Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

(2016) Megan R. Glassford et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Comprehensive Versus Usual Community Care for First-Episode Psychosis: 2-Year Outcomes From the NIMH RAISE Early Treatment Program

(2016) John M. Kane et al.   AMERICAN JOURNAL OF PSYCHIATRY

The complex behavioral phenotype of 15q13.3 microdeletion syndrome

(2016) Mark N. Ziats et al.   GENETICS IN MEDICINE

Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder

(2016) Rhian L. Clissold et al.   KIDNEY INTERNATIONAL

High-fidelity CRISPR–Cas9 nucleases with no detectable genome-wide off-target effects

(2016) Benjamin P. Kleinstiver et al.   NATURE

Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR

(2016) Derek J C Tai et al.   NATURE NEUROSCIENCE

Altering the course of schizophrenia: progress and perspectives

(2016) Mark J. Millan et al.   NATURE REVIEWS DRUG DISCOVERY

Defining and improving the genome-wide specificities of CRISPR–Cas9 nucleases

(2016) Shengdar Q. Tsai et al.   NATURE REVIEWS GENETICS

Age-Dependent Specific Changes in Area CA2 of the Hippocampus and Social Memory Deficit in a Mouse Model of the 22q11.2 Deletion Syndrome

(2016) Rebecca A. Piskorowski et al.   NEURON

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

(2016) Thomas Arbogast et al.   PLoS Genetics

A clinical case report and literature review of the 3q29 microdeletion syndrome

(2015) Devin M. Cox et al.   CLINICAL DYSMORPHOLOGY

Common Mechanisms of Excitatory and Inhibitory Imbalance in Schizophrenia and Autism Spectrum Disorders

(2015) R. Gao et al.   CURRENT MOLECULAR MEDICINE

New discoveries in schizophrenia genetics reveal neurobiological pathways: A review of recent findings

(2015) Alex V. Kotlar et al.   European Journal of Medical Genetics

The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review

(2015) Devin Cox et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications

(2015) Fátima Torres et al.   JOURNAL OF MEDICAL GENETICS

The 3q29 deletion confers >40-fold increase in risk for schizophrenia

(2015) J G Mulle   MOLECULAR PSYCHIATRY

Evaluating historical candidate genes for schizophrenia

(2015) M S Farrell et al.   MOLECULAR PSYCHIATRY

Copy number variation in bipolar disorder

(2015) E K Green et al.   MOLECULAR PSYCHIATRY

Using iPSCs and genomics to catch CNVs in the act

(2015) Alexander Eckehart Urban et al.   NATURE GENETICS

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

The association between autism and schizophrenia spectrum disorders: A review of eight alternate models of co-occurrence

(2015) Katharine Chisholm et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

The NEWMEDS rodent touchscreen test battery for cognition relevant to schizophrenia

(2015) M. Hvoslef-Eide et al.   PSYCHOPHARMACOLOGY

Rationally engineered Cas9 nucleases with improved specificity

(2015) I. M. Slaymaker et al.   SCIENCE

Dopamine in socioecological and evolutionary perspectives: implications for psychiatric disorders

(2015) Yoshie Yamaguchi et al.   Frontiers in Neuroscience

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

(2014) Ian Blumenthal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Endonucleases: new tools to edit the mouse genome

(2014) Tobias Wijshake et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

(2014) Pietro Palumbo et al.   GENE

A Mouse Geneticist's Practical Guide to CRISPR Applications

(2014) P. Singh et al.   GENETICS

Megabase-scale deletion using CRISPR/Cas9 to generate a fully haploid human cell line

(2014) Patrick Essletzbichler et al.   GENOME RESEARCH

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience

(2014) Marco Luigetti et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

(2014) A M Maillard et al.   MOLECULAR PSYCHIATRY

Copy number variation in schizophrenia in Sweden

(2014) J P Szatkiewicz et al.   MOLECULAR PSYCHIATRY

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Synaptic dysregulation in a human iPS cell model of mental disorders

(2014) Zhexing Wen et al.   NATURE

In vivo engineering of oncogenic chromosomal rearrangements with the CRISPR/Cas9 system

(2014) Danilo Maddalo et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

CRISPR-Cas systems for editing, regulating and targeting genomes

(2014) Jeffry D Sander et al.   NATURE BIOTECHNOLOGY

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

(2014) Antonio Adamo et al.   NATURE GENETICS

Identification of Rare, Single-Nucleotide Mutations in NDE1 and Their Contributions to Schizophrenia Susceptibility

(2014) Hiroki Kimura et al.   SCHIZOPHRENIA BULLETIN

Population impact of familial and environmental risk factors for schizophrenia: A nationwide study

(2014) Holger J. Sørensen et al.   SCHIZOPHRENIA RESEARCH

Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome

(2014) Stephen Monks et al.   SCHIZOPHRENIA RESEARCH

Engineering human tumour-associated chromosomal translocations with the RNA-guided CRISPR–Cas9 system

(2014) R. Torres et al.   Nature Communications

Genetics of Schizophrenia

(2014) Irene Escudero et al.   Current Psychiatry Reports

A common cognitive, psychiatric, and dysmorphic phenotype in carriers ofNRXN1deletion

(2014) Marina Viñas-Jornet et al.   Molecular Genetics & Genomic Medicine

Co-occurrence of autism, childhood psychosis, and intellectual disability associated with a de novo 3q29 microdeletion

(2013) Angela Sagar et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Treating Working Memory Deficits in Schizophrenia: A Review of the Neurobiology

(2013) Tristram A. Lett et al.   BIOLOGICAL PSYCHIATRY

Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

(2013) Jennifer Gladys Mulle et al.   BIOLOGICAL PSYCHIATRY

Analysis of copy number variations at 15 schizophrenia-associated loci

(2013) Elliott Rees et al.   BRITISH JOURNAL OF PSYCHIATRY

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Neurological features and long-term follow-up in 15q11.2-13.1 duplication

(2013) Antonietta Coppola et al.   European Journal of Medical Genetics

The Association Between Autism Spectrum Disorder and Psychotic Experiences in the Avon Longitudinal Study of Parents and Children (ALSPAC) Birth Cohort

(2013) Sarah Sullivan et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Comparative efficacy and tolerability of 15 antipsychotic drugs in schizophrenia: a multiple-treatments meta-analysis

(2013) Stefan Leucht et al.   LANCET

Evidence that duplications of 22q11.2 protect against schizophrenia

(2013) E Rees et al.   MOLECULAR PSYCHIATRY

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

(2013) Stephan Ripke et al.   NATURE GENETICS

Chromosomal deletions and inversions mediated by TALENs and CRISPR/Cas in zebrafish

(2013) An Xiao et al.   NUCLEIC ACIDS RESEARCH

Emerging Role of the Scaffolding Protein Dlg1 in Vesicle Trafficking

(2013) Laurence Walch   TRAFFIC

MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review

(2013) Andreas J. Forstner et al.   Frontiers in Molecular Neuroscience

Further evidence for a male-selective genetic association of synapse-associated protein 97 (SAP97) gene with schizophrenia

(2012) Akihito Uezato et al.   Behavioral and Brain Functions

Schizophrenia genetics: progress, at last

(2012) Jennifer Gladys Mulle   CURRENT OPINION IN GENETICS & DEVELOPMENT

Association testing of copy number variants in schizophrenia and autism spectrum disorders

(2012) Bernard J Crespi et al.   Journal of Neurodevelopmental Disorders

Pharmacological treatment of schizophrenia: a critical review of the pharmacology and clinical effects of current and future therapeutic agents

(2012) S Miyamoto et al.   MOLECULAR PSYCHIATRY

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex

(2012) Froylan Calderon de Anda et al.   NATURE NEUROSCIENCE

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

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

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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

The 3q29 microdeletion syndrome: Report of three new unrelated patients and in silico “RNA binding” analysis of the 3q29 region

(2011) Majed J. Dasouki et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy

(2011) Larissa R Stewart et al.   BMC Medical Genetics

Targeting cognitive deficits in schizophrenia: a review of the development of a new class of medicines from the perspective of community mental health researchers

(2011) Oleg V Tcheremissine et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Targeted chromosomal duplications and inversions in the human genome using zinc finger nucleases

(2011) H. J. Lee et al.   GENOME RESEARCH

Genetic analysis of Down syndrome-associated heart defects in mice

(2011) Chunhong Liu et al.   HUMAN GENETICS

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders

(2011) Arivudainambi Ramalingam et al.   JOURNAL OF HUMAN GENETICS

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

High-frequency genome editing using ssDNA oligonucleotides with zinc-finger nucleases

(2011) Fuqiang Chen et al.   NATURE METHODS

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

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia

(2011) Detelina Grozeva et al.   SCHIZOPHRENIA RESEARCH

Recurrent Chromosome 16p13.1 Duplications Are a Risk Factor for Aortic Dissections

(2011) Shao-Qing Kuang et al.   PLoS Genetics

Microdeletions of 3q29 Confer High Risk for Schizophrenia

(2010) Jennifer Gladys Mulle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: Case report and review

(2010) Fabiola Quintero-Rivera et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Increased Synaptic Dopamine Function in Associative Regions of the Striatum in Schizophrenia

(2010) Lawrence S. Kegeles et al.   ARCHIVES OF GENERAL PSYCHIATRY

Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder

(2010) Jill Clayton-Smith et al.   CLINICAL DYSMORPHOLOGY

1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

(2010) William Cobb et al.   European Journal of Medical Genetics

The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders

(2010) Liam J. Drew et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice

(2010) Tao Yu et al.   MAMMALIAN GENOME

Understanding variable expressivity in microdeletion syndromes

(2010) Joris A Veltman et al.   NATURE GENETICS

Animal models of neuropsychiatric disorders

(2010) Eric J Nestler et al.   NATURE NEUROSCIENCE

Overlap of autistic and schizotypal traits in adolescents with Autism Spectrum Disorders

(2010) Petra S. Barneveld et al.   SCHIZOPHRENIA RESEARCH

Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease

(2009) Andy Itsara et al.   AMERICAN JOURNAL OF HUMAN GENETICS

3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs

(2009) Maria Cristina Digilio et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Cognitive Effects of Second-Generation Antipsychotics

(2009) Fabio Fumagalli et al.   CNS DRUGS

Effect of second-generation antipsychotics on cognition: current issues and future challenges

(2009) S Kristian Hill et al.   Expert Review of Neurotherapeutics

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

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Postnatal NMDA receptor ablation in corticolimbic interneurons confers schizophrenia-like phenotypes

(2009) Juan E Belforte et al.   NATURE NEUROSCIENCE

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Disturbed prepulse inhibition in patients with schizophrenia is consequential to dysfunction of selective attention

(2009) Kirsty E. Scholes et al.   PSYCHOPHYSIOLOGY

Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study

(2008) Vera A. Morgan et al.   BRITISH JOURNAL OF PSYCHIATRY

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT

Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome

(2008) Sarah E. Prasad et al.   Developmental Disabilities Research Reviews

Schizophrenia: A Concise Overview of Incidence, Prevalence, and Mortality

(2008) J. McGrath et al.   EPIDEMIOLOGIC REVIEWS

Genomewide association for schizophrenia in the CATIE study: results of stage 1

(2008) P F Sullivan et al.   MOLECULAR PSYCHIATRY

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

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Negative symptoms in schizophrenia—A review

(2008) J Mäkinen et al.   NORDIC JOURNAL OF PSYCHIATRY

Mouse Phenome Database

(2008) S. C. Grubb et al.   NUCLEIC ACIDS RESEARCH

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Schizophrenia and 22q11.2 deletion syndrome

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