From the genetic architecture to synaptic plasticity in autism spectrum disorder

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

(2015) Harrison W. Gabel et al.   NATURE

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

The idiosyncratic brain: distortion of spontaneous connectivity patterns in autism spectrum disorder

(2015) Avital Hahamy et al.   NATURE NEUROSCIENCE

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

Familial Recurrence of Autism Spectrum Disorder: Evaluating Genetic and Environmental Contributions

(2014) Neil Risch et al.   AMERICAN JOURNAL OF PSYCHIATRY

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

The Familial Risk of Autism

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

Cytokine aberrations in autism spectrum disorder: a systematic review and meta-analysis

(2014) A Masi et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission

(2014) T. Karayannis 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

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

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

Large-scale genomics unveils the genetic architecture of psychiatric disorders

(2014) Jacob Gratten et al.   NATURE NEUROSCIENCE

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

(2014) Michael Ronemus et al.   NATURE REVIEWS GENETICS

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

(2014) Shafali S. Jeste et al.   Nature Reviews Neurology

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

(2014) Guomei Tang et al.   NEURON

Targeted Combinatorial Alternative Splicing Generates Brain Region-Specific Repertoires of Neurexins

(2014) Dietmar Schreiner et al.   NEURON

Patches of Disorganization in the Neocortex of Children with Autism

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

A de novo convergence of autism genetics and molecular neuroscience

(2014) Niklas Krumm et al.   TRENDS IN NEUROSCIENCES

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

(2014) Claire S. Leblond et al.   PLoS Genetics

The serotonin-N-acetylserotonin–melatonin pathway as a biomarker for autism spectrum disorders

(2014) C Pagan et al.   Translational Psychiatry

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetic Landscapes of Autism Spectrum Disorders

(2013) Guillaume Huguet et al.   Annual Review of Genomics and Human Genetics

Adjusting Head Circumference for Covariates in Autism: Clinical Correlates of a Highly Heritable Continuous Trait

(2013) Pauline Chaste et al.   BIOLOGICAL PSYCHIATRY

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

Severe Multisensory Speech Integration Deficits in High-Functioning School-Aged Children with Autism Spectrum Disorder (ASD) and Their Resolution During Early Adolescence

(2013) John J. Foxe et al.   CEREBRAL CORTEX

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

Drosophila Neuroligin 4 Regulates Sleep through Modulating GABA Transmission

(2013) Y. Li et al.   JOURNAL OF NEUROSCIENCE

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

(2013)   LANCET

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

(2013) Andres Moreno-De-Luca et al.   LANCET NEUROLOGY

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

(2013) C Toma et al.   MOLECULAR PSYCHIATRY

Topoisomerases facilitate transcription of long genes linked to autism

(2013) Ian F. King et al.   NATURE

Structural and molecular interrogation of intact biological systems

(2013) Kwanghun Chung et al.   NATURE

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

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

(2013) S Hong Lee et al.   NATURE GENETICS

Progress toward treatments for synaptic defects in autism

(2013) Richard Delorme et al.   NATURE MEDICINE

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

(2013) Elaine T. Lim et al.   NEURON

CYFIP1 Coordinates mRNA Translation and Cytoskeleton Remodeling to Ensure Proper Dendritic Spine Formation

(2013) Silvia De Rubeis et al.   NEURON

The Dynamic Synapse

(2013) Daniel Choquet et al.   NEURON

Neuroligin-1 links neuronal activity to sleep-wake regulation

(2013) J. El Helou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Can We Measure Autism?

(2013) I. S. Kohane et al.   Science Translational Medicine

The FMRP regulon: from targets to disease convergence

(2013) Esperanza Fernández et al.   Frontiers in Neuroscience

SHANK1 Deletions in Males with Autism Spectrum Disorder

(2012) Daisuke Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Functional Consequences of Mutations in Postsynaptic Scaffolding Proteins and Relevance to Psychiatric Disorders

(2012) Jonathan T. Ting et al.   Annual Review of Neuroscience

Autism Spectrum Disorders and Autisticlike Traits

(2012) Sebastian Lundström   ARCHIVES OF GENERAL PSYCHIATRY

Global Prevalence of Autism and Other Pervasive Developmental Disorders

(2012) Mayada Elsabbagh et al.   Autism Research

HDAC4 Governs a Transcriptional Program Essential for Synaptic Plasticity and Memory

(2012) Richard Sando et al.   CELL

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

(2012) Nien-Pei Tsai et al.   CELL

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

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

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice

(2012) M. Yang et al.   JOURNAL OF NEUROSCIENCE

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

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

(2012) Hyejung Won et al.   NATURE

Exaggerated translation causes synaptic and behavioural aberrations associated with autism

(2012) Emanuela Santini et al.   NATURE

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

(2012) Wenqing Fu et al.   NATURE

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

(2012) Benjamin M. Neale 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

Neuroligin-1–dependent competition regulates cortical synaptogenesis and synapse number

(2012) Hyung-Bae Kwon et al.   NATURE NEUROSCIENCE

5-hmC in the brain is abundant in synaptic genes and shows differences at the exon-intron boundary

(2012) Tarang Khare et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Transsynaptic Signaling by Activity-Dependent Cleavage of Neuroligin-1

(2012) Rui T. Peixoto et al.   NEURON

Activity-Dependent Proteolytic Cleavage of Neuroligin-1

(2012) Kunimichi Suzuki et al.   NEURON

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Disease Modeling Using Embryonic Stem Cells: MeCP2 Regulates Nuclear Size and RNA Synthesis in Neurons

(2012) Morteza Yazdani et al.   STEM CELLS

SynGAP isoforms exert opposing effects on synaptic strength

(2012) A.C. McMahon et al.   Nature Communications

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

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

(2012) Lambertus Klei et al.   Molecular Autism

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

The Role of MeCP2 in the Brain

(2011) Jacky Guy et al.   Annual Review of Cell and Developmental Biology

Too Many Cooks? Intrinsic and Synaptic Homeostatic Mechanisms in Cortical Circuit Refinement

(2011) Gina Turrigiano   Annual Review of Neuroscience

Evidence That Autistic Traits Show the Same Etiology in the General Population and at the Quantitative Extremes (5%, 2.5%, and 1%)

(2011) Elise B. Robinson   ARCHIVES OF GENERAL PSYCHIATRY

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

(2011) Joachim Hallmayer   ARCHIVES OF GENERAL PSYCHIATRY

Behavioral profiles of mouse models for autism spectrum disorders

(2011) Elodie Ey et al.   Autism Research

SAM68 Regulates Neuronal Activity-Dependent Alternative Splicing of Neurexin-1

(2011) Takatoshi Iijima et al.   CELL

Homeostatic synaptic plasticity: from single synapses to neural circuits

(2011) Nathalia Vitureira et al.   CURRENT OPINION IN NEUROBIOLOGY

What Can We Learn about Autism from Studying Fragile X Syndrome?

(2011) Dejan B. Budimirovic et al.   DEVELOPMENTAL NEUROSCIENCE

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

(2011) Xiaoming Wang et al.   HUMAN MOLECULAR GENETICS

SHANK3 mutations identified in autism lead to modification of dendritic spine morphology via an actin-dependent mechanism

(2011) C M Durand et al.   MOLECULAR PSYCHIATRY

The power of autism

(2011) Laurent Mottron   NATURE

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

Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

(2011) João Peça et al.   NATURE

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

Genome-Wide Activity-Dependent MeCP2 Phosphorylation Regulates Nervous System Development and Function

(2011) Sonia Cohen et al.   NEURON

Sensory Processing in Autism: A Review of Neurophysiologic Findings

(2011) ELYSA J. MARCO et al.   PEDIATRIC RESEARCH

The Quantitative Nature of Autistic Social Impairment

(2011) JOHN N. CONSTANTINO   PEDIATRIC RESEARCH

Communication Impairments in Mice Lacking Shank1: Reduced Levels of Ultrasonic Vocalizations and Scent Marking Behavior

(2011) Markus Wöhr et al.   PLoS One

Autistic-like traits and their association with mental health problems in two nationwide twin cohorts of children and adults

(2011) S. Lundström et al.   PSYCHOLOGICAL MEDICINE

Postsynaptic ProSAP/Shank scaffolds in the cross-hair of synaptopathies

(2011) Andreas M. Grabrucker et al.   TRENDS IN CELL BIOLOGY

The Postsynaptic Organization of Synapses

(2011) M. Sheng et al.   Cold Spring Harbor Perspectives in Biology

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

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

Ubiquitination in Postsynaptic Function and Plasticity

(2010) Angela M. Mabb et al.   Annual Review of Cell and Developmental Biology

Protein Homeostasis and the Phenotypic Manifestation of Genetic Diversity: Principles and Mechanisms

(2010) Daniel F. Jarosz et al.   Annual Review of Genetics

Sociability and motor functions in Shank1 mutant mice

(2010) Jill L. Silverman et al.   BRAIN RESEARCH

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

(2010) Catalina Betancur   BRAIN RESEARCH

Hippocampal synaptic metaplasticity requires the activation of NR2B-containing NMDA receptors

(2010) Qian Yang et al.   BRAIN RESEARCH BULLETIN

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

A twin study of autism symptoms in Sweden

(2010) A Ronald et al.   MOLECULAR PSYCHIATRY

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Local Presynaptic Activity Gates Homeostatic Changes in Presynaptic Function Driven by Dendritic BDNF Synthesis

(2010) Sonya K. Jakawich et al.   NEURON

Unraveling Mechanisms of Homeostatic Synaptic Plasticity

(2010) Karine Pozo et al.   NEURON

Neural signatures of autism

(2010) M. D. Kaiser et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

N-acetylserotonin activates TrkB receptor in a circadian rhythm

(2010) Sung-Wuk Jang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome

(2009) Melissa B. Ramocki et al.   ANNALS OF NEUROLOGY

Dendritic signalling and homeostatic adaptation

(2009) Lily MY Yu et al.   CURRENT OPINION IN NEUROBIOLOGY

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

(2009) N. Le Meur et al.   JOURNAL OF MEDICAL GENETICS

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

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

(2009) Joseph T. Glessner et al.   NATURE

Molecular mechanisms of mTOR-mediated translational control

(2009) Xiaoju Max Ma et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Tracking rates of transcription and splicing in vivo

(2009) M Behfar Ardehali et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Widespread Changes in Synaptic Markers as a Function of Sleep and Wakefulness in Drosophila

(2009) Giorgio F. Gilestro et al.   SCIENCE

More than synaptic plasticity: role of nonsynaptic plasticity in learning and memory

(2009) Riccardo Mozzachiodi et al.   TRENDS IN NEUROSCIENCES

Genetic disorders associated with macrocephaly

(2008) Charles A. Williams et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

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

(2008) Ilaria Napoli et al.   CELL

Smaller Dendritic Spines, Weaker Synaptic Transmission, but Enhanced Spatial Learning in Mice Lacking Shank1

(2008) A. Y. Hung et al.   JOURNAL OF NEUROSCIENCE

Failure of neuronal homeostasis results in common neuropsychiatric phenotypes

(2008) Melissa B. Ramocki et al.   NATURE

Neuroligins and neurexins link synaptic function to cognitive disease

(2008) Thomas C. Südhof   NATURE

Metaplasticity: tuning synapses and networks for plasticity

(2008) Wickliffe C. Abraham   NATURE REVIEWS NEUROSCIENCE

MEF2C, a transcription factor that facilitates learning and memory by negative regulation of synapse numbers and function

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