Cell-type-specific effects of genetic variation on chromatin accessibility during human neuronal differentiation

D Liang, AL Elwell, N Aygün, O Krupa, JM Wolter… - Nature …, 2021 - nature.com
Common genetic risk for neuropsychiatric disorders is enriched in regulatory elements
active during cortical neurogenesis. However, it remains poorly understood as to how these …

Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes

M Song, X Yang, X Ren, L Maliskova, B Li, IR Jones… - Nature …, 2019 - nature.com
Mutations in gene regulatory elements have been associated with a wide range of complex
neuropsychiatric disorders. However, due to their cell-type specificity and difficulties in …

An atlas of chromatin accessibility in the adult human brain

JF Fullard, ME Hauberg, J Bendl, G Egervari… - Genome …, 2018 - genome.cshlp.org
Most common genetic risk variants associated with neuropsychiatric disease are noncoding
and are thought to exert their effects by disrupting the function of cis regulatory elements …

[HTML][HTML] Single-cell epigenomics reveals mechanisms of human cortical development

RS Ziffra, CN Kim, JM Ross, A Wilfert, TN Turner… - Nature, 2021 - nature.com
During mammalian development, differences in chromatin state coincide with cellular
differentiation and reflect changes in the gene regulatory landscape. In the developing brain …

Allele-specific open chromatin in human iPSC neurons elucidates functional disease variants

S Zhang, H Zhang, Y Zhou, M Qiao, S Zhao, A Kozlova… - Science, 2020 - science.org
Most neuropsychiatric disease risk variants are in noncoding sequences and lack functional
interpretation. Because regulatory sequences often reside in open chromatin, we reasoned …

Common schizophrenia risk variants are enriched in open chromatin regions of human glutamatergic neurons

ME Hauberg, J Creus-Muncunill, J Bendl… - Nature …, 2020 - nature.com
The chromatin landscape of human brain cells encompasses key information to
understanding brain function. Here we use ATAC-seq to profile the chromatin structure in …

Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility

H Won, J Huang, CK Opland, CL Hartl… - Nature …, 2019 - nature.com
Modern genetic studies indicate that human brain evolution is driven primarily by changes in
gene regulation, which requires understanding the biological function of largely non-coding …

Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis

N Aygün, AL Elwell, D Liang, MJ Lafferty… - The American Journal of …, 2021 - cell.com
Interpretation of the function of non-coding risk loci for neuropsychiatric disorders and brain-
relevant traits via gene expression and alternative splicing quantitative trait locus (e/sQTL) …

A comparative atlas of single-cell chromatin accessibility in the human brain

YE Li, S Preissl, M Miller, ND Johnson, Z Wang, H Jiao… - Science, 2023 - science.org
Recent advances in single-cell transcriptomics have illuminated the diverse neuronal and
glial cell types within the human brain. However, the regulatory programs governing cell …

Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders

B Hu, H Won, W Mah, RB Park, B Kassim… - Nature …, 2021 - nature.com
Cellular heterogeneity in the human brain obscures the identification of robust cellular
regulatory networks, which is necessary to understand the function of non-coding elements …