Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

(2022) Vassily Trubetskoy et al.   NATURE

Rare coding variants in ten genes confer substantial risk for schizophrenia

(2022) Tarjinder Singh et al.   NATURE

The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing

(2021) Rachel E. Rodin et al.   NATURE NEUROSCIENCE

Large mosaic copy number variations confer autism risk

(2021) Maxwell A. Sherman et al.   NATURE NEUROSCIENCE

The contribution of X-linked coding variation to severe developmental disorders

(2021) Hilary C. Martin et al.   Nature Communications

A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders

(2021) CM Díaz-Caneja et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Single-cell atlas of early human brain development highlights heterogeneity of human neuroepithelial cells and early radial glia

(2021) Ugomma C. Eze et al.   NATURE NEUROSCIENCE

Parallel in vivo analysis of large-effect autism genes implicates cortical neurogenesis and estrogen in risk and resilience

(2021) Helen Rankin Willsey et al.   NEURON

Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution

(2021) Alexandro E. Trevino et al.   CELL

Genome-wide CRISPRi/a screens in human neurons link lysosomal failure to ferroptosis

(2021) Ruilin Tian et al.   NATURE NEUROSCIENCE

Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations

(2021) Elliott Rees et al.   Nature Communications

A convergent molecular network underlying autism and congenital heart disease

(2021) Sara Brin Rosenthal et al.   Cell Systems

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility

(2020) Viola Volpato et al.   Disease Models & Mechanisms

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder

(2020) K. Griesi-Oliveira et al.   MOLECULAR PSYCHIATRY

Cell stress in cortical organoids impairs molecular subtype specification

(2020) Aparna Bhaduri et al.   NATURE

Chromatin accessibility dynamics in a model of human forebrain development

(2020) Alexandro E. Trevino et al.   SCIENCE

Autism spectrum disorder

(2020) Catherine Lord et al.   Nature Reviews Disease Primers

Insufficient Evidence for “Autism-Specific” Genes

(2020) Scott M. Myers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inherited Risk for Autism Through Maternal and Paternal Lineage

(2020) Dan Bai et al.   BIOLOGICAL PSYCHIATRY

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex

(2020) Donna M. Werling et al.   Cell Reports

Atypical neurogenesis in induced pluripotent stem cell (iPSC) from autistic individuals

(2020) Dwaipayan Adhya et al.   BIOLOGICAL PSYCHIATRY

CRISPR-based functional genomics for neurological disease

(2020) Martin Kampmann   Nature Reviews Neurology

Leveraging large genomic datasets to illuminate the pathobiology of autism spectrum disorders

(2020) Veronica B. Searles Quick et al.   NEUROPSYCHOPHARMACOLOGY

Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers

(2020) Özgür Genç et al.   eLife

High-throughput single-cell functional elucidation of neurodevelopmental disease–associated genes reveals convergent mechanisms altering neuronal differentiation

(2020) Matthew A. Lalli et al.   GENOME RESEARCH

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

(2020) Klaus Schmitz-Abe et al.   Scientific Reports

Generation of Functional Human 3D Cortico-Motor Assembloids

(2020) Jimena Andersen et al.   CELL

Xenopus leads the way: Frogs as a pioneering model to understand the human brain

(2020) Cameron R. T. Exner et al.   GENESIS

Generation of human striatal organoids and cortico-striatal assembloids from human pluripotent stem cells

(2020) Yuki Miura et al.   NATURE BIOTECHNOLOGY

The Gene Ontology resource: enriching a GOld mine

(2020) et al.   NUCLEIC ACIDS RESEARCH

In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes

(2020) Xin Jin et al.   SCIENCE

Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons

(2019) Simon T. Schafer et al.   NATURE NEUROSCIENCE

Identification of common genetic risk variants for autism spectrum disorder

(2019) Jakob Grove et al.   NATURE GENETICS

Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution

(2019) Alex A. Pollen et al.   CELL

Single-cell genomics identifies cell type–specific molecular changes in autism

(2019) Dmitry Velmeshev et al.   SCIENCE

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

(2019) Alexandria T. M. Blackburn et al.   GENETICS IN MEDICINE

Recessive gene disruptions in autism spectrum disorder

(2019) Ryan N. Doan et al.   NATURE GENETICS

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation

(2019) Damon Polioudakis et al.   NEURON

State of the Field: Differentiating Intellectual Disability From Autism Spectrum Disorder

(2019) Audrey Thurm et al.   Frontiers in Psychiatry

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks

(2019) Elizabeth K. Ruzzo et al.   CELL

Getting to the Cores of Autism

(2019) Lilia M. Iakoucheva et al.   CELL

CRISPR Interference-Based Platform for Multimodal Genetic Screens in Human iPSC-Derived Neurons

(2019) Ruilin Tian et al.   NEURON

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

(2019) Caroline M. Dias et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Control of Expression and Splicing in Developing Human Brain Informs Disease Mechanisms

(2019) Rebecca L. Walker et al.   CELL

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

(2019) Ghayda M. Mirzaa et al.   GENETICS IN MEDICINE

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

(2019) F. Kyle Satterstrom et al.   NATURE NEUROSCIENCE

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

(2019) Hui Guo et al.   Nature Communications

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder

(2019) Olafur O. Gudmundsson et al.   Translational Psychiatry

Differences in the importance of microcephaly, dysmorphism, and epilepsy in the detection of pathogenic CNVs in ID and ASD patients

(2019) Zuzana Capkova et al.   PeerJ

A large data resource of genomic copy number variation across neurodevelopmental disorders

(2019) Mehdi Zarrei et al.   npj Genomic Medicine

Human brain development through the lens of cerebral organoid models

(2019) Madeline G. Andrews et al.   BRAIN RESEARCH

Psychiatric Genomics: An Update and an Agenda

(2018) Patrick F. Sullivan et al.   AMERICAN JOURNAL OF PSYCHIATRY

Gene regulatory mechanisms underlying sex differences in brain development and psychiatric disease

(2018) Devanand S. Manoli et al.   Annals of the New York Academy of Sciences

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

(2018) Anke Van Dijck et al.   BIOLOGICAL PSYCHIATRY

Spatial transcriptomic survey of human embryonic cerebral cortex by single-cell RNA-seq analysis

(2018) Xiaoying Fan et al.   CELL RESEARCH

A single-cell RNA-seq survey of the developmental landscape of the human prefrontal cortex

(2018) Suijuan Zhong et al.   NATURE

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

(2018) Donna M. Werling et al.   NATURE GENETICS

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

(2018) Pamela Feliciano et al.   NEURON

Analysis of shared heritability in common disorders of the brain

(2018) et al.   SCIENCE

Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons

(2018) Brooke A. DeRosa et al.   Scientific Reports

Systematic Evaluation of Molecular Networks for Discovery of Disease Genes

(2018) Justin K. Huang et al.   Cell Systems

The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders

(2018) A. Jeremy Willsey et al.   CELL

Gene annotation bias impedes biomedical research

(2018) Winston A. Haynes et al.   Scientific Reports

Coupled Single-Cell CRISPR Screening and Epigenomic Profiling Reveals Causal Gene Regulatory Networks

(2018) Adam J. Rubin et al.   CELL

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

(2018) Hui Guo et al.   GENETICS IN MEDICINE

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

Lost in Translation: Traversing the Complex Path from Genomics to Therapeutics in Autism Spectrum Disorder

(2018) Nenad Sestan et al.   NEURON

PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools

(2018) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

(2018) Michael J. Gandal et al.   SCIENCE

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

(2018) Mingfeng Li et al.   SCIENCE

Comprehensive functional genomic resource and integrative model for the human brain

(2018) Daifeng Wang et al.   SCIENCE

Transcriptome and epigenome landscape of human cortical development modeled in organoids

(2018) Anahita Amiri et al.   SCIENCE

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

(2018) Eric Deneault et al.   Stem Cell Reports

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

(2017) Yanmei Dou et al.   HUMAN MUTATION

What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis

(2017) Rachel Loomes et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Assembly of functionally integrated human forebrain spheroids

(2017) Fikri Birey et al.   NATURE

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

(2017) Daniel J Weiner et al.   NATURE GENETICS

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Pooled CRISPR screening with single-cell transcriptome readout

(2017) Paul Datlinger et al.   NATURE METHODS

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

qSVA framework for RNA quality correction in differential expression analysis

(2017) Andrew E. Jaffe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex

(2017) Tomasz J. Nowakowski et al.   SCIENCE

Association of Sex With Recurrence of Autism Spectrum Disorder Among Siblings

(2017) Nathan Palmer et al.   JAMA Pediatrics

Systematic analysis of gene expression patterns associated with postmortem interval in human tissues

(2017) Yizhang Zhu et al.   Scientific Reports

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

(2016) Virpi M. Leppa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dissecting Immune Circuits by Linking CRISPR-Pooled Screens with Single-Cell RNA-Seq

(2016) Diego Adhemar Jaitin et al.   CELL

Perturb-Seq: Dissecting Molecular Circuits with Scalable Single-Cell RNA Profiling of Pooled Genetic Screens

(2016) Atray Dixit et al.   CELL

A Multiplexed Single-Cell CRISPR Screening Platform Enables Systematic Dissection of the Unfolded Protein Response

(2016) Britt Adamson et al.   CELL

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

(2016) M C Marchetto et al.   MOLECULAR PSYCHIATRY

Genome-wide changes in lncRNA, splicing and regional gene expression patterns in autism

(2016) Neelroop N. Parikshak et al.   NATURE

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

(2016) Monkol Lek 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

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

(2016) Ellen J. Hoffman et al.   NEURON

Neocortical neurogenesis and the etiology of autism spectrum disorder

(2016) Alan Packer   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Multifaceted origins of sex differences in the brain

(2016) Margaret M. McCarthy   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

The Contribution of Mosaic Variants to Autism Spectrum Disorder

(2016) Donald Freed et al.   PLoS Genetics

The role of sex-differential biology in risk for autism spectrum disorder

(2016) Donna M. Werling   Biology of Sex Differences

A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

(2015) Pauline Chaste et al.   BIOLOGICAL PSYCHIATRY

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

(2015) Jessica Mariani et al.   CELL

Molecular Identity of Human Outer Radial Glia during Cortical Development

(2015) Alex A. Pollen et al.   CELL

Autism spectrum disorders: from genes to neurobiology

(2015) A Jeremy Willsey et al.   CURRENT OPINION IN NEUROBIOLOGY

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

(2015) Jianling Ji et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Heritability of autism spectrum disorders: a meta-analysis of twin studies

(2015) Beata Tick et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

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(2015) Anne-Sophie Jannot et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases

(2015) Guan Ning Lin et al.   NEURON

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

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

(2015) Stephan J. Sanders et al.   NEURON

Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample

(2015) Emma Colvert et al.   JAMA Psychiatry

The female protective effect in autism spectrum disorder is not mediated by a single genetic locus

(2015) Jake Gockley et al.   Molecular Autism

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

(2014) Sébastien Jacquemont et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Biological Overlap of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder: Evidence From Copy Number Variants

(2014) Joanna Martin et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Elevated fetal steroidogenic activity in autism

(2014) S Baron-Cohen et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   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

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

(2014) Mohammed Uddin et al.   NATURE GENETICS

Genotype to phenotype relationships in autism spectrum disorders

(2014) Jonathan Chang et al.   NATURE NEUROSCIENCE

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

(2014) Elise B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism

(2014) Simone Gupta et al.   Nature Communications

CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis

(2014) M. Chiara Manzini et al.   Cell Reports

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

(2014) Shan Dong et al.   Cell Reports

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

(2014) Li Liu et al.   Molecular Autism

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

(2013) Edward Y Chen et al.   BMC BIOINFORMATICS

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

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

(2013) Neelroop N. Parikshak et al.   CELL

Sex differences in autism spectrum disorders

(2013) Donna M. Werling et al.   CURRENT OPINION IN NEUROLOGY

A Danish population-based twin study on autism spectrum disorders

(2013) Claudia Nordenbæk et al.   EUROPEAN CHILD & ADOLESCENT PSYCHIATRY

How autism became autism

(2013) Bonnie Evans   HISTORY OF THE HUMAN SCIENCES

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

(2013)   LANCET

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

(2013) S Hong Lee et al.   NATURE GENETICS

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

Biases in the Experimental Annotations of Protein Function and Their Effect on Our Understanding of Protein Function Space

(2013) Alexandra M. Schnoes et al.   PLoS Computational Biology

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

(2013) Xin He et al.   PLoS Genetics

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

(2013) Brett S Abrahams et al.   Molecular Autism

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism

(2012) E Ben-David et al.   MOLECULAR PSYCHIATRY

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

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

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

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

A gene ontology inferred from molecular networks

(2012) Janusz Dutkowski et al.   NATURE BIOTECHNOLOGY

Transcriptional Architecture of the Primate Neocortex

(2012) Amy Bernard et al.   NEURON

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

The Emerging Biology of Autism Spectrum Disorders

(2012) M. W. State et al.   SCIENCE

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Networks of Neuronal Genes Affected by Common and Rare Variants in Autism Spectrum Disorders

(2012) Eyal Ben-David et al.   PLoS Genetics

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

(2012) Lambertus Klei et al.   Molecular Autism

Genetic causes of microcephaly and lessons for neuronal development

(2012) Edward C. Gilmore et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Prevalence of Autism Spectrum Disorders in a Total Population Sample

(2011) Young Shin Kim et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

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

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

The conundrums of understanding genetic risks for autism spectrum disorders

(2011) Matthew W State et al.   NATURE NEUROSCIENCE

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

(2011) S. Ozonoff et al.   PEDIATRICS

Sibling Recurrence and the Genetic Epidemiology of Autism

(2010) John N. Constantino et al.   AMERICAN JOURNAL OF PSYCHIATRY

The Genetics of Autism Spectrum Disorders and Related Neuropsychiatric Disorders in Childhood

(2010) Paul Lichtenstein et al.   AMERICAN JOURNAL OF PSYCHIATRY

SFARI Gene: an evolving database for the autism research community

(2010) S. Banerjee-Basu et al.   Disease Models & Mechanisms

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

(2010) Nigel M Williams et al.   LANCET

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

(2010) Kaya Bilgüvar et al.   NATURE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Characteristics and Concordance of Autism Spectrum Disorders Among 277 Twin Pairs

(2009) Rebecca E. Rosenberg et al.   ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Social Communication Competence and Functional Adaptation in a General Population of Children: Preliminary Evidence for Sex-by-Verbal IQ Differential Risk

(2009) David H. Skuse et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Common variants on chromosome 6p22.1 are associated with schizophrenia

(2009) Jianxin Shi et al.   NATURE

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

(2009) Shaun M. Purcell et al.   NATURE

Common variants conferring risk of schizophrenia

(2009) Hreinn Stefansson et al.   NATURE

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

(2008) Hyung-Goo Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic influences on the broad spectrum of autism: Study of proband-ascertained twins

(2008) Hiroko Taniai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Autism and Brain Development

(2008) Christopher A. Walsh et al.   CELL

Application of a Translational Profiling Approach for the Comparative Analysis of CNS Cell Types

(2008) Joseph P. Doyle et al.   CELL

Hedgehog signaling is involved in development of the neocortex

(2008) M. Komada et al.   DEVELOPMENT

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

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

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE