Delineating the Common Biological Pathways Perturbed by ASD’s Genetic Etiology: Lessons from Network-Based Studies

GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia

(2017) Naveen Khanzada et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Translational use of event-related potentials to assess circuit integrity in ASD

(2017) Meera E. Modi et al.   Nature Reviews Neurology

High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder

(2017) Galina Schmunk 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

Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder

(2016) Hyopil Kim et al.   Behavioral and Brain Functions

Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects

(2016) Fengping Dong et al.   HUMAN MOLECULAR GENETICS

Shank Modulates Postsynaptic Wnt Signaling to Regulate Synaptic Development

(2016) K. P. Harris et al.   JOURNAL OF NEUROSCIENCE

Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling

(2016) Omer Durak et al.   NATURE NEUROSCIENCE

How Wnt Signaling Builds the Brain: Bridging Development and Disease

(2016) Rivka Noelanders et al.   NEUROSCIENTIST

The Ca 2+ /Calmodulin/CaMKK2 Axis: Nature's Metabolic CaMshaft

(2016) Kathrina L. Marcelo et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Synaptic Wnt/GSK3βSignaling Hub in Autism

(2016) Mario O. Caracci et al.   NEURAL PLASTICITY

Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD)

(2016) Asher Ornoy et al.   Frontiers in Neuroscience

Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling

(2016) Ya Wen et al.   PLoS One

Quantitative Proteomics Analysis of CaMKII Phosphorylation and the CaMKII Interactome in the Mouse Forebrain

(2015) Anthony J. Baucum et al.   ACS Chemical Neuroscience

The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology

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

Coordinated Spine Pruning and Maturation Mediated by Inter-Spine Competition for Cadherin/Catenin Complexes

(2015) Wen-Jie Bian et al.   CELL

Hypothalamic radial glia function as self-renewing neural progenitors in the absence of Wnt/β-catenin signaling

(2015) Robert N. Duncan et al.   DEVELOPMENT

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

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

Whole-genome sequencing of quartet families with autism spectrum disorder

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

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

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

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

Autistic-Like Traits and Cerebellar Dysfunction in Purkinje Cell PTEN Knock-Out Mice

(2015) Dario Cupolillo et al.   NEUROPSYCHOPHARMACOLOGY

Autism spectrum disorder in tuberous sclerosis complex: searching for risk markers

(2015) Aglaia Vignoli et al.   Orphanet Journal of Rare Diseases

Comparison of human cell signaling pathway databases—evolution, drawbacks and challenges

(2015) Saikat Chowdhury et al.   Database-The Journal of Biological Databases and Curation

Elevated CaMKIIα and Hyperphosphorylation of Homer Mediate Circuit Dysfunction in a Fragile X Syndrome Mouse Model

(2015) Weirui Guo et al.   Cell Reports

Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1

(2014) Ellen Plasschaert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders

(2014) Regina Waltes et al.   HUMAN GENETICS

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

(2014) J Ellegood et al.   MOLECULAR PSYCHIATRY

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

CaMKII: Claiming Center Stage in Postsynaptic Function and Organization

(2014) Johannes W. Hell   NEURON

Patches of Disorganization in the Neocortex of Children with Autism

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

Differences in HPA-axis and heart rate responsiveness to psychosocial stress in children with autism spectrum disorders with and without co-morbid anxiety

(2014) Matthew J. Hollocks et al.   PSYCHONEUROENDOCRINOLOGY

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

(2014) Dexter Hadley et al.   Nature Communications

Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice

(2014) Xiaoming Wang et al.   Molecular Autism

mTOR signaling and its roles in normal and abnormal brain development

(2014) Nobuyuki Takei et al.   Frontiers in Molecular Neuroscience

Glycogen Synthase Kinase-3 Inhibitors Reverse Deficits in Long-term Potentiation and Cognition in Fragile X Mice

(2013) Aimee V. Franklin et al.   BIOLOGICAL PSYCHIATRY

Chronic Metabotropic Glutamate Receptor 5 Inhibition Corrects Local Alterations of Brain Activity and Improves Cognitive Performance in Fragile X Mice

(2013) Aubin Michalon et al.   BIOLOGICAL PSYCHIATRY

Rapamycin improves sociability in the BTBR T+Itpr3tf/J mouse model of autism spectrum disorders

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

Visualizing CaMKII and CaM activity: a paradigm of compartmentalized signaling

(2013) Julie Bossuyt et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Axonal Translation of  -Catenin Regulates Synaptic Vesicle Dynamics

(2013) A. M. Taylor et al.   JOURNAL OF NEUROSCIENCE

Structural and molecular interrogation of intact biological systems

(2013) Kwanghun Chung et al.   NATURE

Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development

(2013) Andreea S. Pop et al.   PSYCHOPHARMACOLOGY

High-Throughput Genetic Screen for Synaptogenic Factors: Identification of LRP6 as Critical for Excitatory Synapse Development

(2013) Kamal Sharma et al.   Cell Reports

Evidence for differential alternative splicing in blood of young boys with autism spectrum disorders

(2013) Boryana S Stamova et al.   Molecular Autism

Fetal Brain mTOR Signaling Activation in Tuberous Sclerosis Complex

(2012) Victoria Tsai et al.   CEREBRAL CORTEX

Impaired induction of long-term potentiation-like plasticity in patients with high-functioning autism and Asperger syndrome

(2012) NIKOLAI H JUNG et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Altered mTOR signaling and enhanced CYFIP2 expression levels in subjects with fragile X syndrome

(2012) C. A. Hoeffer et al.   GENES BRAIN AND BEHAVIOR

Substrate-selective and Calcium-independent Activation of CaMKII by α-Actinin

(2012) Nidhi Jalan-Sakrikar et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2012) Christelle Golzio 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

Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex

(2012) Froylan Calderon de Anda et al.   NATURE NEUROSCIENCE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Wnt Signaling in Cancer

(2012) P. Polakis   Cold Spring Harbor Perspectives in Biology

Rapamycin reverses impaired social interaction in mouse models of tuberous sclerosis complex

(2012) Atsushi Sato et al.   Nature Communications

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

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

NGF, Brain and Behavioral Plasticity

(2012) Alessandra Berry et al.   NEURAL PLASTICITY

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rett Syndrome

(2011) Alan K. Percy   ARCHIVES OF NEUROLOGY

Wnt Signaling Has Opposing Roles in the Developing and the Adult Brain That Are Modulated by Hipk1

(2011) Cinzia Marinaro et al.   CEREBRAL CORTEX

Wnt signaling during synaptic development and plasticity

(2011) Vivian Budnik et al.   CURRENT OPINION IN NEUROBIOLOGY

Inhibition of GSK3  improves hippocampus-dependent learning and rescues neurogenesis in a mouse model of fragile X syndrome

(2011) W. Guo et al.   HUMAN MOLECULAR GENETICS

Synaptic Wnt signaling—a contributor to major psychiatric disorders?

(2011) Nathan D. Okerlund et al.   Journal of Neurodevelopmental Disorders

QTL replication and targeted association highlight the nerve growth factor gene for nonverbal communication deficits in autism spectrum disorders

(2011) A T-H Lu et al.   MOLECULAR PSYCHIATRY

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

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

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

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Glycogen Synthase Kinase-3: A Promising Therapeutic Target for Fragile X Syndrome

(2011) Marjelo A. Mines et al.   Frontiers in Molecular Neuroscience

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

(2010) Kim L. McBride et al.   Autism Research

An Updated Overview on Wnt Signaling Pathways

(2010) Tata Purushothama Rao et al.   CIRCULATION RESEARCH

Munc18-1 as a key regulator of neurosecretion

(2010) Gayoung A. Han et al.   JOURNAL OF NEUROCHEMISTRY

Fragile X mice: Reduced long-term potentiation and N-Methyl-D-Aspartate receptor-mediated neurotransmission in dentate gyrus

(2010) Sung Hwan Yun et al.   JOURNAL OF NEUROSCIENCE RESEARCH

GSK3 Influences Social Preference and Anxiety-Related Behaviors during Social Interaction in a Mouse Model of Fragile X Syndrome and Autism

(2010) Marjelo A. Mines et al.   PLoS One

Wnt Signaling Regulates Symmetry of Division of Neural Stem Cells in the Adult Brain and in Response to Injury

(2010) David Piccin et al.   STEM CELLS

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

(2010) Randi Hagerman et al.   Molecular Autism

Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome

(2009) B. Chakrabarti et al.   Autism Research

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

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

Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases

(2009) Bryan T. MacDonald et al.   DEVELOPMENTAL CELL

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome

(2009) E Berry-Kravis et al.   JOURNAL OF MEDICAL GENETICS

CaMKII phosphorylation of the GABAAreceptor: receptor subtype- and synapse-specific modulation

(2009) Catriona M. Houston et al.   JOURNAL OF PHYSIOLOGY-LONDON

Autism: Many Genes, Common Pathways?

(2008) Daniel H. Geschwind   CELL

Open-Label Treatment Trial of Lithium to Target the Underlying Defect in Fragile X Syndrome

(2008) Elizabeth Berry-Kravis et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

Roles of Calcium-Stimulated Adenylyl Cyclase and Calmodulin-Dependent Protein Kinase IV in the Regulation of FMRP by Group I Metabotropic Glutamate Receptors

(2008) H. Wang et al.   JOURNAL OF NEUROSCIENCE

Elevated glycogen synthase kinase-3 activity in Fragile X mice: Key metabolic regulator with evidence for treatment potential

(2008) Wenzhong William Min et al.   NEUROPHARMACOLOGY

AutDB: a gene reference resource for autism research

(2008) Saumyendra N. Basu et al.   NUCLEIC ACIDS RESEARCH