High-throughput single-cell functional elucidation of neurodevelopmental disease–associated genes reveals convergent mechanisms altering neuronal differentiation

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

(2020) F. Kyle Satterstrom et al.   CELL

Effects of cytokines on nuclear factor-kappa B, cell viability, and synaptic connectivity in a human neuronal cell line

(2020) Lauren Matelski et al.   MOLECULAR PSYCHIATRY

Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons

(2019) Simon T. Schafer et al.   NATURE NEUROSCIENCE

Comprehensive Integration of Single-Cell Data

(2019) Tim Stuart et al.   CELL

A Single-Cell Transcriptomic Atlas of Human Neocortical Development during Mid-gestation

(2019) Damon Polioudakis et al.   NEURON

Model-based understanding of single-cell CRISPR screening

(2019) Bin Duan et al.   Nature Communications

A pooled single-cell genetic screen identifies regulatory checkpoints in the continuum of the epithelial-to-mesenchymal transition

(2019) José L. McFaline-Figueroa et al.   NATURE GENETICS

CRISPR Interference-Based Platform for Multimodal Genetic Screens in Human iPSC-Derived Neurons

(2019) Ruilin Tian et al.   NEURON

Optical Pooled Screens in Human Cells

(2019) David Feldman et al.   CELL

bHLH transcription factors in neural development, disease, and reprogramming

(2018) Daniel J. Dennis et al.   BRAIN RESEARCH

On the design of CRISPR-based single-cell molecular screens

(2018) Andrew J Hill et al.   NATURE METHODS

Parkinson's disease genetic risk in a midbrain neuronal cell line

(2018) Steven E. Pierce et al.   NEUROBIOLOGY OF DISEASE

Frequent sgRNA-barcode recombination in single-cell perturbation assays

(2018) Shiqi Xie et al.   PLoS One

The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders

(2018) A. Jeremy Willsey et al.   CELL

Single-Cell RNA-Seq Uncovers a Robust Transcriptional Response to Morphine by Glia

(2018) Denis Avey et al.   Cell Reports

Human Models Are Needed for Studying Human Neurodevelopmental Disorders

(2018) Xinyu Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dimensionality reduction for visualizing single-cell data using UMAP

(2018) Etienne Becht et al.   NATURE BIOTECHNOLOGY

OMIM.org: leveraging knowledge across phenotype–gene relationships

(2018) Joanna S Amberger et al.   NUCLEIC ACIDS RESEARCH

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

(2018) Mingfeng Li et al.   SCIENCE

Optimized libraries for CRISPR-Cas9 genetic screens with multiple modalities

(2018) Kendall R. Sanson et al.   Nature Communications

Multiplexed Engineering and Analysis of Combinatorial Enhancer Activity in Single Cells

(2017) Shiqi Xie et al.   MOLECULAR CELL

Common genetic variation drives molecular heterogeneity in human iPSCs

(2017) Helena Kilpinen et al.   NATURE

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Pooled CRISPR screening with single-cell transcriptome readout

(2017) Paul Datlinger et al.   NATURE METHODS

Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior

(2017) Eui-Man Jung et al.   NATURE NEUROSCIENCE

WebGestalt 2017: a more comprehensive, powerful, flexible and interactive gene set enrichment analysis toolkit

(2017) Jing Wang et al.   NUCLEIC ACIDS RESEARCH

Transcriptional signatures of schizophrenia in hiPSC-derived NPCs and neurons are concordant with post-mortem adult brains

(2017) Gabriel E. Hoffman et al.   Nature Communications

Massively parallel digital transcriptional profiling of single cells

(2017) Grace X. Y. Zheng et al.   Nature Communications

Protective efficacy of phosphodiesterase-1 inhibition against alpha-synuclein toxicity revealed by compound screening in LUHMES cells

(2017) Matthias Höllerhage et al.   Scientific Reports

Inhibition of DYRK1A disrupts neural lineage specificationin human pluripotent stem cells

(2017) Stephanie F Bellmaine et al.   eLife

Evaluating Synthetic Activation and Repression of Neuropsychiatric-Related Genes in hiPSC-Derived NPCs, Neurons, and Astrocytes

(2017) Seok-Man Ho et al.   Stem Cell Reports

A Powerful CRISPR/Cas9-Based Method for Targeted Transcriptional Activation

(2016) Shota Katayama et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Perturb-Seq: Dissecting Molecular Circuits with Scalable Single-Cell RNA Profiling of Pooled Genetic Screens

(2016) Atray Dixit et al.   CELL

A Multiplexed Single-Cell CRISPR Screening Platform Enables Systematic Dissection of the Unfolded Protein Response

(2016) Britt Adamson et al.   CELL

Characterization of three human cell line models for high-throughput neuronal cytotoxicity screening

(2016) Zhi-Bin Tong et al.   JOURNAL OF APPLIED TOXICOLOGY

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

(2016) M C Marchetto et al.   MOLECULAR PSYCHIATRY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Chd8 mediates cortical neurogenesis via transcriptional regulation of cell cycle and Wnt signaling

(2016) Omer Durak et al.   NATURE NEUROSCIENCE

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

Spatial reconstruction of single-cell gene expression data

(2015) Rahul Satija et al.   NATURE BIOTECHNOLOGY

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

(2015) Justin Cotney et al.   Nature Communications

Cell Type-Specific Expression Analysis to Identify Putative Cellular Mechanisms for Neurogenetic Disorders

(2014) X. Xu et al.   JOURNAL OF NEUROSCIENCE

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

The dynamics and regulators of cell fate decisions are revealed by pseudotemporal ordering of single cells

(2014) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

A Quantitative Framework to Evaluate Modeling of Cortical Development by Neural Stem Cells

(2014) Jason L. Stein et al.   NEURON

Nervous decision-making: to divide or differentiate

(2014) Laura J.A. Hardwick et al.   TRENDS IN GENETICS

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

(2013) Neelroop N. Parikshak et al.   CELL

CRISPR-Mediated Modular RNA-Guided Regulation of Transcription in Eukaryotes

(2013) Luke A. Gilbert et al.   CELL

Cas9 effector-mediated regulation of transcription and differentiation in human pluripotent stem cells

(2013) N. A. Kearns et al.   DEVELOPMENT

Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells

(2013) Ophir Shalem et al.   SCIENCE

Genetic Screens in Human Cells Using the CRISPR-Cas9 System

(2013) Tim Wang et al.   SCIENCE

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

(2013) Brett S Abrahams et al.   Molecular Autism

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Rapid, complete and large-scale generation of post-mitotic neurons from the human LUHMES cell line

(2011) Diana Scholz et al.   JOURNAL OF NEUROCHEMISTRY

Promoting Axon Regeneration in the Adult CNS by Modulation of the PTEN/mTOR Pathway

(2008) K. K. Park et al.   SCIENCE