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 …

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 …

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 …

Open chromatin profiling in hiPSC-derived neurons prioritizes functional noncoding psychiatric risk variants and highlights neurodevelopmental loci

MP Forrest, H Zhang, W Moy, H McGowan, C Leites… - Cell stem cell, 2017 - cell.com
Most disease variants lie within noncoding genomic regions, making their functional
interpretation challenging. Because chromatin openness strongly influences transcriptional …

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 …

Synaptic dysfunction in complex psychiatric disorders: from genetics to mechanisms

X Wang, KM Christian, H Song, G Ming - Genome medicine, 2018 - Springer
Editorial summary Breakthroughs on many fronts have provided strong evidence to support
synaptic dysfunction as a causal factor for neuropsychiatric diseases. Genetic studies have …

Isoform-level transcriptome-wide association uncovers genetic risk mechanisms for neuropsychiatric disorders in the human brain

A Bhattacharya, DD Vo, C Jops, M Kim, C Wen… - Nature Genetics, 2023 - nature.com
Methods integrating genetics with transcriptomic reference panels prioritize risk genes and
mechanisms at only a fraction of trait-associated genetic loci, due in part to an overreliance …

Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits

ER Gamazon, AH Zwinderman, NJ Cox, D Denys… - Nature …, 2019 - nature.com
The genetic architecture of psychiatric disorders is characterized by a large number of small-
effect variants located primarily in non-coding regions, suggesting that the underlying causal …

The road to precision psychiatry: translating genetics into disease mechanisms

MJ Gandal, V Leppa, H Won, NN Parikshak… - Nature …, 2016 - nature.com
Hundreds of genetic loci increasing risk for neuropsychiatric disorders have recently been
identified. This success, perhaps paradoxically, has posed challenges for therapeutic …

[HTML][HTML] Transcriptomic insight into the polygenic mechanisms underlying psychiatric disorders

LM Hernandez, M Kim, GD Hoftman, JR Haney… - Biological …, 2021 - Elsevier
Over the past decade, large-scale genetic studies have successfully identified hundreds of
genetic variants robustly associated with risk for psychiatric disorders. However, mechanistic …