The road to precision psychiatry: translating genetics into disease mechanisms

Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study

(2016) Isabelle Cleynen et al.   LANCET

Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study

(2016) Liping Hou et al.   LANCET

A comprehensive transcriptional map of primate brain development

(2016) Trygve E. Bakken et al.   NATURE

Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2

(2016) Zhen Liu et al.   NATURE

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

(2016) Yuan Mei et al.   NATURE

Schizophrenia risk from complex variation of complement component 4

(2016) Aswin Sekar et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

(2016) Elise B Robinson et al.   NATURE GENETICS

Enhancer–promoter interactions are encoded by complex genomic signatures on looping chromatin

(2016) Sean Whalen et al.   NATURE GENETICS

Integrative approaches for large-scale transcriptome-wide association studies

(2016) Alexander Gusev et al.   NATURE GENETICS

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

(2016) Tarjinder Singh et al.   NATURE NEUROSCIENCE

Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

(2016) Barbara Franke et al.   NATURE NEUROSCIENCE

The genetics of drug efficacy: opportunities and challenges

(2016) Matthew R. Nelson et al.   NATURE REVIEWS GENETICS

Unravelling the human genome–phenome relationship using phenome-wide association studies

(2016) William S. Bush et al.   NATURE REVIEWS GENETICS

The statistical properties of gene-set analysis

(2016) Christiaan A. de Leeuw et al.   NATURE REVIEWS GENETICS

Assessment of the genetic variance of late-onset Alzheimer's disease

(2016) Perry G. Ridge et al.   NEUROBIOLOGY OF AGING

Estrogens Suppress a Behavioral Phenotype in Zebrafish Mutants of the Autism Risk Gene, CNTNAP2

(2016) Ellen J. Hoffman et al.   NEURON

Nuclear Receptor NR1H3 in Familial Multiple Sclerosis

(2016) Zhe Wang et al.   NEURON

Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects

(2016) Yang Zhou et al.   NEURON

Clinical trials for neurodevelopmental disorders: At a therapeutic frontier

(2016) Shafali S. Jeste et al.   Science Translational Medicine

Smoking and Schizophrenia in Population Cohorts of Swedish Women and Men: A Prospective Co-Relative Control Study

(2015) Kenneth S. Kendler et al.   AMERICAN JOURNAL OF PSYCHIATRY

Uncovering the Hidden Risk Architecture of the Schizophrenias: Confirmation in Three Independent Genome-Wide Association Studies

(2015) Javier Arnedo et al.   AMERICAN JOURNAL OF PSYCHIATRY

A survey of current trends in computational drug repositioning

(2015) Jiao Li et al.   BRIEFINGS IN BIOINFORMATICS

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

(2015) Jessica Mariani et al.   CELL

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The molecular genetic architecture of attention deficit hyperactivity disorder

(2015) Z Hawi et al.   MOLECULAR PSYCHIATRY

Common alleles contribute to schizophrenia in CNV carriers

(2015) K E Tansey et al.   MOLECULAR PSYCHIATRY

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Opportunities for drug repositioning from phenome-wide association studies

(2015) Majid Rastegar-Mojarad et al.   NATURE BIOTECHNOLOGY

The support of human genetic evidence for approved drug indications

(2015) Matthew R Nelson et al.   NATURE GENETICS

Meta-analysis of the heritability of human traits based on fifty years of twin studies

(2015) Tinca J C Polderman et al.   NATURE GENETICS

Partitioning heritability by functional annotation using genome-wide association summary statistics

(2015) Hilary K Finucane et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

A gene-based association method for mapping traits using reference transcriptome data

(2015) Eric R Gamazon et al.   NATURE GENETICS

Modeling psychiatric disorders for developing effective treatments

(2015) Tobias Kaiser et al.   NATURE MEDICINE

Sensitive detection of chromatin-altering polymorphisms reveals autoimmune disease mechanisms

(2015) Ricardo Cruz-Herrera del Rosario et al.   NATURE METHODS

Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture

(2015) Anca M Paşca et al.   NATURE METHODS

The PsychENCODE project

(2015) Schahram Akbarian et al.   NATURE NEUROSCIENCE

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

(2015)   NATURE NEUROSCIENCE

Mapping DNA methylation across development, genotype and schizophrenia in the human frontal cortex

(2015) Andrew E Jaffe et al.   NATURE NEUROSCIENCE

Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci

(2015) Eilis Hannon et al.   NATURE NEUROSCIENCE

Pervasive robustness in biological systems

(2015) Marie-Anne Félix et al.   NATURE REVIEWS GENETICS

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

(2015) Neelroop N. Parikshak et al.   NATURE REVIEWS GENETICS

Genomic Perspectives of Transcriptional Regulation in Forebrain Development

(2015) Alex S. Nord et al.   NEURON

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

(2015) Stephan J. Sanders et al.   NEURON

Discontinuity in the genetic and environmental causes of the intellectual disability spectrum

(2015) Abraham Reichenberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A survey of human brain transcriptome diversity at the single cell level

(2015) Spyros Darmanis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Progress and promise in understanding the genetic basis of common diseases

(2015) Alkes L. Price et al.   PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Genetics and genomics of psychiatric disease

(2015) D. H. Geschwind et al.   SCIENCE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Early Cannabis Use, Polygenic Risk Score for Schizophrenia and Brain Maturation in Adolescence

(2015) Leon French et al.   JAMA Psychiatry

Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders

(2015) Jingjing Li et al.   Cell Systems

Fmr1 and Nlgn3 knockout rats: Novel tools for investigating autism spectrum disorders.

(2014) Shannon M. Hamilton et al.   BEHAVIORAL NEUROSCIENCE

PRSice: Polygenic Risk Score software

(2014) Jack Euesden et al.   BIOINFORMATICS

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

Cell Type-Specific Expression Analysis to Identify Putative Cellular Mechanisms for Neurogenetic Disorders

(2014) X. Xu et al.   JOURNAL OF NEUROSCIENCE

An RNA-Sequencing Transcriptome and Splicing Database of Glia, Neurons, and Vascular Cells of the Cerebral Cortex

(2014) Y. Zhang et al.   JOURNAL OF NEUROSCIENCE

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

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Guidelines for investigating causality of sequence variants in human disease

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

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Genetic variability in the regulation of gene expression in ten regions of the human brain

(2014) Adaikalavan Ramasamy et al.   NATURE NEUROSCIENCE

Genome-scale neurogenetics: methodology and meaning

(2014) Steven A McCarroll et al.   NATURE NEUROSCIENCE

Large-scale genomics unveils the genetic architecture of psychiatric disorders

(2014) Jacob Gratten et al.   NATURE NEUROSCIENCE

Statistical power and significance testing in large-scale genetic studies

(2014) Pak C. Sham et al.   NATURE REVIEWS GENETICS

A Quantitative Framework to Evaluate Modeling of Cortical Development by Neural Stem Cells

(2014) Jason L. Stein et al.   NEURON

The Genetics of Major Depression

(2014) Jonathan Flint et al.   NEURON

Assessing the utility of intermediate phenotypes for genetic mapping of psychiatric disease

(2014) Jonathan Flint et al.   TRENDS IN NEUROSCIENCES

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles

(2014) Jacqueline I. Goldstein et al.   Nature Communications

A Role for Noncoding Variation in Schizophrenia

(2014) Panos Roussos et al.   Cell Reports

Behavioral Abnormalities and Circuit Defects in the Basal Ganglia of a Mouse Model of 16p11.2 Deletion Syndrome

(2014) Thomas Portmann et al.   Cell Reports

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

(2013) Suleyman Gulsuner et al.   CELL

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

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

(2013)   LANCET

Population structure confounds autism genetic classifier

(2013) T G Belgard 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

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

(2013) D M Ruderfer et al.   MOLECULAR PSYCHIATRY

What psychiatric genetics has taught us about the nature of psychiatric illness and what is left to learn

(2013) Kenneth S Kendler   MOLECULAR PSYCHIATRY

Chromatin connectivity maps reveal dynamic promoter–enhancer long-range associations

(2013) Yubo Zhang et al.   NATURE

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

(2013) S Hong Lee et al.   NATURE GENETICS

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

(2013) Stephan Ripke et al.   NATURE GENETICS

Validating therapeutic targets through human genetics

(2013) Robert M. Plenge et al.   NATURE REVIEWS DRUG DISCOVERY

The heritability of human disease: estimation, uses and abuses

(2013) Albert Tenesa et al.   NATURE REVIEWS GENETICS

Cortical Evolution: Judge the Brain by Its Cover

(2013) Daniel H. Geschwind et al.   NEURON

Genomic responses in mouse models poorly mimic human inflammatory diseases

(2013) Junhee Seok et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Species-Dependent Posttranscriptional Regulation of NOS1 by FMRP in the Developing Cerebral Cortex

(2012) Kenneth Y. Kwan et al.   CELL

Linking disease associations with regulatory information in the human genome

(2012) M. A. Schaub et al.   GENOME RESEARCH

Predicting the diagnosis of autism spectrum disorder using gene pathway analysis

(2012) E Skafidas et al.   MOLECULAR PSYCHIATRY

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

(2012) Christelle Golzio et al.   NATURE

The long-range interaction landscape of gene promoters

(2012) Amartya Sanyal et al.   NATURE

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Massively parallel functional dissection of mammalian enhancers in vivo

(2012) Rupali P Patwardhan et al.   NATURE BIOTECHNOLOGY

Diverse types of genetic variation converge on functional gene networks involved in schizophrenia

(2012) Sarah R Gilman et al.   NATURE NEUROSCIENCE

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

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

Transcriptional Architecture of the Primate Neocortex

(2012) Amy Bernard et al.   NEURON

Human-Specific Transcriptional Networks in the Brain

(2012) Genevieve Konopka et al.   NEURON

Systematic Localization of Common Disease-Associated Variation in Regulatory DNA

(2012) M. T. Maurano et al.   SCIENCE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Revolution Stalled

(2012) S. E. Hyman   Science Translational Medicine

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

(2012) Lambertus Klei et al.   Molecular Autism

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

(2011) Ricardo Dolmetsch et al.   CELL

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

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

(2011) Stephen Sawcer et al.   NATURE

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

(2011)   NATURE GENETICS

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

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Using electronic health records to drive discovery in disease genomics

(2011) Isaac S. Kohane   NATURE REVIEWS GENETICS

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

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

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

GCTA: A Tool for Genome-wide Complex Trait Analysis

(2010) Jian Yang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Changing the Landscape of Autism Research: The Autism Genetic Resource Exchange

(2010) Clara M. Lajonchere   NEURON

Divergence of human and mouse brain transcriptome highlights Alzheimer disease pathways

(2010) Jeremy A. Miller et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) Paul Lichtenstein et al.   LANCET

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Genomic views of distant-acting enhancers

(2009) Axel Visel et al.   NATURE

The genetics of quantitative traits: challenges and prospects

(2009) Trudy F. C. Mackay et al.   NATURE REVIEWS GENETICS

Neural Mechanisms of a Genome-Wide Supported Psychosis Variant

(2009) C. Esslinger et al.   SCIENCE

Common Regulatory Variation Impacts Gene Expression in a Cell Type-Dependent Manner

(2009) A. S. Dimas et al.   SCIENCE

Comprehensive Mapping of Long-Range Interactions Reveals Folding Principles of the Human Genome

(2009) E. Lieberman-Aiden et al.   SCIENCE

Prediction of individual genetic risk of complex disease

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