig et al.   NEURON

A Self-Generated Environmental Factor as a Potential Contributor to Atypical Early Social Communication in Autism

(2016) Takefumi Kikusui et al.   NEUROPSYCHOPHARMACOLOGY

Psychotic disorder associated with 22q11.2 duplication syndrome

(2016) Therese van Amelsvoort et al.   PSYCHIATRY RESEARCH

A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment

(2016) Simon R. O. Nilsson et al.   PSYCHOPHARMACOLOGY

Cytosolic Accumulation of L-Proline Disrupts GABA-Ergic Transmission through GAD Blockade

(2016) Gregg W. Crabtree et al.   Cell Reports

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes

(2016) Thomas Arbogast et al.   PLoS Genetics

15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes

(2016) A Forsingdal et al.   Translational Psychiatry

Analysis of induced pluripotent stem cells carrying 22q11.2 deletion

(2016) M Toyoshima et al.   Translational Psychiatry

Co-regulation of mitochondrial respiration by proline dehydrogenase/oxidase and succinate

(2015) Chad N. Hancock et al.   AMINO ACIDS

Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model

(2015) Jacob Ellegood et al.   Autism Research

Genetic Epidemiology and Insights into Interactive Genetic and Environmental Effects in Autism Spectrum Disorders

(2015) Young Shin Kim et al.   BIOLOGICAL PSYCHIATRY

Developmental trajectory of cognitive impairment in bipolar disorder: Comparison with schizophrenia

(2015) Emre Bora   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms

(2015) Alina Guna et al.   Journal of Neurodevelopmental Disorders

Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder

(2015) J. H. Kogan et al.   JOURNAL OF NEUROSCIENCE

Structure and function of neonatal social communication in a genetic mouse model of autism

(2015) T Takahashi et al.   MOLECULAR PSYCHIATRY

Social cognition in schizophrenia

(2015) Michael F. Green et al.   NATURE REVIEWS NEUROSCIENCE

In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages

(2015) Mu Yang et al.   PHYSIOLOGY & BEHAVIOR

White matter microstructural abnormalities of the cingulum bundle in youths with 22q11.2 deletion syndrome: Associations with medication, neuropsychological function, and prodromal symptoms of psychosis

(2015) Wendy R. Kates et al.   SCHIZOPHRENIA RESEARCH

Cognitive Decline Preceding the Onset of Psychosis in Patients With 22q11.2 Deletion Syndrome

(2015) Jacob A. S. Vorstman et al.   JAMA Psychiatry

Cognitive deficits in youth with familial and clinical high risk to psychosis: a systematic review and meta-analysis

(2014) E. Bora et al.   ACTA PSYCHIATRICA SCANDINAVICA

Absence of strong strain effects in behavioral analyses of Shank3-deficient mice

(2014) E. Drapeau et al.   Disease Models & Mechanisms

Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder

(2014) Maria Segura-Puimedon et al.   HUMAN MOLECULAR GENETICS

Hippocampal Abnormalities in Magnetic Resonance Imaging (MRI) of 15q Duplication Syndromes

(2014) Susana Boronat et al.   JOURNAL OF CHILD NEUROLOGY

The Broader Autism Phenotype in Infancy: When Does It Emerge?

(2014) Sally Ozonoff et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities

(2014) R E Gur et al.   MOLECULAR PSYCHIATRY

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Prepulse Inhibition of the Acoustic Startle Reflex in High Functioning Autism

(2014) Sina Kohl et al.   PLoS One

Specific disruption of thalamic inputs to the auditory cortex in schizophrenia models

(2014) S. Chun et al.   SCIENCE

Enhanced synapse remodelling as a common phenotype in mouse models of autism

(2014) Masaaki Isshiki et al.   Nature Communications

Neurocognitive Growth Charting in Psychosis Spectrum Youths

(2014) Ruben C. Gur et al.   JAMA Psychiatry

Neuropsychological Decline in Schizophrenia From the Premorbid to the Postonset Period: Evidence From a Population-Representative Longitudinal Study

(2013) Madeline H. Meier et al.   AMERICAN JOURNAL OF PSYCHIATRY

Increased Prepulse Inhibition and Sensitization of the Startle Reflex in Autistic Children

(2013) Gitte Falcher Madsen et al.   Autism Research

Early identification of autism spectrum disorders

(2013) Lonnie Zwaigenbaum et al.   BEHAVIOURAL BRAIN RESEARCH

Temporal and spectral differences in the ultrasonic vocalizations of fragile X knock out mice during postnatal development

(2013) Jonathan K.Y. Lai et al.   BEHAVIOURAL BRAIN RESEARCH

Decreased Spontaneous Attention to Social Scenes in 6-Month-Old Infants Later Diagnosed with Autism Spectrum Disorders

(2013) Katarzyna Chawarska et al.   BIOLOGICAL PSYCHIATRY

The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan

(2013) Rachel K. Jonas et al.   BIOLOGICAL PSYCHIATRY

A Mouse Model that Recapitulates Cardinal Features of the 15q13.3 Microdeletion Syndrome Including Schizophrenia- and Epilepsy-Related Alterations

(2013) Kim Fejgin et al.   BIOLOGICAL PSYCHIATRY

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

(2013) George Kirov et al.   BIOLOGICAL PSYCHIATRY

Cognitive Ability is Associated with Altered Medial Frontal Cortical Circuits in the LgDel Mouse Model of 22q11.2DS

(2013) D. W. Meechan et al.   CEREBRAL CORTEX

Annual Research Review: Towards a developmental neuroscience of atypical social cognition

(2013) Francesca Happé et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

The Pattern of Cortical Dysfunction in a Mouse Model of a Schizophrenia-Related Microdeletion

(2013) K. Fenelon et al.   JOURNAL OF NEUROSCIENCE

Reduced Adult Hippocampal Neurogenesis and Working Memory Deficits in the Dgcr8-Deficient Mouse Model of 22q11.2 Deletion-Associated Schizophrenia Can Be Rescued by IGF2

(2013) Y. Ouchi et al.   JOURNAL OF NEUROSCIENCE

Risk Factors and the Evolution of Psychosis in 22q11.2 Deletion Syndrome: A Longitudinal 2-Site Study

(2013) Doron Gothelf et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

(2013)   LANCET

Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion

(2013) J Ellegood et al.   MOLECULAR PSYCHIATRY

Epistatic interaction between COMT and DTNBP1 modulates prefrontal function in mice and in humans

(2013) F Papaleo et al.   MOLECULAR PSYCHIATRY

Evidence that duplications of 22q11.2 protect against schizophrenia

(2013) E Rees et al.   MOLECULAR PSYCHIATRY

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

(2013) N Hiroi et al.   MOLECULAR PSYCHIATRY

Reduced behavioral flexibility in autism spectrum disorders.

(2013) Anna-Maria D'Cruz et al.   NEUROPSYCHOLOGY

Impairments in real-world executive function increase from childhood to adolescence in autism spectrum disorders.

(2013) Michael Rosenthal et al.   NEUROPSYCHOLOGY

The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data

(2013) Gautier Koscielny et al.   NUCLEIC ACIDS RESEARCH

Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model

(2013) M. Toritsuka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The global cognitive impairment in schizophrenia: Consistent over decades and around the world

(2013) Jonathan Schaefer et al.   SCHIZOPHRENIA RESEARCH

C57BL/6N Mutation in Cytoplasmic FMRP interacting protein 2 Regulates Cocaine Response

(2013) V. Kumar et al.   SCIENCE

A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains

(2013) Michelle M Simon et al.   GENOME BIOLOGY

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

Enriched rearing improves behavioral responses of an animal model for CNV-based autistic-like traits

(2012) Melanie Lacaria 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

Differences Between the Pattern of Developmental Abnormalities in Autism Associated With Duplications 15q11.2-q13 and Idiopathic Autism

(2012) Jerzy Wegiel et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

(2012) Steve D. M. Brown et al.   MAMMALIAN GENOME

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8−21.

(2012) Ruben C. Gur et al.   NEUROPSYCHOLOGY

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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

Sensory and sensorimotor gating in children with multiple complex developmental disorders (MCDD) and autism

(2012) Bob Oranje et al.   PSYCHIATRY RESEARCH

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

(2012) Lambertus Klei et al.   Molecular Autism

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

Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic-like responses

(2011) Corinne M. Spencer et al.   Autism Research

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

Mouse strain differences in phencyclidine-induced behavioural changes

(2011) Akihiro Mouri et al.   INTERNATIONAL JOURNAL OF NEUROPSYCHOPHARMACOLOGY

Of mice and intrinsic excitability: genetic background affects the size of the postburst afterhyperpolarization in CA1 pyramidal neurons

(2011) Shannon J. Moore et al.   JOURNAL OF NEUROPHYSIOLOGY

Face identity recognition in autism spectrum disorders: A review of behavioral studies

(2011) Sarah Weigelt et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice

(2011) Jennifer O'Leary et al.   PLoS One

Research Domain Criteria (RDoC): Toward a New Classification Framework for Research on Mental Disorders

(2010) Thomas Insel et al.   AMERICAN JOURNAL OF PSYCHIATRY

Static and Dynamic Cognitive Deficits in Childhood Preceding Adult Schizophrenia: A 30-Year Study

(2010) Abraham Reichenberg et al.   AMERICAN JOURNAL OF PSYCHIATRY

Unusual repertoire of vocalizations in adult BTBR T+tf/J mice during three types of social encounters

(2010) M. L. Scattoni et al.   GENES BRAIN AND BEHAVIOR

Impaired hippocampal–prefrontal synchrony in a genetic mouse model of schizophrenia

(2010) Torfi Sigurdsson et al.   NATURE

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

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

The Prevention of Schizophrenia

(2010) A. S. Brown et al.   SCHIZOPHRENIA BULLETIN

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

(2010) Guénola Ricard et al.   PLOS BIOLOGY

Discrimination Learning, Reversal, and Set-Shifting in First-Episode Schizophrenia: Stability Over Six Years and Specific Associations with Medication Type and Disorganization Syndrome

(2009) Verity C. Leeson et al.   BIOLOGICAL PSYCHIATRY

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

(2009) Jin Nakatani et al.   CELL

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

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

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

Anatomical and Electrophysiological Comparison of CA1 Pyramidal Neurons of the Rat and Mouse

(2009) Brandy N. Routh et al.   JOURNAL OF NEUROPHYSIOLOGY

Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome)

(2009) Giles M. Tan et al.   SCHIZOPHRENIA RESEARCH

Mindblind Eyes: An Absence of Spontaneous Theory of Mind in Asperger Syndrome

(2009) A. Senju et al.   SCIENCE

Premorbid IQ in Schizophrenia: A Meta-Analytic Review

(2008) Kristen A. Woodberry et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genes, brain development and psychiatric phenotypes in velo-cardio-facial syndrome

(2008) Doron Gothelf et al.   Developmental Disabilities Research Reviews

Brain abnormalities in Williams syndrome: A review of structural and functional magnetic resonance imaging findings

(2008) Andrea Parolin Jackowski et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Dissociation of seizure traits in inbred strains of mice using the flurothyl kindling model of epileptogenesis

(2008) Dominick Papandrea et al.   EXPERIMENTAL NEUROLOGY

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

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

Cyclin-Dependent Kinase 5 Phosphorylation of Human Septin SEPT5 (hCDCrel-1) Modulates Exocytosis

(2008) N. D. Amin et al.   JOURNAL OF NEUROSCIENCE

Unusual Repertoire of Vocalizations in the BTBR T+tf/J Mouse Model of Autism

(2008) Maria Luisa Scattoni et al.   PLoS One

Reinforcement and Reversal Learning in First-Episode Psychosis

(2008) G. K. Murray et al.   SCHIZOPHRENIA BULLETIN