Autism spectrum disorder: insights into convergent mechanisms from transcriptomics

Total RNA Sequencing of Rett Syndrome Autopsy Samples Identifies the M4Muscarinic Receptor as a Novel Therapeutic Target

(2018) Rocco G. Gogliotti et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Activity-dependent aberrations in gene expression and alternative splicing in a mouse model of Rett syndrome

(2018) Sivan Osenberg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

(2018) Michael J. Gandal et al.   SCIENCE

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome

(2018) Elena G. Bochukova et al.   Cell Reports

Rett syndrome: a neurological disorder with metabolic components

(2018) Stephanie M. Kyle et al.   Open Biology

Exploring the Complexity of Cortical Development Using Single-Cell Transcriptomics

(2018) Hyobin Jeong et al.   Frontiers in Neuroscience

Prenatal fever and autism risk

(2017) M Hornig et al.   MOLECULAR PSYCHIATRY

Cell diversity and network dynamics in photosensitive human brain organoids

(2017) Giorgia Quadrato et al.   NATURE

A novel role of fragile X mental retardation protein in pre-mRNA alternative splicing through RNA-binding protein 14

(2017) Lin-Tao Zhou et al.   NEUROSCIENCE

Integrative genomic analyses for identification and prioritization of long non-coding RNAs associated with autism

(2017) Brian L. Gudenas et al.   PLoS One

Activity-dependent spatially localized miRNA maturation in neuronal dendrites

(2017) Sivakumar Sambandan et al.   SCIENCE

Microexons: discovery, regulation, and function

(2017) Dmytro Ustianenko et al.   Wiley Interdisciplinary Reviews-RNA

Box C/D small nucleolar RNA genes and the Prader-Willi syndrome: a complex interplay

(2017) Jérôme Cavaillé   Wiley Interdisciplinary Reviews-RNA

Altered expression of histamine signaling genes in autism spectrum disorder

(2017) C Wright et al.   Translational Psychiatry

Dishing out mini-brains: Current progress and future prospects in brain organoid research

(2016) Iva Kelava et al.   DEVELOPMENTAL BIOLOGY

Wnt signaling networks in autism spectrum disorder and intellectual disability

(2016) Vickie Kwan et al.   Journal of Neurodevelopmental Disorders

Misregulation of an Activity-Dependent Splicing Network as a Common Mechanism Underlying Autism Spectrum Disorders

(2016) Mathieu Quesnel-Vallières et al.   MOLECULAR CELL

Evolution of Osteocrin as an activity-regulated factor in the primate brain

(2016) Bulent Ataman et al.   NATURE

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

(2016) Neelroop N. Parikshak et al.   NATURE

Advancing the understanding of autism disease mechanisms through genetics

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

Genome-wide, integrative analysis implicates microRNA dysregulation in autism spectrum disorder

(2016) Ye E Wu et al.   NATURE NEUROSCIENCE

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder

(2016) Arjun Krishnan et al.   NATURE NEUROSCIENCE

The neurogenetics of alternative splicing

(2016) Celine K. Vuong et al.   NATURE REVIEWS NEUROSCIENCE

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia

(2016) Atsushi Takata et al.   NEURON

Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops

(2016) Caitlin Mullins et al.   NEURON

Targeted Intron Retention and Excision for Rapid Gene Regulation in Response to Neuronal Activity

(2016) Oriane Mauger et al.   NEURON

Cytoplasmic Rbfox1 Regulates the Expression of Synaptic and Autism-Related Genes

(2016) Ji-Ann Lee et al.   NEURON

The emerging roles of MicroRNAs in autism spectrum disorders

(2016) Julien Fregeac et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

RNA splicing is a primary link between genetic variation and disease

(2016) Yang I. Li et al.   SCIENCE

Striatal Circuits as a Common Node for Autism Pathophysiology

(2016) Marc V. Fuccillo   Frontiers in Neuroscience

Autism spectrum disorder in Prader-Willi syndrome: A systematic review

(2015) Jeffrey A. Bennett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model

(2015) Jacob Ellegood et al.   Autism Research

Maternal hospitalization with infection during pregnancy and risk of autism spectrum disorders

(2015) Brian K. Lee et al.   BRAIN BEHAVIOR AND IMMUNITY

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

(2015) Jessica Mariani et al.   CELL

The Long Noncoding RNA Pnky Regulates Neuronal Differentiation of Embryonic and Postnatal Neural Stem Cells

(2015) Alexander D. Ramos et al.   Cell Stem Cell

Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development

(2015) Mathieu Quesnel-Vallières et al.   GENES & DEVELOPMENT

Specific Regional and Age-Related Small Noncoding RNA Expression Patterns Within Superior Temporal Gyrus of Typical Human Brains Are Less Distinct in Autism Brains

(2015) Boryana Stamova et al.   JOURNAL OF CHILD NEUROLOGY

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

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

From the genetic architecture to synaptic plasticity in autism spectrum disorder

(2015) Thomas Bourgeron   NATURE REVIEWS NEUROSCIENCE

Critical Role of Histone Turnover in Neuronal Transcription and Plasticity

(2015) Ian Maze et al.   NEURON

Alternative Splicing in the Mammalian Nervous System: Recent Insights into Mechanisms and Functional Roles

(2015) Bushra Raj et al.   NEURON

Excitatory/Inhibitory Balance and Circuit Homeostasis in Autism Spectrum Disorders

(2015) Sacha B. Nelson et al.   NEURON

A 3′ untranslated region variant inFMR1eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR

(2015) Joshua A. Suhl et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) Emma Colvert et al.   JAMA Psychiatry

Atypical miRNA expression in temporal cortex associated with dysregulation of immune, cell cycle, and other pathways in autism spectrum disorders

(2015) Bradley P. Ander et al.   Molecular Autism

Molecular Mechanisms Regulating the Defects in Fragile X Syndrome Neurons Derived from Human Pluripotent Stem Cells

(2015) Tomer Halevy et al.   Stem Cell Reports

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

A Highly Conserved Program of Neuronal Microexons Is Misregulated in Autistic Brains

(2014) Manuel Irimia et al.   CELL

LSD1 Neurospecific Alternative Splicing Controls Neuronal Excitability in Mouse Models of Epilepsy

(2014) Francesco Rusconi et al.   CEREBRAL CORTEX

The discovery of integrated gene networks for autism and related disorders

(2014) Fereydoun Hormozdiari et al.   GENOME RESEARCH

RBFOX and PTBP1 proteins regulate the alternative splicing of micro-exons in human brain transcripts

(2014) Yang I. Li et al.   GENOME RESEARCH

The Familial Risk of Autism

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

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The evolution of lncRNA repertoires and expression patterns in tetrapods

(2014) Anamaria Necsulea et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Most genetic risk for autism resides with common variation

(2014) Trent Gaugler et al.   NATURE GENETICS

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

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

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

(2014) Simone Gupta et al.   Nature Communications

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism

(2014) Roser Corominas et al.   Nature Communications

HITS-CLIP and Integrative Modeling Define the Rbfox Splicing-Regulatory Network Linked to Brain Development and Autism

(2014) Sebastien M. Weyn-Vanhentenryck et al.   Cell Reports

Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1

(2014) Noelle D Germain et al.   Molecular Autism

RNA Protein Interaction in Neurons

(2013) Robert B. Darnell   Annual Review of Neuroscience

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

(2013)   LANCET

A compendium of RNA-binding motifs for decoding gene regulation

(2013) Debashish Ray et al.   NATURE

Activity-dependent neuronal signalling and autism spectrum disorder

(2013) Daniel H. Ebert et al.   NATURE

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

(2013) Matthew J Lyst et al.   NATURE NEUROSCIENCE

RNA in unexpected places: long non-coding RNA functions in diverse cellular contexts

(2013) Sarah Geisler et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges

(2013) Michael T Lovci et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

miRBase: annotating high confidence microRNAs using deep sequencing data

(2013) Ana Kozomara et al.   NUCLEIC ACIDS RESEARCH

miR-9: a versatile regulator of neurogenesis

(2013) Marion Coolen et al.   Frontiers in Cellular Neuroscience

Functional role of ambient GABA in refining neuronal circuits early in postnatal development

(2013) Giada Cellot et al.   Frontiers in Neural Circuits

Recurrence of Autism Spectrum Disorders in Full- and Half-Siblings and Trends Over Time

(2013) Therese K. Grønborg et al.   JAMA Pediatrics

Expression of non-protein-coding antisense RNAs in genomic regions related to autism spectrum disorders

(2013) Dmitry Velmeshev et al.   Molecular Autism

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

(2013) Brett S Abrahams et al.   Molecular Autism

The FMRP regulon: from targets to disease convergence

(2013) Esperanza Fernández et al.   Frontiers in Neuroscience

Rare inheritedA2BP1deletion in a proband with autism and developmental hemiparesis

(2012) L.K. Davis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The GENCODE v7 catalog of human long noncoding RNAs: Analysis of their gene structure, evolution, and expression

(2012) T. Derrien et al.   GENOME RESEARCH

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

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

Aberrant Expression of Long Noncoding RNAs in Autistic Brain

(2012) Mark N. Ziats et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

A Noncoding RNA Antisense to Moesin at 5p14.1 in Autism

(2012) T. Kerin et al.   Science Translational Medicine

Prevalence of Autism Spectrum Disorders in a Total Population Sample

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

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

(2011) Takatoshi Iijima et al.   CELL

Human long non-coding RNAs promote pluripotency and neuronal differentiation by association with chromatin modifiers and transcription factors

(2011) Shi-Yan Ng et al.   EMBO JOURNAL

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

The splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain

(2011) Lauren T Gehman et al.   NATURE GENETICS

miR-124a is required for hippocampal axogenesis and retinal cone survival through Lhx2 suppression

(2011) Rikako Sanuki et al.   NATURE NEUROSCIENCE

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

(2011) Sonia Cohen et al.   NEURON

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome

(2010) Paul Ashwood et al.   BRAIN BEHAVIOR AND IMMUNITY

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

(2009) Christel Depienne et al.   BIOLOGICAL PSYCHIATRY

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

(2009) Jin Nakatani et al.   CELL

MicroRNAs in brain development and physiology

(2009) Marion Coolen et al.   CURRENT OPINION IN NEUROBIOLOGY

Long nuclear-retained non-coding RNAs and allele-specific higher-order chromatin organization at imprinted snoRNA gene arrays

(2009) P. Vitali et al.   JOURNAL OF CELL SCIENCE

Elevated immune response in the brain of autistic patients

(2009) Xiaohong Li et al.   JOURNAL OF NEUROIMMUNOLOGY

Wnt Signaling in Neural Circuit Assembly

(2008) Patricia C. Salinas et al.   Annual Review of Neuroscience

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

Alternative isoform regulation in human tissue transcriptomes

(2008) Eric T. Wang et al.   NATURE

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS

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

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

Immune transcriptome alterations in the temporal cortex of subjects with autism

(2008) Krassimira Garbett et al.   NEUROBIOLOGY OF DISEASE

Heterogeneous dysregulation of microRNAs across the autism spectrum

(2008) Kawther Abu-Elneel et al.   NEUROGENETICS

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer

(2008) Marie-Cécile Didiot et al.   NUCLEIC ACIDS RESEARCH

Neuroanatomy of autism

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

MicroRNA function in neuronal development, plasticity and disease

(2007) Roberto Fiore et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms