Using genetic findings in autism for the development of new pharmaceutical compounds

Systems-Based Discovery Advances Drug Development

(2013) S A Waldman et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Genetic causes of developmental disorders

(2013) Jacob A.S. Vorstman et al.   CURRENT OPINION IN NEUROLOGY

Immunological and autoimmune considerations of Autism Spectrum Disorders

(2013) Benjamin Gesundheit et al.   JOURNAL OF AUTOIMMUNITY

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

Efficacy and safety of ustekinumab in patients with active psoriatic arthritis: 1 year results of the phase 3, multicentre, double-blind, placebo-controlled PSUMMIT 1 trial

(2013) Iain B McInnes et al.   LANCET

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

AKAPs integrate genetic findings for autism spectrum disorders

(2013) G Poelmans et al.   Translational Psychiatry

No evidence that common genetic risk variation is shared between schizophrenia and autism

(2012) Jacob A.S. Vorstman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Genes associated with autism spectrum disorder

(2012) Xiaohong Li et al.   BRAIN RESEARCH BULLETIN

Genetic architecture in autism spectrum disorder

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

PTEN signaling in autism spectrum disorders

(2012) Jing Zhou et al.   CURRENT OPINION IN NEUROBIOLOGY

Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1

(2012) KARIN S WALSH 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

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

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

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial

(2012) David Neal Franz et al.   LANCET

Peripheral and central inflammation in autism spectrum disorders

(2012) Amaicha Mara Depino   MOLECULAR AND CELLULAR NEUROSCIENCE

Translational approaches to the biology of Autism: false dawn or a new era?

(2012) C Ecker et al.   MOLECULAR PSYCHIATRY

The long-range interaction landscape of gene promoters

(2012) Amartya Sanyal 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

Synaptic scaffold evolution generated components of vertebrate cognitive complexity

(2012) Jess Nithianantharajah et al.   NATURE NEUROSCIENCE

EU-AIMS: a boost to autism research

(2012) Declan Murphy et al.   NATURE REVIEWS DRUG DISCOVERY

Genetic Removal of p70 S6 Kinase 1 Corrects Molecular, Synaptic, and Behavioral Phenotypes in Fragile X Syndrome Mice

(2012) Aditi Bhattacharya et al.   NEURON

From genes to cognition in tuberous sclerosis: Implications for mTOR inhibitor-based treatment approaches

(2012) Dan Ehninger   NEUROPHARMACOLOGY

AMPAKINE enhancement of social interaction in the BTBR mouse model of autism

(2012) J.L. Silverman et al.   NEUROPHARMACOLOGY

The Impact of MeCP2 Loss- or Gain-of-Function on Synaptic Plasticity

(2012) Elisa S Na et al.   NEUROPSYCHOPHARMACOLOGY

Family based association of GRIN2A and GRIN2B with Korean autism spectrum disorders

(2012) Hee Jeong Yoo et al.   NEUROSCIENCE LETTERS

Medications for Adolescents and Young Adults With Autism Spectrum Disorders: A Systematic Review

(2012) D. Dove et al.   PEDIATRICS

Neuregulin 1-ErbB4-PI3K signaling in schizophrenia and phosphoinositide 3-kinase-p110δ inhibition as a potential therapeutic strategy

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

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

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

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

Autism genetics: searching for specificity and convergence

(2012) Jamee M Berg et al.   GENOME BIOLOGY

Intranasal oxytocin versus placebo in the treatment of adults with autism spectrum disorders: a randomized controlled trial

(2012) Evdokia Anagnostou et al.   Molecular Autism

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

(2012) Lambertus Klei et al.   Molecular Autism

Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders

(2012) Tanjala T. Gipson et al.   NEURAL PLASTICITY

Matrix Metalloproteinases and Minocycline: Therapeutic Avenues for Fragile X Syndrome

(2012) Saul S. Siller et al.   NEURAL PLASTICITY

A randomised controlled trial of bumetanide in the treatment of autism in children

(2012) E Lemonnier et al.   Translational Psychiatry

Imaging-Genetics in Autism Spectrum Disorder: Advances, Translational Impact, and Future Directions

(2012) Stephanie H. Ameis et al.   Frontiers in Psychiatry

Experimental models of Rett syndrome based on Mecp2 dysfunction

(2011) Gaston Calfa et al.   EXPERIMENTAL BIOLOGY AND MEDICINE

Efficacy and safety of belimumab in patients with active systemic lupus erythematosus: a randomised, placebo-controlled, phase 3 trial

(2011) Sandra V Navarra et al.   LANCET

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

Evidence-based psychiatric genetics, AKA the false dichotomy between common and rare variant hypotheses

(2011) P M Visscher et al.   MOLECULAR PSYCHIATRY

AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome

(2011) Josien Levenga et al.   NEUROBIOLOGY OF DISEASE

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

(2011) A. L. Numis et al.   NEUROLOGY

Gene Regulatory Network Reconstruction Using Bayesian Networks, the Dantzig Selector, the Lasso and Their Meta-Analysis

(2011) Matthieu Vignes et al.   PLoS One

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

Synaptic Plasticity, a Symphony in GEF

(2010) Drew D. Kiraly et al.   ACS Chemical Neuroscience

A humanoid mouse model of autism

(2010) Toru Takumi   BRAIN & DEVELOPMENT

Do common variants play a role in risk for autism? Evidence and theoretical musings

(2010) Bernie Devlin 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

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

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

Increased BDNF levels and NTRK2 gene association suggest a disruption of BDNF/TrkB signaling in autism

(2010) C. T. Correia et al.   GENES BRAIN AND BEHAVIOR

Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

(2010) Xiaoxi Liu et al.   JOURNAL OF HUMAN GENETICS

Dysregulation of mTOR Signaling in Fragile X Syndrome

(2010) A. Sharma et al.   JOURNAL OF NEUROSCIENCE

A double hit implicates DIAPH3 as an autism risk gene

(2010) J A S Vorstman et al.   MOLECULAR PSYCHIATRY

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

(2010) Dalila Pinto et al.   NATURE

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

(2010) Simone Berkel et al.   NATURE GENETICS

Group 1 mGluR-Dependent Synaptic Long-Term Depression: Mechanisms and Implications for Circuitry and Disease

(2010) Christian Lüscher et al.   NEURON

Oxytocin receptor (OXTR) does not play a major role in the aetiology of autism: Genetic and molecular studies

(2010) Katherine E. Tansey et al.   NEUROSCIENCE LETTERS

Autism and oxytocin: New developments in translational approaches to therapeutics

(2010) Joshua J. Green et al.   Neurotherapeutics

Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report

(2010) Timothy Buie et al.   PEDIATRICS

Dissecting the Clinical Heterogeneity of Autism Spectrum Disorders through Defined Genotypes

(2010) Hilgo Bruining et al.   PLoS One

Early continuous inhibition of group 1 mGlu signaling partially rescues dendritic spine abnormalities in the Fmr1 knockout mouse model for fragile X syndrome

(2010) Tao Su et al.   PSYCHOPHARMACOLOGY

Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences

(2010) Jeremy Goecks et al.   GENOME BIOLOGY

Advances in Autism

(2009) Daniel H. Geschwind   Annual Review of Medicine

Novel evidence-based systemic lupus erythematosus responder index

(2009) Richard A. Furie et al.   ARTHRITIS AND RHEUMATISM

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

(2009) Simon G Gregory et al.   BMC Medicine

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

(2009) Jin Nakatani et al.   CELL

A synaptic trek to autism

(2009) Thomas Bourgeron   CURRENT OPINION IN NEUROBIOLOGY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

(2009) Joseph T. Glessner et al.   NATURE

A motor driving PTEN

(2009) Jing Zhou et al.   NATURE CELL BIOLOGY

Molecular mechanisms of mTOR-mediated translational control

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

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

Associations between the oxytocin receptor gene (OXTR) and affect, loneliness and intelligence in normal subjects

(2009) Michael J. Lucht et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Oxytocin, sexually dimorphic features of the social brain, and autism

(2009) Hidenori Yamasue et al.   PSYCHIATRY AND CLINICAL NEUROSCIENCES

Microsatellite Marker in Gamma - Aminobutyric Acid - A Receptor Beta 3 Subunit Gene and Autism Spectrum Disorders in Korean Trios

(2009) Hanik K. Yoo et al.   YONSEI MEDICAL JOURNAL

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

Disruption of Neurexin 1 Associated with Autism Spectrum Disorder

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

Novel de novo SHANK3 mutation in autistic patients

(2008) Julie Gauthier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Network pharmacology: the next paradigm in drug discovery

(2008) Andrew L Hopkins   Nature Chemical Biology

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

Genomic-scale prioritization of drug targets: the TDR Targets database

(2008) Fernán Agüero et al.   NATURE REVIEWS DRUG DISCOVERY

Neuregulin 1 in neural development, synaptic plasticity and schizophrenia

(2008) Lin Mei et al.   NATURE REVIEWS NEUROSCIENCE

Immune transcriptome alterations in the temporal cortex of subjects with autism

(2008) Krassimira Garbett et al.   NEUROBIOLOGY OF DISEASE

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

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

Reversing Neurodevelopmental Disorders in Adults

(2008) Dan Ehninger et al.   NEURON

Autism Overflows: Increasing Prevalence and Proliferating Theories

(2008) Lynn Waterhouse   NEUROPSYCHOLOGY REVIEW