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

2013/11/01 by Neelroop Parikshak, Neelroop N. Parikshak, Rui Luo +8 · 1,126 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Autism #Autism Spectrum Disorder Research #Autism spectrum disorder #Biology #Computational biology #Gene #Gene expression #Gene regulatory network #Genetics #Genetics and Neurodevelopmental Disorders #Genomics and Chromatin Dynamics #Glutamatergic #Neuroscience #Phenotype #Transcription factor

paper · pdf · doi:10.1016/j.cell.2013.10.031

published in Cell 155(5), 1008-1021 (Cell Press)

openalex publication_date 2013/11/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01

Citations

• Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
• PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

Cited by

• FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders
• Histone Acetylome-wide Association Study of Autism Spectrum Disorder
• Five energy metabolism pathways show distinct regional distributions and lifespan trajectories in the human brain
• Molecular and Genetic Mechanisms in Autism Spectrum Disorder
• A General Principle of Neuronal Evolution Reveals a Human-Accelerated Neuron Type Potentially Underlying the High Prevalence of Autism in Humans
• “Teaching the biology of neurodiversity for social change”
• De novo protein-coding gene variants in developmental stuttering
• Transcriptomic and phenotypic convergence of neurodevelopmental disorder risk genes in vitro and in vivo
• The ASD Living Biology: from cell proliferation to clinical phenotype
• Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
• Abstract 2335: Beta-blockade Improves Survival in Chronic Aortic Regurgitation in Rats
• Cell type-specific dysregulation of gene expression due to Chd8 haploinsufficiency during mouse cortical development
• Translatome profiling reveals opposing alterations in inhibitory and excitatory neurons of fragile X mice and identifies EPAC2 as a therapeutic target
• The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment
• The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes
• The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders
• Characterizing Spatiotemporal Transcriptome of Human Brain via Low Rank Tensor Decomposition