Human pluripotent stem cell models of autism spectrum disorder: emerging frontiers, opportunities, and challenges towards neuronal networks in a dish

An AT-Hook Domain in MeCP2 Determines the Clinical Course of Rett Syndrome and Related Disorders

(2013) Steven Andrew Baker et al.   CELL

Global Transcriptional and Translational Repression in Human-Embryonic-Stem-Cell-Derived Rett Syndrome Neurons

(2013) Yun Li et al.   Cell Stem Cell

Functional Maturation of hPSC-Derived Forebrain Interneurons Requires an Extended Timeline and Mimics Human Neural Development

(2013) Cory R. Nicholas et al.   Cell Stem Cell

Enhanced Efficiency of Human Pluripotent Stem Cell Genome Editing through Replacing TALENs with CRISPRs

(2013) Qiurong Ding et al.   Cell Stem Cell

Developmental vulnerability of synapses and circuits associated with neuropsychiatric disorders

(2013) Peter Penzes et al.   JOURNAL OF NEUROCHEMISTRY

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

(2013) Aleksandr Shcheglovitov et al.   NATURE

A library of TAL effector nucleases spanning the human genome

(2013) Yongsub Kim et al.   NATURE BIOTECHNOLOGY

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

(2013) Jocelyn F Krey et al.   NATURE NEUROSCIENCE

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

(2013) Elaine T. Lim et al.   NEURON

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Rare Inherited Variation in Autism: Beginning to See the Forest and a Few Trees

(2013) Jason L. Stein et al.   NEURON

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

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

(2012) Jacob J. Michaelson et al.   CELL

A TALEN Genome-Editing System for Generating Human Stem Cell-Based Disease Models

(2012) Qiurong Ding et al.   Cell Stem Cell

Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease

(2012) Adriana Sánchez-Danés et al.   EMBO Molecular Medicine

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

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

Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations

(2012) N Farra et al.   MOLECULAR PSYCHIATRY

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

(2012) Christelle Golzio et al.   NATURE

Autism-related deficits via dysregulated eIF4E-dependent translational control

(2012) Christos G. Gkogkas et al.   NATURE

Exaggerated translation causes synaptic and behavioural aberrations associated with autism

(2012) Emanuela Santini et al.   NATURE

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

(2012) Benjamin M. Neale et al.   NATURE

Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses

(2012) Yichen Shi et al.   NATURE NEUROSCIENCE

Generation of human induced pluripotent stem cells from urine samples

(2012) Ting Zhou et al.   Nature Protocols

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

(2012) Yichen Shi et al.   Nature Protocols

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

EENdb: a database and knowledge base of ZFNs and TALENs for endonuclease engineering

(2012) An Xiao et al.   NUCLEIC ACIDS RESEARCH

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

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

(2012) Morteza Yazdani et al.   STEM CELLS

Molecular analysis of FMR1 reactivation in fragile-X induced pluripotent stem cells and their neuronal derivatives

(2012) Ori Bar-Nur et al.   Journal of Molecular Cell Biology

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

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

Age-Dependent Brain Gene Expression and Copy Number Anomalies in Autism Suggest Distinct Pathological Processes at Young Versus Mature Ages

(2012) Maggie L. Chow et al.   PLoS Genetics

RETRACTED: Directed Conversion of Alzheimer's Disease Patient Skin Fibroblasts into Functional Neurons

(2011) Liang Qiang et al.   CELL

Absence of CNTNAP2 Leads to Epilepsy, Neuronal Migration Abnormalities, and Core Autism-Related Deficits

(2011) Olga Peñagarikano et al.   CELL

Efficient Generation of A9 Midbrain Dopaminergic Neurons by Lentiviral Delivery of LMX1A in Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2011) A. Sánchez-Danés et al.   HUMAN GENE THERAPY

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

(2011) Aaron Y.L. Cheung et al.   HUMAN MOLECULAR GENETICS

Abnormal Brain Protein Synthesis in Language Areas of Children With Pervasive Developmental Disorder

(2011) Varun Shandal et al.   JOURNAL OF CHILD NEUROLOGY

Fragile X-associated disorders: a clinical overview

(2011) Anne Gallagher et al.   JOURNAL OF NEUROLOGY

Generation of Induced Pluripotent Stem Cells from Urine

(2011) T. Zhou et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Rapid and Efficient Generation of Functional Motor Neurons From Human Pluripotent Stem Cells Using Gene Delivered Transcription Factor Codes

(2011) Mark E Hester et al.   MOLECULAR THERAPY

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand 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

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

(2011) Lauren T Gehman et al.   NATURE GENETICS

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

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Solving the Autism Puzzle a Few Pieces at a Time

(2011) Christian P. Schaaf et al.   NEURON

Deriving Excitatory Neurons of the Neocortex from Pluripotent Stem Cells

(2011) David V. Hansen et al.   NEURON

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

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

Cell-Surface Marker Signatures for the Isolation of Neural Stem Cells, Glia and Neurons Derived from Human Pluripotent Stem Cells

(2011) Shauna H. Yuan et al.   PLoS One

RNA-Seq of Human Neurons Derived from iPS Cells Reveals Candidate Long Non-Coding RNAs Involved in Neurogenesis and Neuropsychiatric Disorders

(2011) Mingyan Lin et al.   PLoS One

Epigenetic Characterization of the FMR1 Gene and Aberrant Neurodevelopment in Human Induced Pluripotent Stem Cell Models of Fragile X Syndrome

(2011) Steven D. Sheridan et al.   PLoS One

Mouse model of Timothy syndrome recapitulates triad of autistic traits

(2011) P. L. Bader et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cognitive and behavioral characteristics of children with Williams syndrome: Implications for intervention approaches

(2010) Carolyn B. Mervis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Bridging the gap between MRI and postmortem research in autism

(2010) Cynthia Mills Schumann et al.   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

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

Efficient Derivation of Functional Floor Plate Tissue from Human Embryonic Stem Cells

(2010) Christopher A. Fasano et al.   Cell Stem Cell

Copy number variants at Williams–Beuren syndrome 7q11.23 region

(2010) Giuseppe Merla et al.   HUMAN GENETICS

Direct conversion of fibroblasts to functional neurons by defined factors

(2010) Thomas Vierbuchen et al.   NATURE

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

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Derivation of Induced Pluripotent Stem Cells from Human Peripheral Blood T Lymphocytes

(2010) Matthew E. Brown et al.   PLoS One

Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency

(2010) B.-Y. Hu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Robust Enhancement of Neural Differentiation from Human ES and iPS Cells Regardless of their Innate Difference in Differentiation Propensity

(2010) Dae-Sung Kim et al.   Stem Cell Reviews and Reports

Fragile X Mental Retardation Protein Regulates Proliferation and Differentiation of Adult Neural Stem/Progenitor Cells

(2010) Yuping Luo et al.   PLoS Genetics

Incidence of Fragile X Syndrome by Newborn Screening for Methylated FMR1 DNA

(2009) Bradford Coffee et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy number variants, diseases and gene expression

(2009) C. N. Henrichsen et al.   HUMAN MOLECULAR GENETICS

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs

(2009) Gabsang Lee et al.   NATURE

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Microduplications of 16p11.2 are associated with schizophrenia

(2009) Shane E McCarthy et al.   NATURE GENETICS

Segmental copy number variation shapes tissue transcriptomes

(2009) Charlotte N Henrichsen et al.   NATURE GENETICS

Prevalence of Parent-Reported Diagnosis of Autism Spectrum Disorder Among Children in the US, 2007

(2009) M. D. Kogan et al.   PEDIATRICS

Activin/Nodal Inhibition Alone Accelerates Highly Efficient Neural Conversion from Human Embryonic Stem Cells and Imposes a Caudal Positional Identity

(2009) Rickie Patani et al.   PLoS One

Efficient induction of transgene-free human pluripotent stem cells using a vector based on Sendai virus, an RNA virus that does not integrate into the host genome

(2009) Noemi FUSAKI et al.   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

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

Valproic acid regulates catecholaminergic pathways by concentration-dependent threshold effects on TH mRNA synthesis and degradation

(2008) Antoni D'Souza et al.   BRAIN RESEARCH

The Autistic Neuron: Troubled Translation?

(2008) Raymond J. Kelleher et al.   CELL

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome

(2008) Judith R. Brouwer et al.   JOURNAL OF NEUROCHEMISTRY

Efficient and rapid generation of induced pluripotent stem cells from human keratinocytes

(2008) Trond Aasen et al.   NATURE BIOTECHNOLOGY

The adult human brain in preclinical drug development

(2008) Mike Dragunow   NATURE REVIEWS DRUG DISCOVERY

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

(2008) Amber Hogart et al.   NEUROBIOLOGY OF DISEASE

Neuroanatomy of autism

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