Path from schizophrenia genomics to biology: gene regulation and perturbation in neurons derived from induced pluripotent stem cells and genome editing

A Common Functional Regulatory Variant at a Type 2 Diabetes Locus Upregulates ARAP1 Expression in the Pancreatic Beta Cell

(2014) Jennifer R. Kulzer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An iCRISPR Platform for Rapid, Multiplexable, and Inducible Genome Editing in Human Pluripotent Stem Cells

(2014) Federico González et al.   Cell Stem Cell

Restless Legs Syndrome-associated intronic common variant in Meis1 alters enhancer function in the developing telencephalon

(2014) D. Spieler et al.   GENOME RESEARCH

MicroRNA-9 and MicroRNA-326 Regulate Human Dopamine D2 Receptor Expression, and the MicroRNA-mediated Expression Regulation Is Altered by a Genetic Variant

(2014) Sandra Shi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

A mesoscale connectome of the mouse brain

(2014) Seung Wook Oh 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

Functional annotation of noncoding sequence variants

(2014) Graham R S Ritchie et al.   NATURE METHODS

Defining functional DNA elements in the human genome

(2014) M. Kellis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Coronary Heart Disease-Associated Variation in TCF21 Disrupts a miR-224 Binding Site and miRNA-Mediated Regulation

(2014) Clint L. Miller et al.   PLoS Genetics

Enhancing Induced Pluripotent Stem Cell Models of Schizophrenia

(2014) Rebecca Wright et al.   JAMA Psychiatry

Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS

(2013) Xin He et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Approaches to Neural Circuits in the Mouse

(2013) Z. Josh Huang et al.   Annual Review of Neuroscience

Functional interpretation of non-coding sequence variation: Concepts and challenges

(2013) Dirk S. Paul et al.   BIOESSAYS

Modeling Heterogeneous Patients With a Clinical Diagnosis of Schizophrenia With Induced Pluripotent Stem Cells

(2013) Kristen J. Brennand et al.   BIOLOGICAL PSYCHIATRY

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

(2013) Haoyi Wang et al.   CELL

Derepression of a Neuronal Inhibitor due to miRNA Dysregulation in a Schizophrenia-Related Microdeletion

(2013) Bin Xu et al.   CELL

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

(2013) Suleyman Gulsuner et al.   CELL

Double Nicking by RNA-Guided CRISPR Cas9 for Enhanced Genome Editing Specificity

(2013) F. Ann Ran et al.   CELL

Modeling Human Disease with Pluripotent Stem Cells: from Genome Association to Function

(2013) Florian T. Merkle et al.   Cell Stem Cell

Functional Maturation of hPSC-Derived Forebrain Interneurons Requires an Extended Timeline and Mimics Human Neural Development

(2013) Cory R. Nicholas et al.   Cell Stem Cell

Widespread and extensive lengthening of 3' UTRs in the mammalian brain

(2013) P. Miura et al.   GENOME RESEARCH

Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits

(2013) O. Corradin et al.   GENOME RESEARCH

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

(2013) A. C. Nica et al.   GENOME RESEARCH

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

(2013) Yanfang Fu et al.   NATURE BIOTECHNOLOGY

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

(2013) Stephan Ripke et al.   NATURE GENETICS

Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position

(2013) Jason D Buenrostro et al.   NATURE METHODS

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

From genetic variation to phenotype via chromatin

(2013) Hannah Stower   NATURE REVIEWS GENETICS

Dynamic regulation of transcriptional states by chromatin and transcription factors

(2013) Ty C. Voss et al.   NATURE REVIEWS GENETICS

Systems genetics approaches to understand complex traits

(2013) Mete Civelek et al.   NATURE REVIEWS GENETICS

The Central Dogma Decentralized: New Perspectives on RNA Function and Local Translation in Neurons

(2013) Christine E. Holt et al.   NEURON

Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells

(2013) Yingsha Zhang et al.   NEURON

Extensive Variation in Chromatin States Across Humans

(2013) M. Kasowski et al.   SCIENCE

Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

(2013) H. Kilpinen et al.   SCIENCE

Genetics Driving Epigenetics

(2013) T. S. Furey et al.   SCIENCE

An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level

(2013) D. E. Bauer et al.   SCIENCE

RNA-Guided Human Genome Engineering via Cas9

(2013) P. Mali et al.   SCIENCE

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

(2013) Ophir Shalem et al.   SCIENCE

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Oral Treatment Targeting the Unfolded Protein Response Prevents Neurodegeneration and Clinical Disease in Prion-Infected Mice

(2013) J. A. Moreno et al.   Science Translational Medicine

MicroRNAs tune cerebral cortical neurogenesis

(2012) M-L Volvert et al.   CELL DEATH AND DIFFERENTIATION

A TALEN Genome-Editing System for Generating Human Stem Cell-Based Disease Models

(2012) Qiurong Ding et al.   Cell Stem Cell

Drosophila miR-124 regulates neuroblast proliferation through its target anachronism

(2012) R. Weng et al.   DEVELOPMENT

Age-Dependent MicroRNA Control of Synaptic Plasticity in 22q11 Deletion Syndrome and Schizophrenia

(2012) L. R. Earls et al.   JOURNAL OF NEUROSCIENCE

Modeling psychiatric disorders at the cellular and network levels

(2012) K J Brennand et al.   MOLECULAR PSYCHIATRY

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Exaggerated translation causes synaptic and behavioural aberrations associated with autism

(2012) Emanuela Santini et al.   NATURE

In vivo genome editing using a high-efficiency TALEN system

(2012) Victoria M. Bedell et al.   NATURE

DNase I sensitivity QTLs are a major determinant of human expression variation

(2012) Jacob F. Degner et al.   NATURE

A map of the cis-regulatory sequences in the mouse genome

(2012) Yin Shen et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

The accessible chromatin landscape of the human genome

(2012) Robert E. Thurman et al.   NATURE

FLASH assembly of TALENs for high-throughput genome editing

(2012) Deepak Reyon et al.   NATURE BIOTECHNOLOGY

Systematic dissection and optimization of inducible enhancers in human cells using a massively parallel reporter assay

(2012) Alexandre Melnikov et al.   NATURE BIOTECHNOLOGY

A ligation-independent cloning technique for high-throughput assembly of transcription activator–like effector genes

(2012) Jonathan L Schmid-Burgk et al.   NATURE BIOTECHNOLOGY

Massively parallel functional dissection of mammalian enhancers in vivo

(2012) Rupali P Patwardhan et al.   NATURE BIOTECHNOLOGY

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

(2012) S Hong Lee et al.   NATURE GENETICS

Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses

(2012) Yichen Shi et al.   NATURE NEUROSCIENCE

A transcription activator-like effector toolbox for genome engineering

(2012) Neville E Sanjana et al.   Nature Protocols

Generation of induced pluripotent stem cells from a small amount of human peripheral blood using a combination of activated T cells and Sendai virus

(2012) Tomohisa Seki et al.   Nature Protocols

TALENs: a widely applicable technology for targeted genome editing

(2012) J. Keith Joung et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

MicroRNA-132 dysregulation in schizophrenia has implications for both neurodevelopment and adult brain function

(2012) B. H. Miller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

iPSC Disease Modeling

(2012) F. Soldner et al.   SCIENCE

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

MicroRNAs in neuronal function and dysfunction

(2012) Heh-In Im et al.   TRENDS IN NEUROSCIENCES

Neurophysiological Defects and Neuronal Gene Deregulation in Drosophila mir-124 Mutants

(2012) Kailiang Sun et al.   PLoS Genetics

Widespread Site-Dependent Buffering of Human Regulatory Polymorphism

(2012) Matthew T. Maurano et al.   PLoS 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

Generation of Isogenic Pluripotent Stem Cells Differing Exclusively at Two Early Onset Parkinson Point Mutations

(2011) Frank Soldner et al.   CELL

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

(2011) A L Richards et al.   MOLECULAR PSYCHIATRY

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

Somatic coding mutations in human induced pluripotent stem cells

(2011) Athurva Gore et al.   NATURE

Copy number variation and selection during reprogramming to pluripotency

(2011) Samer M. Hussein et al.   NATURE

Hotspots of aberrant epigenomic reprogramming in human induced pluripotent stem cells

(2011) Ryan Lister et al.   NATURE

Genetic engineering of human pluripotent cells using TALE nucleases

(2011) Dirk Hockemeyer et al.   NATURE BIOTECHNOLOGY

Genome-wide association study identifies five new schizophrenia loci

(2011)   NATURE GENETICS

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

A bioinformatic assay for pluripotency in human cells

(2011) Franz-Josef Müller et al.   NATURE METHODS

Dendritic spine pathology in neuropsychiatric disorders

(2011) Peter Penzes et al.   NATURE NEUROSCIENCE

Induced pluripotent stem cells: A new tool to confront the challenge of neuropsychiatric disorders

(2011) Flora M. Vaccarino et al.   NEUROPHARMACOLOGY

GABAergic interneuron origin of schizophrenia pathophysiology

(2011) Kazu Nakazawa et al.   NEUROPHARMACOLOGY

Dysbindin-1 mutant mice implicate reduced fast-phasic inhibition as a final common disease mechanism in schizophrenia

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

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

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

miR-137 forms a regulatory loop with nuclear receptor TLX and LSD1 in neural stem cells

(2011) GuoQiang Sun et al.   Nature Communications

A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

(2011) Rachel A. Myers et al.   PLoS Genetics

Copy Number Variations in Schizophrenia: Critical Review and New Perspectives on Concepts of Genetics and Disease

(2010) Anne S. Bassett et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genome-wide approaches to schizophrenia

(2010) Jubao Duan et al.   BRAIN RESEARCH BULLETIN

Structural abnormalities in gyri of the prefrontal cortex in individuals with schizophrenia and their unaffected siblings

(2010) Michael P. Harms et al.   BRITISH JOURNAL OF PSYCHIATRY

Cross talk between microRNA and epigenetic regulation in adult neurogenesis

(2010) Keith E. Szulwach et al.   JOURNAL OF CELL BIOLOGY

Dysregulation of Presynaptic Calcium and Synaptic Plasticity in a Mouse Model of 22q11 Deletion Syndrome

(2010) L. R. Earls et al.   JOURNAL OF NEUROSCIENCE

From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus

(2010) Kiran Musunuru et al.   NATURE

The NIH Roadmap Epigenomics Mapping Consortium

(2010) Bradley E Bernstein et al.   NATURE BIOTECHNOLOGY

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

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

microRNA-132 regulates dendritic growth and arborization of newborn neurons in the adult hippocampus

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

Resequencing and Association Analysis of the KALRN and EPHB1 Genes And Their Contribution to Schizophrenia Susceptibility

(2010) Itaru Kushima et al.   SCHIZOPHRENIA BULLETIN

MicroRNA expression profiling in the prefrontal cortex of individuals affected with schizophrenia and bipolar disorders

(2010) Albert H. Kim et al.   SCHIZOPHRENIA RESEARCH

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

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

miR-124 regulates adult neurogenesis in the subventricular zone stem cell niche

(2009) Li-Chun Cheng et al.   NATURE NEUROSCIENCE

Mapping complex disease traits with global gene expression

(2009) William Cookson et al.   NATURE REVIEWS GENETICS

MicroRNAs in Memory Processing

(2009) Soren J. Fischbach et al.   NEURON

Characterization of Small RNAs in Aplysia Reveals a Role for miR-124 in Constraining Synaptic Plasticity through CREB

(2009) Priyamvada Rajasethupathy et al.   NEURON

Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

(2009) Matthew B. Johnson et al.   NEURON

Cortical surface characteristics among offspring of schizophrenia subjects

(2009) Konasale M. Prasad et al.   SCHIZOPHRENIA RESEARCH

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

(2009) Jonathan Sebat et al.   TRENDS IN GENETICS

MicroRNAs: A new class of gene regulators

(2008) Douglas J. Guarnieri et al.   ANNALS OF MEDICINE

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

MicroRNA miR-124 regulates neurite outgrowth during neuronal differentiation

(2008) Jenn-Yah Yu et al.   EXPERIMENTAL CELL RESEARCH

An activity-regulated microRNA controls dendritic plasticity by down-regulating p250GAP

(2008) Gary A. Wayman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA