The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants

Five Years of GWAS Discovery

(2012) Peter M. Visscher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Estimating the proportion of variation in susceptibility to schizophrenia captured by common SNPs

(2012) S Hong Lee et al.   NATURE GENETICS

Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes

(2012) Amélie Bonnefond et al.   NATURE GENETICS

Abundant Pleiotropy in Human Complex Diseases and Traits

(2011) Shanya Sivakumaran et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Estimating Missing Heritability for Disease from Genome-wide Association Studies

(2011) Sang Hong Lee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness

(2011) Andrés Ingason et al.   AMERICAN JOURNAL OF PSYCHIATRY

Association of Schizophrenia in 22q11.2 Deletion Syndrome and Gray Matter Volumetric Deficits in the Superior Temporal Gyrus

(2011) Eva W.C. Chow et al.   AMERICAN JOURNAL OF PSYCHIATRY

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

Positive allosteric modulators as an approach to nicotinic acetylcholine receptor-targeted therapeutics: Advantages and limitations

(2011) Dustin K. Williams et al.   BIOCHEMICAL PHARMACOLOGY

Copy Number Variants for Schizophrenia and Related Psychotic Disorders in Oceanic Palau: Risk and Transmission in Extended Pedigrees

(2011) Nadine Melhem et al.   BIOLOGICAL PSYCHIATRY

De Novo Rates and Selection of Schizophrenia-Associated Copy Number Variants

(2011) Elliott Rees et al.   BIOLOGICAL PSYCHIATRY

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons

(2011) Ricardo Dolmetsch et al.   CELL

Pharmacogenetics of Response to Antipsychotics in Patients with Schizophrenia

(2011) Maria J. Arranz et al.   CNS DRUGS

From genes to therapeutic targets for psychiatric disorders – what to expect?

(2011) Pierandrea Muglia   CURRENT OPINION IN PHARMACOLOGY

The causality of de novo copy number variants is overestimated

(2011) Joris R Vermeesch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cost of disorders of the brain in Europe 2010

(2011) Anders Gustavsson et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder

(2011) Emma L. Dempster et al.   HUMAN MOLECULAR GENETICS

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

(2011) Stacy Steinberg et al.   HUMAN MOLECULAR GENETICS

Development of Patient-Specific Neurons in Schizophrenia Using Induced Pluripotent Stem Cells

(2011) Erika Pedrosa et al.   JOURNAL OF NEUROGENETICS

A family-based study of common polygenic variation and risk of schizophrenia

(2011) D M Ruderfer et al.   MOLECULAR PSYCHIATRY

Don't give up on GWAS

(2011) P Sullivan et al.   MOLECULAR PSYCHIATRY

Schizophrenia susceptibility alleles are enriched for alleles that affect gene expression in adult human brain

(2011) A L Richards et al.   MOLECULAR PSYCHIATRY

Integration-free induced pluripotent stem cells derived from schizophrenia patients with a DISC1 mutation

(2011) C-H Chiang et al.   MOLECULAR PSYCHIATRY

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

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

Novartis to shut brain research facility

(2011) Alison Abbott   NATURE

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Temporal dynamics and genetic control of transcription in the human prefrontal cortex

(2011) Carlo Colantuoni et al.   NATURE

DISC1-dependent switch from progenitor proliferation to migration in the developing cortex

(2011) Koko Ishizuka et al.   NATURE

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

(2011) Satoru Yokoyama et al.   NATURE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

(2011) Vladimir Vacic et al.   NATURE

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

A decade’s perspective on DNA sequencing technology

(2011) Elaine R. Mardis   NATURE

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Harnessing the potential of induced pluripotent stem cells for regenerative medicine

(2011) Sean M. Wu et al.   NATURE CELL BIOLOGY

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease

(2011) Gosia Trynka et al.   NATURE GENETICS

Genome-wide association study identifies a susceptibility locus for schizophrenia in Han Chinese at 11p11.2

(2011) Wei-Hua Yue et al.   NATURE GENETICS

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

(2011) Yongyong Shi et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

Identification of low-frequency variants associated with gout and serum uric acid levels

(2011) Patrick Sulem et al.   NATURE GENETICS

Genome-wide association study identifies five new schizophrenia loci

(2011)   NATURE GENETICS

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

(2011)   NATURE GENETICS

Diagnosis in a dish: your skin can help your brain

(2011) Anita Huttner et al.   NATURE MEDICINE

Unfolding neurodevelopmental disorders: The mystery of developing connections

(2011) Jeffrey L Neul   NATURE MEDICINE

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

(2011) Gregory M. Cooper et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia

(2011) Dheeraj Malhotra et al.   NEURON

The Effects of CACNA1C Gene Polymorphism on Spatial Working Memory in Both Healthy Controls and Patients with Schizophrenia or Bipolar Disorder

(2011) Qiumei Zhang et al.   NEUROPSYCHOPHARMACOLOGY

Clustered Coding Variants in the Glutamate Receptor Complexes of Individuals with Schizophrenia and Bipolar Disorder

(2011) René A. W. Frank et al.   PLoS One

Multiple genes in the 15q13-q14 chromosomal region are associated with schizophrenia

(2011) Sarah H. Stephens et al.   PSYCHIATRIC GENETICS

Schizophrenia Genetics: Where Next?

(2011) Y. Kim et al.   SCHIZOPHRENIA BULLETIN

Therapeutic Antibodies for Brain Disorders

(2011) S. M. Paul   Science Translational Medicine

Concise Review: The Promise of Human Induced Pluripotent Stem Cell-Based Studies of Schizophrenia

(2011) Kristen J. Brennand et al.   STEM CELLS

Genome-wide association studies and systems biology: together at last

(2011) Mika Ala-Korpela et al.   TRENDS IN GENETICS

Promise and pitfalls of the Immunochip

(2011) Adrian Cortes et al.   ARTHRITIS RESEARCH & THERAPY

Synthetic Associations Created by Rare Variants Do Not Explain Most GWAS Results

(2011) Naomi R. Wray et al.   PLOS BIOLOGY

Synthetic Associations Are Unlikely to Account for Many Common Disease Genome-Wide Association Signals

(2011) Carl A. Anderson et al.   PLOS BIOLOGY

Next-generation human genetics

(2011) Jay Shendure   GENOME BIOLOGY

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

(2010) Philip Awadalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Microdeletions of 3q29 Confer High Risk for Schizophrenia

(2010) Jennifer Gladys Mulle 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

Severe Mental Disorders in Offspring With 2 Psychiatrically Ill Parents

(2010) Irving I. Gottesman et al.   ARCHIVES OF GENERAL PSYCHIATRY

Brain Function in Carriers of a Genome-wide Supported Bipolar Disorder Variant

(2010) Susanne Erk et al.   ARCHIVES OF GENERAL PSYCHIATRY

De Novo Truncating Mutation in Kinesin 17 Associated with Schizophrenia

(2010) Julien Tarabeux et al.   BIOLOGICAL PSYCHIATRY

Psychiatric Brain Banking: Three Perspectives on Current Trends and Future Directions

(2010) Amy Deep-Soboslay et al.   BIOLOGICAL PSYCHIATRY

Genome-Wide Association Study of Schizophrenia in a Japanese Population

(2010) Masashi Ikeda et al.   BIOLOGICAL PSYCHIATRY

Effects of an Alpha 7-Nicotinic Agonist on Default Network Activity in Schizophrenia

(2010) Jason R. Tregellas et al.   BIOLOGICAL PSYCHIATRY

Next generation sequencing in functional genomics

(2010) T. Werner   BRIEFINGS IN BIOINFORMATICS

Analyze multivariate phenotypes in genetic association studies by combining univariate association tests

(2010) Qiong Yang et al.   GENETIC EPIDEMIOLOGY

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries

(2010) H. J. Williams et al.   HUMAN MOLECULAR GENETICS

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder

(2010) H J Williams et al.   MOLECULAR PSYCHIATRY

Big ideas for small brains: what can psychiatry learn from worms, flies, bees and fish?

(2010) T Burne et al.   MOLECULAR PSYCHIATRY

Molecular pathways involved in neuronal cell adhesion and membrane scaffolding contribute to schizophrenia and bipolar disorder susceptibility

(2010) C O'Dushlaine et al.   MOLECULAR PSYCHIATRY

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

(2010) A M Addington et al.   MOLECULAR PSYCHIATRY

From maps to mechanisms through neuroimaging of schizophrenia

(2010) Andreas Meyer-Lindenberg   NATURE

Rethinking schizophrenia

(2010) Thomas R. Insel   NATURE

The environment and schizophrenia

(2010) Jim van Os et al.   NATURE

Hundreds of variants clustered in genomic loci and biological pathways affect human height

(2010) Hana Lango Allen et al.   NATURE

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Common SNPs explain a large proportion of the heritability for human height

(2010) Jian Yang et al.   NATURE GENETICS

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

(2010) Benjamin F Voight et al.   NATURE GENETICS

RNA sequencing: advances, challenges and opportunities

(2010) Fatih Ozsolak et al.   NATURE REVIEWS GENETICS

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

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

Cognitive state and connectivity effects of the genome-wide significant psychosis variant in ZNF804A

(2010) Christine Esslinger et al.   NEUROIMAGE

A Schizophrenia Risk Gene, ZNF804A, Influences Neuroanatomical and Neurocognitive Phenotypes

(2010) Todd Lencz et al.   NEUROPSYCHOPHARMACOLOGY

New Copy Number Variations in Schizophrenia

(2010) Chiara Magri et al.   PLoS One

Strong synaptic transmission impact by copy number variations in schizophrenia

(2010) J. T. Glessner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies

(2010) A. Eyre-Walker   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

(2010) Julie Gauthier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Early developmental milestones and risk of schizophrenia: A 45-year follow-up of the Copenhagen Perinatal Cohort

(2010) Holger J. Sørensen et al.   SCHIZOPHRENIA RESEARCH

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

MicroRNA miR-137 Regulates Neuronal Maturation by Targeting Ubiquitin Ligase Mind Bomb-1

(2010) Richard D. Smrt et al.   STEM CELLS

Rare Variants Create Synthetic Genome-Wide Associations

(2010) Samuel P. Dickson et al.   PLOS BIOLOGY

Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function

(2010) Soumya Raychaudhuri et al.   PLoS Genetics

The Genetic Interpretation of Area under the ROC Curve in Genomic Profiling

(2010) Naomi R. Wray et al.   PLoS Genetics

A Cytogenetic Abnormality and Rare Coding Variants Identify ABCA13 as a Candidate Gene in Schizophrenia, Bipolar Disorder, and Depression

(2009) Helen M. Knight et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy Number Variation in Schizophrenia in the Japanese Population

(2009) Masashi Ikeda et al.   BIOLOGICAL PSYCHIATRY

An evaluation of statistical approaches to rare variant analysis in genetic association studies

(2009) Andrew P. Morris et al.   GENETIC EPIDEMIOLOGY

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

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

(2009) B. A. Fernandez et al.   JOURNAL OF MEDICAL GENETICS

Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study

(2009) Paul Lichtenstein et al.   LANCET

Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha

(2009) L S Carroll et al.   MOLECULAR PSYCHIATRY

Genomewide linkage scan of schizophrenia in a large multicenter pedigree sample using single nucleotide polymorphisms

(2009) P A Holmans et al.   MOLECULAR PSYCHIATRY

Copy number variations of chromosome 16p13.1 region associated with schizophrenia

(2009) A Ingason et al.   MOLECULAR PSYCHIATRY

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

(2009) Joseph T. Glessner et al.   NATURE

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Evolution of the neocortex: a perspective from developmental biology

(2009) Pasko Rakic   NATURE REVIEWS NEUROSCIENCE

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

(2009) L. A. Hindorff et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Psychosis Genetics: Modeling the Relationship Between Schizophrenia, Bipolar Disorder, and Mixed (or "Schizoaffective") Psychoses

(2009) N. Craddock et al.   SCHIZOPHRENIA BULLETIN

Neurexin 1 (NRXN1) Deletions in Schizophrenia

(2009) G. Kirov et al.   SCHIZOPHRENIA BULLETIN

Neural Mechanisms of a Genome-Wide Supported Psychosis Variant

(2009) C. Esslinger et al.   SCIENCE

Suicide rate in schizophrenia in the Northern Finland 1966 Birth Cohort

(2009) Antti Alaräisänen et al.   SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY

Discovery of Rare Variants via Sequencing: Implications for the Design of Complex Trait Association Studies

(2009) Bingshan Li et al.   PLoS Genetics

A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia

(2009) Anna C. Need et al.   PLoS Genetics

No Significant Association of 14 Candidate Genes With Schizophrenia in a Large European Ancestry Sample: Implications for Psychiatric Genetics

(2008) Alan R. Sanders et al.   AMERICAN JOURNAL OF PSYCHIATRY

Initial Phase 2 Trial of a Nicotinic Agonist in Schizophrenia

(2008) Robert Freedman et al.   AMERICAN JOURNAL OF PSYCHIATRY

Premorbid IQ in Schizophrenia: A Meta-Analytic Review

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

Strong Evidence for a Novel Schizophrenia Risk Locus on Chromosome 1p31.1 in Homogeneous Pedigrees From Tamil Nadu, India

(2008) Elizabeth G. Holliday et al.   AMERICAN JOURNAL OF PSYCHIATRY

Back to the Future

(2008) Patrick D. McGorry et al.   ARCHIVES OF GENERAL PSYCHIATRY

miR-124 and miR-137 inhibit proliferation of glioblastoma multiforme cells and induce differentiation of brain tumor stem cells

(2008) Joachim Silber et al.   BMC Medicine

Prediction of individual genetic risk of complex disease

(2008) Naomi R Wray et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

A genome-wide association study in 574 schizophrenia trios using DNA pooling

(2008) G Kirov et al.   MOLECULAR PSYCHIATRY

Meta-analysis of 32 genome-wide linkage studies of schizophrenia

(2008) M Y M Ng et al.   MOLECULAR PSYCHIATRY

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

(2008) V Moskvina et al.   MOLECULAR PSYCHIATRY

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

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS

Identification of loci associated with schizophrenia by genome-wide association and follow-up

(2008) Michael C O'Donovan et al.   NATURE GENETICS

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

(2008) Kimberly L Stark et al.   NATURE GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer 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

The adult human brain in preclinical drug development

(2008) Mike Dragunow   NATURE REVIEWS DRUG DISCOVERY

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

(2008) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Case for Autoimmunity in the Etiology of Schizophrenia

(2008) Carroll-Ann W Goldsmith et al.   PHARMACOTHERAPY

Genomic Convergence Analysis of Schizophrenia: mRNA Sequencing Reveals Altered Synaptic Vesicular Transport in Post-Mortem Cerebellum

(2008) Joann Mudge et al.   PLoS One

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE

Heritability of Brain Morphology Related to Schizophrenia: A Large-Scale Automated Magnetic Resonance Imaging Segmentation Study

(2007) Aaron L. Goldman et al.   BIOLOGICAL PSYCHIATRY