Advancing the understanding of autism disease mechanisms through genetics

Clinical trials for neurodevelopmental disorders: At a therapeutic frontier

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

Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

(2015) Robert Maier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Social Responsiveness, an Autism Endophenotype: Genomewide Significant Linkage to Two Regions on Chromosome 8

(2015) Jennifer K. Lowe 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

Schizophrenia or Schizophrenias? The Challenge of Genetic Parsing of a Complex Disorder

(2015) Assen Jablensky   AMERICAN JOURNAL OF PSYCHIATRY

Addressing the Genetics of Human Mental Health Disorders in Model Organisms

(2015) Jasmine M. McCammon et al.   Annual Review of Genomics and Human Genetics

The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology

(2015) Jason A. Chen et al.   Annual Review of Pathology-Mechanisms of Disease

Critical Periods in Speech Perception: New Directions

(2015) Janet F. Werker et al.   Annual Review of Psychology

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

(2015) Jessica Mariani et al.   CELL

Saturated Reconstruction of a Volume of Neocortex

(2015) Narayanan Kasthuri et al.   CELL

Electrophysiological biomarkers of diagnosis and outcome in neurodevelopmental disorders

(2015) Shafali S. Jeste et al.   CURRENT OPINION IN NEUROLOGY

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

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

(2015) Lucas M Bronicki et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Quantitative genetics of disease traits

(2015) N.R. Wray et al.   JOURNAL OF ANIMAL BREEDING AND GENETICS

Neuroimaging in autism spectrum disorder: brain structure and function across the lifespan

(2015) Christine Ecker et al.   LANCET NEUROLOGY

Gene hunting in autism spectrum disorder: on the path to precision medicine

(2015) Daniel H Geschwind et al.   LANCET NEUROLOGY

Oxytocin enables maternal behaviour by balancing cortical inhibition

(2015) Bianca J. Marlin et al.   NATURE

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm 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

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

(2015) Anca M Paşca et al.   NATURE METHODS

Contribution of mGluR5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion

(2015) Di Tian et al.   NATURE NEUROSCIENCE

JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse

(2015) Jamee M. Berg et al.   NEURON

The Autism Related Protein Contactin-Associated Protein-Like 2 (CNTNAP2) Stabilizes New Spines: An In Vivo Mouse Study

(2015) Amos Gdalyahu et al.   PLoS One

Genetics and genomics of psychiatric disease

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

Exogenous and evoked oxytocin restores social behavior in the Cntnap2 mouse model of autism

(2015) Olga Peñagarikano et al.   Science Translational Medicine

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

(2015) Justin Cotney et al.   Nature Communications

Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation

(2015) Eun-Jae Lee et al.   Nature Communications

Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators

(2015) Lara J. Duffney et al.   Cell Reports

Selective Role of the Catalytic PI3K Subunit p110β in Impaired Higher Order Cognition in Fragile X Syndrome

(2015) Christina Gross et al.   Cell Reports

Cerebellar associative sensory learning defects in five mouse autism models

(2015) Alexander D Kloth et al.   eLife

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Translational Control in Synaptic Plasticity and Cognitive Dysfunction

(2014) Shelly A. Buffington et al.   Annual Review of Neuroscience

Autism-Associated Neuroligin-3 Mutations Commonly Impair Striatal Circuits to Boost Repetitive Behaviors

(2014) Patrick E. Rothwell et al.   CELL

Natural Neural Projection Dynamics Underlying Social Behavior

(2014) Lisa A. Gunaydin et al.   CELL

Neural Networks of the Mouse Neocortex

(2014) Brian Zingg et al.   CELL

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

(2014) Holly A. Stessman et al.   CELL

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

Pharmacological rescue of Ras signaling, GluA1-dependent synaptic plasticity, and learning deficits in a fragile X model

(2014) C.-S. Lim et al.   GENES & DEVELOPMENT

The Familial Risk of Autism

(2014) Sven Sandin et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

The effects of a course of intranasal oxytocin on social behaviors in youth diagnosed with autism spectrum disorders: a randomized controlled trial

(2014) Adam J. Guastella et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Elucidating the neurophysiological underpinnings of autism spectrum disorder: new developments

(2014) C. Luckhardt et al.   JOURNAL OF NEURAL TRANSMISSION

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR

(2014) A Oguro-Ando et al.   MOLECULAR PSYCHIATRY

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

(2014) K Griesi-Oliveira et al.   MOLECULAR PSYCHIATRY

Clustering autism: using neuroanatomical differences in 26 mouse models to gain insight into the heterogeneity

(2014) J Ellegood 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

Radial glia require PDGFD–PDGFRβ signalling in human but not mouse neocortex

(2014) Jan H. Lui 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

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Tbr1 haploinsufficiency impairs amygdalar axonal projections and results in cognitive abnormality

(2014) Tzyy-Nan Huang et al.   NATURE NEUROSCIENCE

FMRP regulates multipolar to bipolar transition affecting neuronal migration and cortical circuitry

(2014) Giorgio La Fata et al.   NATURE NEUROSCIENCE

Large-scale genomics unveils the genetic architecture of psychiatric disorders

(2014) Jacob Gratten et al.   NATURE NEUROSCIENCE

Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior

(2014) Yang Zhan et al.   NATURE NEUROSCIENCE

Statistical power and significance testing in large-scale genetic studies

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

The role of de novo mutations in the genetics of autism spectrum disorders

(2014) Michael Ronemus et al.   NATURE REVIEWS GENETICS

The Cerebellum, Sensitive Periods, and Autism

(2014) Samuel S.-H. Wang et al.   NEURON

Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

(2014) Guomei Tang et al.   NEURON

Enhancement of Inhibitory Neurotransmission by GABA A Receptors Having α 2,3 -Subunits Ameliorates Behavioral Deficits in a Mouse Model of Autism

(2014) Sung Han et al.   NEURON

The Neurology of mTOR

(2014) Jonathan O. Lipton et al.   NEURON

CORTECON: A Temporal Transcriptome Analysis of In Vitro Human Cerebral Cortex Development from Human Embryonic Stem Cells

(2014) Joyce van de Leemput et al.   NEURON

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

(2014) Jason L. Stein et al.   NEURON

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome

(2014) Jorge Castro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

β2-Adrenergic receptor agonist ameliorates phenotypes and corrects microRNA-mediated IGF1 deficits in a mouse model of Rett syndrome

(2014) Nikolaos Mellios et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CHD8regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

(2014) Aarathi Sugathan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oxytocin-Mediated GABA Inhibition During Delivery Attenuates Autism Pathogenesis in Rodent Offspring

(2014) R. Tyzio et al.   SCIENCE

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Neuronal excitation upregulates Tbr1, a high-confidence risk gene of autism, mediating Grin2b expression in the adult brain

(2014) Hsiu-Chun Chuang et al.   Frontiers in Cellular Neuroscience

Enhanced synapse remodelling as a common phenotype in mouse models of autism

(2014) Masaaki Isshiki et al.   Nature Communications

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

(2014) Simone Gupta et al.   Nature Communications

Psychosocial Treatments for Individuals with Autism Spectrum Disorder Across the Lifespan: New Developments and Underlying Mechanisms

(2014) Connie Kasari et al.   Current Psychiatry Reports

Multimodal Imaging in Autism: an Early Review of Comprehensive Neural Circuit Characterization

(2014) Benjamin E. Yerys et al.   Current Psychiatry Reports

Overproduction of Upper-Layer Neurons in the Neocortex Leads to Autism-like Features in Mice

(2014) Wei-Qun Fang et al.   Cell Reports

A Role for Dendritic mGluR5-Mediated Local Translation of Arc/Arg3.1 in MEF2-Dependent Synapse Elimination

(2014) Julia R. Wilkerson et al.   Cell Reports

Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome

(2014) Yuan Tian et al.   Genome Medicine

Parental Social Responsiveness and Risk of Autism Spectrum Disorder in Offspring

(2014) Kristen Lyall et al.   JAMA Psychiatry

Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder

(2014) Donna M Werling et al.   Molecular Autism

Age-related decreased inhibitory vs. excitatory gene expression in the adult autistic brain

(2014) Louie N. van de Lagemaat et al.   Frontiers in Neuroscience

Autism spectrum disorders: The quest for genetic syndromes

(2013) Dimitrios I. Zafeiriou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

From Kanner to DSM-5: Autism as an Evolving Diagnostic Concept

(2013) Fred R. Volkmar et al.   Annual Review of Clinical Psychology

Estimation and Partition of Heritability in Human Populations Using Whole-Genome Analysis Methods

(2013) Anna A.E. Vinkhuyzen et al.   Annual Review of Genetics

Balb/c mice treated with d-cycloserine arouse increased social interest in conspecifics

(2013) Andrew D. Benson et al.   BRAIN RESEARCH BULLETIN

d-Cycloserine improves sociability in the BTBR T+ Itpr3tf/J mouse model of autism spectrum disorders with altered Ras/Raf/ERK1/2 signaling

(2013) Jessica A. Burket et al.   BRAIN RESEARCH BULLETIN

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

Microbiota Modulate Behavioral and Physiological Abnormalities Associated with Neurodevelopmental Disorders

(2013) Elaine Y. Hsiao et al.   CELL

Global Transcriptional and Translational Repression in Human-Embryonic-Stem-Cell-Derived Rett Syndrome Neurons

(2013) Yun Li et al.   Cell Stem Cell

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

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

The Chromatin Remodeler CHD7 Regulates Adult Neurogenesis via Activation of SoxC Transcription Factors

(2013) Weijun Feng 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

Chromatin Regulation by BAF170 Controls Cerebral Cortical Size and Thickness

(2013) Tran Cong Tuoc et al.   DEVELOPMENTAL CELL

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

(2013) Anna Corradi et al.   HUMAN MOLECULAR GENETICS

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

(2013) Anath C. Lionel et al.   HUMAN MOLECULAR GENETICS

Long-Term Administration of Intranasal Oxytocin Is a Safe and Promising Therapy for Early Adolescent Boys with Autism Spectrum Disorders

(2013) Masaya Tachibana et al.   JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY

Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis’

(2013) E B Robinson et al.   MOLECULAR PSYCHIATRY

Population structure confounds autism genetic classifier

(2013) T G Belgard et al.   MOLECULAR PSYCHIATRY

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

(2013) L P Sowers et al.   MOLECULAR PSYCHIATRY

Attention to eyes is present but in decline in 2–6-month-old infants later diagnosed with autism

(2013) Warren Jones et al.   NATURE

Astrocytes mediate synapse elimination through MEGF10 and MERTK pathways

(2013) Won-Suk Chung et al.   NATURE

Oxytocin enhances hippocampal spike transmission by modulating fast-spiking interneurons

(2013) Scott F. Owen et al.   NATURE

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease

(2013) Jacob Gratten et al.   NATURE GENETICS

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

(2013) S Hong Lee et al.   NATURE GENETICS

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

(2013) Jean-Charles Lambert et al.   NATURE GENETICS

Chromatin modifiers and remodellers: regulators of cellular differentiation

(2013) Taiping Chen et al.   NATURE REVIEWS GENETICS

From neural development to cognition: unexpected roles for chromatin

(2013) Jehnna L. Ronan et al.   NATURE REVIEWS GENETICS

Emerging roles of astrocytes in neural circuit development

(2013) Laura E. Clarke et al.   NATURE REVIEWS NEUROSCIENCE

Decreased left perisylvian GABA concentration in children with autism and unaffected siblings

(2013) Donald C. Rojas et al.   NEUROIMAGE

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

(2013) Elaine T. Lim et al.   NEURON

Cortical Evolution: Judge the Brain by Its Cover

(2013) Daniel H. Geschwind et al.   NEURON

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Pyramidal Neurons Derived from Human Pluripotent Stem Cells Integrate Efficiently into Mouse Brain Circuits In Vivo

(2013) Ira Espuny-Camacho et al.   NEURON

Altered Social Behaviours in Neurexin 1α Knockout Mice Resemble Core Symptoms in Neurodevelopmental Disorders

(2013) Hannah Mary Grayton et al.   PLoS One

Understanding sex bias in autism spectrum disorder

(2013) D. M. Werling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Self-organization of axial polarity, inside-out layer pattern, and species-specific progenitor dynamics in human ES cell-derived neocortex

(2013) T. Kadoshima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Examining and interpreting the female protective effect against autistic behavior

(2013) E. B. Robinson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

(2013) Hyun Ji Noh et al.   PLoS Genetics

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay

(2013) Ozlem Bozdagi et al.   Molecular Autism

Multiple Autism-Linked Genes Mediate Synapse Elimination via Proteasomal Degradation of a Synaptic Scaffold PSD-95

(2012) Nien-Pei Tsai et al.   CELL

Cortical neurogenesis and morphogens: diversity of cues, sources and functions

(2012) Luca Tiberi et al.   CURRENT OPINION IN CELL BIOLOGY

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

(2012) Amélie Piton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

(2012) Anthony J. Griswold et al.   HUMAN MOLECULAR GENETICS

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

(2012) Brent L. Fogel et al.   HUMAN MOLECULAR GENETICS

A Role of the Mammalian Target of Rapamycin (mTOR) in Glutamate-Induced Down-regulation of Tuberous Sclerosis Complex Proteins 2 (TSC2)

(2012) Wenjuan Ru et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Of mice and monkeys: using non-human primate models to bridge mouse- and human-based investigations of autism spectrum disorders

(2012) Karli K Watson et al.   Journal of Neurodevelopmental Disorders

Predicting the diagnosis of autism spectrum disorder using gene pathway analysis

(2012) E Skafidas et al.   MOLECULAR PSYCHIATRY

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

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Wild-type microglia arrest pathology in a mouse model of Rett syndrome

(2012) Noël C. Derecki et al.   NATURE

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

(2012) Hyejung Won et al.   NATURE

Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice

(2012) Peter T. Tsai et al.   NATURE

Exaggerated translation causes synaptic and behavioural aberrations associated with autism

(2012) Emanuela Santini et al.   NATURE

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

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

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

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

(2012) Sara Ricciardi et al.   NATURE CELL BIOLOGY

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

(2012) S Hong Lee et al.   NATURE GENETICS

Autism-Associated Promoter Variant in MET Impacts Functional and Structural Brain Networks

(2012) Jeffrey D. Rudie et al.   NEURON

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Microglia Sculpt Postnatal Neural Circuits in an Activity and Complement-Dependent Manner

(2012) Dorothy P. Schafer et al.   NEURON

Elevated Glutamatergic Compounds in Pregenual Anterior Cingulate in Pediatric Autism Spectrum Disorder Demonstrated by 1H MRS and 1H MRSI

(2012) Anthony Bejjani et al.   PLoS One

Fingolimod, a sphingosine-1 phosphate receptor modulator, increases BDNF levels and improves symptoms of a mouse model of Rett syndrome

(2012) R. Deogracias et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Modeling human cortical development in vitro using induced pluripotent stem cells

(2012) J. Mariani et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Shared Synaptic Pathophysiology in Syndromic and Nonsyndromic Rodent Models of Autism

(2012) S. J. Baudouin et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Synapses and Memory Storage

(2012) M. Mayford et al.   Cold Spring Harbor Perspectives in Biology

Microglial Activation in Young Adults With Autism Spectrum Disorder

(2012) Katsuaki Suzuki et al.   JAMA Psychiatry

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

(2012) Lambertus Klei et al.   Molecular Autism

Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

(2011) Andrea K. Vaags et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism spectrum disorders and autistic traits: A decade of new twin studies

(2011) Angelica Ronald et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Glioblastoma: From Molecular Pathology to Targeted Treatment

(2011) Timothy F. Cloughesy et al.   Annual Review of Pathology-Mechanisms of Disease

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

Pharmacologic Rescue of Impaired Cognitive Flexibility, Social Deficits, Increased Aggression, and Seizure Susceptibility in Oxytocin Receptor Null Mice: A Neurobehavioral Model of Autism

(2011) Mariaelvina Sala et al.   BIOLOGICAL PSYCHIATRY

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

(2011) Ricardo Dolmetsch et al.   CELL

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

Sustained Activation of mTOR Pathway in Embryonic Neural Stem Cells Leads to Development of Tuberous Sclerosis Complex-Associated Lesions

(2011) Laura Magri et al.   Cell Stem Cell

Recent advances in understanding the neural bases of autism spectrum disorder

(2011) James C. McPartland et al.   CURRENT OPINION IN PEDIATRICS

Tsc1 mutant neural stem/progenitor cells exhibit migration deficits and give rise to subependymal lesions in the lateral ventricle

(2011) J. Zhou et al.   GENES & DEVELOPMENT

Autism spectrum disorders—A genetics review

(2011) Judith H Miles   GENETICS IN MEDICINE

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

(2011) Julie Gauthier et al.   HUMAN GENETICS

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

(2011) Anna Fassio et al.   HUMAN MOLECULAR GENETICS

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

(2011) C. P. Schaaf et al.   HUMAN MOLECULAR GENETICS

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

Histone H1 Recruitment by CHD8 Is Essential for Suppression of the Wnt- -Catenin Signaling Pathway

(2011) M. Nishiyama et al.   MOLECULAR AND CELLULAR BIOLOGY

Delayed functional maturation of human neuronal progenitor cells in vitro

(2011) G. Lepski et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Neocortical excitation/inhibition balance in information processing and social dysfunction

(2011) Ofer Yizhar et al.   NATURE

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

A role for glia in the progression of Rett’s syndrome

(2011) Daniel T. Lioy et al.   NATURE

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

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

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

Trithorax group proteins: switching genes on and keeping them active

(2011) Bernd Schuettengruber et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Deriving Excitatory Neurons of the Neocortex from Pluripotent Stem Cells

(2011) David V. Hansen et al.   NEURON

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

Brain connectivity and high functioning autism: A promising path of research that needs refined models, methodological convergence, and stronger behavioral links

(2011) Marlies E. Vissers et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function

(2011) M. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synaptic Pruning by Microglia Is Necessary for Normal Brain Development

(2011) R. C. Paolicelli et al.   SCIENCE

Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056

(2011) S. Jacquemont et al.   Science Translational Medicine

Genetics of autism spectrum disorders

(2011) Daniel H. Geschwind   TRENDS IN COGNITIVE SCIENCES

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

(2011) Ozlem Bozdagi et al.   Molecular Autism

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

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

Connecting Genes to Brain in the Autism Spectrum Disorders

(2010) Brett S. Abrahams et al.   ARCHIVES OF NEUROLOGY

Microglial Activation and Increased Microglial Density Observed in the Dorsolateral Prefrontal Cortex in Autism

(2010) John T. Morgan et al.   BIOLOGICAL PSYCHIATRY

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

Changes in Prefrontal Axons May Disrupt the Network in Autism

(2010) B. Zikopoulos et al.   JOURNAL OF NEUROSCIENCE

Hypersensitivity to mGluR5 and ERK1/2 Leads to Excessive Protein Synthesis in the Hippocampus of a Mouse Model of Fragile X Syndrome

(2010) E. K. Osterweil et al.   JOURNAL OF NEUROSCIENCE

Neuroligin-1 Deletion Results in Impaired Spatial Memory and Increased Repetitive Behavior

(2010) J. Blundell et al.   JOURNAL OF NEUROSCIENCE

Exogenous Brain-Derived Neurotrophic Factor Rescues Synaptic Dysfunction in Mecp2-Null Mice

(2010) D. D. Kline et al.   JOURNAL OF NEUROSCIENCE

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

(2010) Dalila Pinto et al.   NATURE

Neurogenic radial glia in the outer subventricular zone of human neocortex

(2010) David V. Hansen et al.   NATURE

Human POGZ modulates dissociation of HP1α from mitotic chromosome arms through Aurora B activation

(2010) Ryu-Suke Nozawa et al.   NATURE CELL BIOLOGY

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

(2010) Simone Berkel et al.   NATURE GENETICS

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

The Challenge of Translation in Social Neuroscience: A Review of Oxytocin, Vasopressin, and Affiliative Behavior

(2010) Thomas R. Insel   NEURON

The neurobiology of repetitive behavior: Of mice…

(2010) Marieke Langen et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

The neurobiology of repetitive behavior: …and men

(2010) Marieke Langen et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

(2010) F. Bedogni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders

(2010) Dan Ehninger et al.   TRENDS IN MOLECULAR MEDICINE

Advances in Autism

(2009) Daniel H. Geschwind   Annual Review of Medicine

Decreased GABAAreceptors and benzodiazepine binding sites in the anterior cingulate cortex in autism

(2009) A. Oblak et al.   Autism Research

Decreased GAD65 mRNA levels in select subpopulations of neurons in the cerebellar dentate nuclei in autism: an in situ hybridization study

(2009) Jane Yip et al.   Autism Research

Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders

(2009) Jeffrey J. Hutsler et al.   BRAIN RESEARCH

Abnormal Behavior in a Chromosome- Engineered Mouse Model for Human 15q11-13 Duplication Seen in Autism

(2009) Jin Nakatani et al.   CELL

Oxytocin and the neural mechanisms regulating social cognition and affiliative behavior

(2009) Heather E. Ross et al.   FRONTIERS IN NEUROENDOCRINOLOGY

Pharmacological Inhibition of mTORC1 Suppresses Anatomical, Cellular, and Behavioral Abnormalities in Neural-Specific Pten Knock-Out Mice

(2009) J. Zhou et al.   JOURNAL OF NEUROSCIENCE

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

(2009) Joseph T. Glessner et al.   NATURE

Repetitive Self-Grooming Behavior in the BTBR Mouse Model of Autism is Blocked by the mGluR5 Antagonist MPEP

(2009) Jill L Silverman et al.   NEUROPSYCHOPHARMACOLOGY

Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice

(2009) Daniela Tropea et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mouse neurexin-1  deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments

(2009) M. R. Etherton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes

(2009) Maja Bucan et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Familial aggregation of quantitative autistic traits in multiplex versus simplex autism

(2008) Yamini V. Virkud et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Communication Between the Synapse and the Nucleus in Neuronal Development, Plasticity, and Disease

(2008) Sonia Cohen et al.   Annual Review of Cell and Developmental Biology

Minimal aberrant behavioral phenotypes of neuroligin-3 R451C knockin mice

(2008) Kathryn K. Chadman et al.   Autism Research

Autism: Many Genes, Common Pathways?

(2008) Daniel H. Geschwind   CELL

The Fragile X Syndrome Protein Represses Activity-Dependent Translation through CYFIP1, a New 4E-BP

(2008) Ilaria Napoli et al.   CELL

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE

Advances in autism genetics: on the threshold of a new neurobiology

(2008) Brett S. Abrahams et al.   NATURE REVIEWS GENETICS

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

(2008) Femke M.S. de Vrij et al.   NEUROBIOLOGY OF DISEASE

Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function

(2008) Gary J. Bassell et al.   NEURON

From Synapse to Nucleus: Calcium-Dependent Gene Transcription in the Control of Synapse Development and Function

(2008) Paul L. Greer et al.   NEURON

Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism

(2008) S. Jamain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE

Neuroanatomy of autism

(2008) David G. Amaral et al.   TRENDS IN NEUROSCIENCES

E/I balance and GABAA receptor plasticity

(2008) Jean-Marc Fritschy   Frontiers in Molecular Neuroscience

Altered excitatory-inhibitory balance in the NMDA-hypofunction model of schizophrenia

(2008) Colin Kehrer   Frontiers in Molecular Neuroscience

IncreasedGAD67 mRNA expression in cerebellar interneurons in autism: Implications for Purkinje cell dysfunction

(2007) Jane Yip et al.   JOURNAL OF NEUROSCIENCE RESEARCH