Drug discovery for autism spectrum disorder: challenges and opportunities

A Randomized Double-Blind, Placebo-Controlled Trial of Minocycline in Children and Adolescents with Fragile X Syndrome

(2013) Mary Jacena S. Leigh et al.   JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS

In utero exposure to valproic acid and autism — A current review of clinical and animal studies

(2013) Florence I. Roullet et al.   NEUROTOXICOLOGY AND TERATOLOGY

Minocycline treatment reverses ultrasonic vocalization production deficit in a mouse model of Fragile X Syndrome

(2012) Sarah E. Rotschafer et al.   BRAIN RESEARCH

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

(2012) Jacob J. Michaelson et al.   CELL

The Innovative Medicines Initiative: A European Response to the Innovation Challenge

(2012) M Goldman   CLINICAL PHARMACOLOGY & THERAPEUTICS

Cellular and synaptic network defects in autism

(2012) João Peça et al.   CURRENT OPINION IN NEUROBIOLOGY

Human neuroimaging of oxytocin and vasopressin in social cognition

(2012) Caroline F. Zink et al.   HORMONES AND BEHAVIOR

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

A travel guide to Cytoscape plugins

(2012) Rintaro Saito et al.   NATURE METHODS

EU-AIMS: a boost to autism research

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

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

(2012) Andrea Franceschini et al.   NUCLEIC ACIDS RESEARCH

Comprehensive Analysis of Ultrasonic Vocalizations in a Mouse Model of Fragile X Syndrome Reveals Limited, Call Type Specific Deficits

(2012) Snigdha Roy et al.   PLoS One

Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen

(2012) C. Henderson et al.   Science Translational Medicine

Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism

(2012) J. L. Silverman et al.   Science Translational Medicine

Effects of STX209 (Arbaclofen) on Neurobehavioral Function in Children and Adults with Fragile X Syndrome: A Randomized, Controlled, Phase 2 Trial

(2012) E. M. Berry-Kravis et al.   Science Translational Medicine

Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders

(2012) Will Spooren et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Improving R&D productivity of pharmaceutical companies through public–private partnership: experiences from the Innovative Medicines Initiative

(2012) Hugh Laverty et al.   Expert Review of Pharmacoeconomics & Outcomes Research

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

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

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

(2011) Jennifer C. Darnell et al.   CELL

Sirolimus Therapy for Angiomyolipoma in Tuberous Sclerosis and Sporadic Lymphangioleiomyomatosis: A Phase 2 Trial

(2011) D. M. Davies et al.   CLINICAL CANCER RESEARCH

Fragile X Syndrome: The GABAergic System and Circuit Dysfunction

(2011) Scott M. Paluszkiewicz et al.   DEVELOPMENTAL NEUROSCIENCE

An autism-associated point mutation in the neuroligin cytoplasmic tail selectively impairs AMPA receptor-mediated synaptic transmission in hippocampus

(2011) Mark R Etherton et al.   EMBO JOURNAL

Research Review: Constraining heterogeneity: the social brain and its development in autism spectrum disorder

(2011) Kevin A. Pelphrey et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Mutations causing syndromic autism define an axis of synaptic pathophysiology

(2011) Benjamin D. Auerbach et al.   NATURE

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

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Multicenter Phase 2 Trial of Sirolimus for Tuberous Sclerosis: Kidney Angiomyolipomas and Other Tumors Regress and VEGF- D Levels Decrease

(2011) Sandra L. Dabora et al.   PLoS One

Investigating synapse formation and function using human pluripotent stem cell-derived neurons

(2011) J.-E. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

(2011) Angela M. Mabb et al.   TRENDS IN NEUROSCIENCES

Epigenetic discordance at imprinting control regions in twins

(2011) Miina Ollikainen et al.   Epigenomics

Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome

(2010) Dilja D. Krueger et al.   Annual Review of Medicine

Open-label add-on treatment trial of minocycline in fragile X syndrome

(2010) Carlo Paribello et al.   BMC Neurology

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

Unusual repertoire of vocalizations in adult BTBR T+tf/J mice during three types of social encounters

(2010) M. L. Scattoni et al.   GENES BRAIN AND BEHAVIOR

Network medicine: a network-based approach to human disease

(2010) Albert-László Barabási et al.   NATURE REVIEWS GENETICS

Behavioural phenotyping assays for mouse models of autism

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

GSK3 signalling in neural development

(2010) Eun-Mi Hur et al.   NATURE REVIEWS NEUROSCIENCE

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

(2010) Timothy Buie et al.   PEDIATRICS

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

Altered ultrasonic vocalizations in a tuberous sclerosis mouse model of autism

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

Promoting social behavior with oxytocin in high-functioning autism spectrum disorders

(2010) E. Andari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lithium ameliorates altered glycogen synthase kinase-3 and behavior in a mouse model of Fragile X syndrome

(2009) Christopher J. Yuskaitis et al.   BIOCHEMICAL PHARMACOLOGY

Genetics of autism spectrum disorders

(2009) Ravinesh A. Kumar et al.   Current Neurology and Neuroscience Reports

Fragile X syndrome—From genes to cognition

(2009) A. Schneider et al.   Developmental Disabilities Research Reviews

Psychiatric Disorders in Children With Autism Spectrum Disorders: Prevalence, Comorbidity, and Associated Factors in a Population-Derived Sample

(2009) Emily Simonoff et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Epidemiology of Pervasive Developmental Disorders

(2009) Eric Fombonne   PEDIATRIC RESEARCH

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

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

(2009) Catalina Betancur et al.   TRENDS IN NEUROSCIENCES

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   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

Response of a Neuronal Model of Tuberous Sclerosis to Mammalian Target of Rapamycin (mTOR) Inhibitors: Effects on mTORC1 and Akt Signaling Lead to Improved Survival and Function

(2008) L. Meikle et al.   JOURNAL OF NEUROSCIENCE

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

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

(2008) Dan Ehninger et al.   NATURE MEDICINE

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

(2008) Mark I. McCarthy et al.   NATURE REVIEWS GENETICS

Regression in Autistic Spectrum Disorders

(2008) Gerry A. Stefanatos   NEUROPSYCHOLOGY REVIEW

Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis

(2008) John J. Bissler et al.   NEW ENGLAND JOURNAL OF MEDICINE

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE

Autism-like behavioral phenotypes in BTBR T+tf/J mice

(2007) H. G. McFarlane et al.   GENES BRAIN AND BEHAVIOR