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

Abnormal mTOR Activation in Autism

(2018) Kellen D. Winden et al.   Annual Review of Neuroscience

New considerations for hiPSC-based models of neuropsychiatric disorders

(2018) Gabriel E. Hoffman et al.   MOLECULAR PSYCHIATRY

APOE4 Causes Widespread Molecular and Cellular Alterations Associated with Alzheimer’s Disease Phenotypes in Human iPSC-Derived Brain Cell Types

(2018) Yuan-Ta Lin et al.   NEURON

Human iPSC-derived neuronal models for in vitro neurotoxicity assessment

(2018) Anke M. Tukker et al.   NEUROTOXICOLOGY

Communicating complex genomic information: A counselling approach derived from research experience with Autism Spectrum Disorder

(2018) Ny Hoang et al.   PATIENT EDUCATION AND COUNSELING

Paternally inherited cis-regulatory structural variants are associated with autism

(2018) William M. Brandler et al.   SCIENCE

Heterogeneity in clinical sequencing tests marketed for autism spectrum disorders

(2018) Ny Hoang et al.   npj Genomic Medicine

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

Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I

(2017) Jing Zhang et al.   HUMAN MUTATION

Application of CRISPR/Cas9 to the study of brain development and neuropsychiatric disease

(2017) S.K. Powell et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

(2017) Daniel J Weiner et al.   NATURE GENETICS

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

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

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

(2017) Marc Woodbury-Smith et al.   Molecular Autism

Autism Spectrum Disorders and Schizophrenia Spectrum Disorders: Excitation/Inhibition Imbalance and Developmental Trajectories

(2017) Roberto Canitano et al.   Frontiers in Psychiatry

An extended set of yeast-based functional assays accurately identifies human disease mutations

(2016) Song Sun et al.   GENOME RESEARCH

Rapid Ngn2-induction of excitatory neurons from hiPSC-derived neural progenitor cells

(2016) Seok-Man Ho et al.   METHODS

Stem cell models of neuropsychiatric disorders

(2016) Rakesh Karmacharya et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Modeling synaptogenesis in schizophrenia and autism using human iPSC derived neurons

(2016) Christa W. Habela et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

(2016) O Mercati et al.   MOLECULAR PSYCHIATRY

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

(2016) M C Marchetto et al.   MOLECULAR PSYCHIATRY

Autism-associated SHANK3 haploinsufficiency causes Ih channelopathy in human neurons

(2016) F. Yi et al.   SCIENCE

Genome-wide characteristics of de novo mutations in autism

(2016) Ryan KC Yuen et al.   npj Genomic Medicine

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

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Gene hunting in autism spectrum disorder: on the path to precision medicine

(2015) Daniel H Geschwind et al.   LANCET NEUROLOGY

Whole-genome sequencing of quartet families with autism spectrum disorder

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

From the genetic architecture to synaptic plasticity in autism spectrum disorder

(2015) Thomas Bourgeron   NATURE REVIEWS NEUROSCIENCE

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

(2015) M. Sahin et al.   SCIENCE

Chromatin dynamics and the role of G9a in gene regulation and enhancer silencing during early mouse development

(2015) Jan J Zylicz et al.   eLife

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Brain Changes in Kallmann Syndrome

(2014) R. Manara et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Human Induced Pluripotent Stem Cells: Now Open to Discovery

(2014) Omer Durak et al.   Cell Stem Cell

Modeling a Genetic Risk for Schizophrenia in iPSCs and Mice Reveals Neural Stem Cell Deficits Associated with Adherens Junctions and Polarity

(2014) Ki-Jun Yoon et al.   Cell Stem Cell

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

(2014) Mohammed Uddin et al.   NATURE GENETICS

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

(2014) Yuichiro Miyaoka et al.   NATURE METHODS

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Double Nicking by RNA-Guided CRISPR Cas9 for Enhanced Genome Editing Specificity

(2013) F. Ann Ran et al.   CELL

Autism spectrum disorder in the genetics clinic: a review

(2013) MT Carter et al.   CLINICAL GENETICS

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

(2013) Yingsha Zhang et al.   NEURON

Diagnosing autism in neurobiological research studies

(2012) Rebecca M. Jones et al.   BEHAVIOURAL BRAIN RESEARCH

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Genetic architecture in autism spectrum disorder

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

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

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

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons

(2011) Ricardo Dolmetsch et al.   CELL

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

(2011) Emma van Daalen et al.   NEUROGENETICS

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

Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

(2011) A. C. Lionel et al.   Science Translational Medicine

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

(2010) Catalina Betancur   BRAIN RESEARCH

GABAergic Differentiation Induced by Mash1 Is Compromised by the bHLH Proteins Neurogenin2, NeuroD1, and NeuroD2

(2009) Laurent Roybon et al.   CEREBRAL CORTEX

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

(2009) Akitsu Hotta et al.   NATURE METHODS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kallmann syndrome

(2008) Catherine Dodé et al.   EUROPEAN JOURNAL OF HUMAN GENETICS