Multi-omic profiling of the developing human cerebral cortex at the single-cell level

K Zhu, J Bendl, S Rahman, JM Vicari, C Coleman… - Science …, 2023 - science.org
The cellular complexity of the human brain is established via dynamic changes in gene
expression throughout development that is mediated, in part, by the spatiotemporal activity …

Towards understanding sex differences in autism spectrum disorders

KQ Leow, MA Tonta, J Lu, HA Coleman, HC Parkington - Brain Research, 2024 - Elsevier
Abstract Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized
by social deficits, repetitive behaviours and lack of empathy. Its significant genetic heritability …

Chromatin accessibility provides a window into the genetic etiology of human brain disease

J Bendl, JF Fullard, K Girdhar, P Dong, R Kosoy… - Trends in Genetics, 2025 - cell.com
Neuropsychiatric and neurodegenerative diseases have a significant genetic component.
Risk variants often affect the noncoding genome, altering cis-regulatory elements (CREs) …

A multi-regional human brain atlas of chromatin accessibility and gene expression facilitates promoter-isoform resolution genetic fine-mapping

P Dong, L Song, J Bendl, R Misir, Z Shao… - Nature …, 2024 - nature.com
Brain region-and cell-specific transcriptomic and epigenomic features are associated with
heritability for neuropsychiatric traits, but a systematic view, considering cortical and …

The three-dimensional landscape of cortical chromatin accessibility in Alzheimer's disease

J Bendl, ME Hauberg, K Girdhar, E Im, JM Vicari… - Nature …, 2022 - nature.com
To characterize the dysregulation of chromatin accessibility in Alzheimer's disease (AD), we
generated 636 ATAC-seq libraries from neuronal and nonneuronal nuclei isolated from the …

Chromatin domain alterations linked to 3D genome organization in a large cohort of schizophrenia and bipolar disorder brains

K Girdhar, GE Hoffman, J Bendl, S Rahman… - Nature …, 2022 - nature.com
Chromosomal organization, scaling from the 147-base pair (bp) nucleosome to megabase-
ranging domains encompassing multiple transcriptional units, including heritability loci for …

A landscape of gene expression regulation for synovium in arthritis

F Jiang, SY Hu, W Tian, NN Wang, N Yang… - Nature …, 2024 - nature.com
The synovium is an important component of any synovial joint and is the major target tissue
of inflammatory arthritis. However, the multi-omics landscape of synovium required for …

Stimulating Wnt signaling reveals context-dependent genetic effects on gene regulation in primary human neural progenitors

N Matoba, BD Le, JM Valone, JM Wolter, JT Mory… - Nature …, 2024 - nature.com
Gene regulatory effects have been difficult to detect at many non-coding loci associated with
brain-related traits, likely because some genetic variants have distinct functions in specific …

Convergence of the dysregulated regulome in schizophrenia with polygenic risk and evolutionarily constrained enhancers

P Dong, G Voloudakis, JF Fullard, GE Hoffman… - Molecular …, 2024 - nature.com
Enhancers play an essential role in the etiology of schizophrenia; however, the
dysregulation of enhancer activity and its impact on the regulome in schizophrenia remains …

Novel insight into the etiology of ischemic stroke gained by integrative multiome-wide association study

J Jung, Z Lu, A de Smith… - Human Molecular …, 2024 - academic.oup.com
Stroke, characterized by sudden neurological deficits, is the second leading cause of death
worldwide. Although genome-wide association studies (GWAS) have successfully identified …