SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons

CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

(2019) Eric Deneault et al.   eLife

Combining NGN2 Programming with Developmental Patterning Generates Human Excitatory Neurons with NMDAR-Mediated Synaptic Transmission

(2018) Ralda Nehme et al.   Cell Reports

Hyperactivity and Hypermotivation Associated With Increased Striatal mGluR1 Signaling in a Shank2 Rat Model of Autism

(2018) Meera E. Modi et al.   Frontiers in Molecular Neuroscience

Distinct Phenotypes of Shank2 Mouse Models Reflect Neuropsychiatric Spectrum Disorders of Human Patients With SHANK2 Variants

(2018) Ahmed Eltokhi et al.   Frontiers in Molecular Neuroscience

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

(2018) Eric Deneault et al.   Stem Cell Reports

Spatiotemporal Proteomic Profiling of Human Cerebral Development

(2017) Ugljesa Djuric et al.   MOLECULAR & CELLULAR PROTEOMICS

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

(2017) Ryan K C Yuen et al.   NATURE NEUROSCIENCE

Networks of Cultured iPSC-Derived Neurons Reveal the Human Synaptic Activity-Regulated Adaptive Gene Program

(2017) Priit Pruunsild et al.   Cell Reports

Predicting the functional states of human iPSC-derived neurons with single-cell RNA-seq and electrophysiology

(2016) C Bardy et al.   MOLECULAR PSYCHIATRY

Early hyperactivity and precocious maturation of corticostriatal circuits in Shank3B−/− mice

(2016) Rui T Peixoto et al.   NATURE NEUROSCIENCE

CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

(2016) Michael Bidinosti et al.   SCIENCE

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

(2016) F. Yi et al.   SCIENCE

MECP2 Is Post-transcriptionally Regulated during Human Neurodevelopment by Combinatorial Action of RNA-Binding Proteins and miRNAs

(2016) Deivid C. Rodrigues et al.   Cell Reports

Fyn Kinase regulates GluN2B subunit-dominant NMDA receptors in human induced pluripotent stem cell-derived neurons

(2016) Wen-Bo Zhang et al.   Scientific Reports

Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1

(2015) ChangHui Pak et al.   Cell Stem Cell

Development and function of human cerebral cortex neural networks from pluripotent stem cells in vitro

(2015) P. Kirwan et al.   DEVELOPMENT

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

(2015) Brooke A. DeRosa et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

HISAT: a fast spliced aligner with low memory requirements

(2015) Daehwan Kim et al.   NATURE METHODS

MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells

(2015) Ugljesa Djuric et al.   NEUROBIOLOGY OF DISEASE

Dendritic spine dynamics leading to spine elimination after repeated inductions of LTD

(2015) Sho Hasegawa et al.   Scientific Reports

Creating Patient-Specific Neural Cells for the In Vitro Study of Brain Disorders

(2015) Kristen J. Brennand et al.   Stem Cell Reports

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

(2014) K Griesi-Oliveira et al.   MOLECULAR PSYCHIATRY

Sailfish enables alignment-free isoform quantification from RNA-seq reads using lightweight algorithms

(2014) Rob Patro et al.   NATURE BIOTECHNOLOGY

Isolation of single-base genome-edited human iPS cells without antibiotic selection

(2014) Yuichiro Miyaoka et al.   NATURE METHODS

Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

(2014) Guomei Tang et al.   NEURON

CHD8regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

(2014) Aarathi Sugathan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reciprocal signaling between translational control pathways and synaptic proteins in autism spectrum disorders

(2014) E. Santini et al.   Science Signaling

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

(2014) Claire S. Leblond et al.   PLoS Genetics

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism

(2013) Neelroop N. Parikshak et al.   CELL

Directed Differentiation and Functional Maturation of Cortical Interneurons from Human Embryonic Stem Cells

(2013) Asif M. Maroof et al.   Cell Stem Cell

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

(2013) Aleksandr Shcheglovitov et al.   NATURE

DNA targeting specificity of RNA-guided Cas9 nucleases

(2013) Patrick D Hsu et al.   NATURE BIOTECHNOLOGY

Opportunities and challenges of pluripotent stem cell neurodegenerative disease models

(2013) Jackson Sandoe et al.   NATURE NEUROSCIENCE

Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells

(2013) Yingsha Zhang et al.   NEURON

NMDA receptor-dependent glutamate excitotoxicity in human embryonic stem cell-derived neurons

(2013) Kunal Gupta et al.   NEUROSCIENCE LETTERS

Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2

(2012) Michael J. Schmeisser et al.   NATURE

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

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

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

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

(2011) Jennifer C. Darnell et al.   CELL

Hyperconnectivity and Slow Synapses during Early Development of Medial Prefrontal Cortex in a Mouse Model for Mental Retardation and Autism

(2011) Guilherme Testa-Silva et al.   CEREBRAL CORTEX

Concerted action of zinc and ProSAP/Shank in synaptogenesis and synapse maturation

(2011) Andreas M Grabrucker et al.   EMBO JOURNAL

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology

(2011) Simone Berkel et al.   HUMAN MOLECULAR GENETICS

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

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

(2010) Simone Berkel et al.   NATURE GENETICS

Single-Synapse Analysis of a Diverse Synapse Population: Proteomic Imaging Methods and Markers

(2010) Kristina D. Micheva et al.   NEURON

Enrichment Map: A Network-Based Method for Gene-Set Enrichment Visualization and Interpretation

(2010) Daniele Merico et al.   PLoS One

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

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Isolation of human iPS cells using EOS lentiviral vectors to select for pluripotency

(2009) Akitsu Hotta et al.   NATURE METHODS

The regulation of dendritic arbor development and plasticity by glutamatergic synaptic input: a review of the synaptotrophic hypothesis

(2008) Hollis Cline et al.   JOURNAL OF PHYSIOLOGY-LONDON