The neuronal genome is particularly sensitive to loss or attenuation of DNA repair, and many
neurological diseases ensue when DNA repair is impaired. It is well-established that the …

Current catalogs of regulatory sequences in the human genome are still incomplete and lack
cell type resolution. To profile the activity of gene regulatory elements in diverse cell types …

Abstract Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized
by social deficits, repetitive behaviours and lack of empathy. Its significant genetic heritability …

Candidate cis-regulatory elements (cCREs) in microglia demonstrate the most substantial
enrichment for Alzheimer's disease (AD) heritability compared to other brain cell types …

Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …

Nucleotide changes in gene regulatory elements are important determinants of neuronal
development and diseases. Using massively parallel reporter assays in primary human cells …

Human accelerated regions (HARs) are conserved genomic loci that evolved at an
accelerated rate in the human lineage and may underlie human-specific traits. We …

Defects in DNA repair frequently lead to neurodevelopmental and neurodegenerative
diseases, underscoring the particular importance of DNA repair in long-lived post-mitotic …

Single-cell genomics is a powerful tool for studying heterogeneous tissues such as the
brain. Yet little is understood about how genetic variants influence cell-level gene …

Elucidating the regulatory mechanisms of human brain evolution is essential to
understanding human cognition and mental disorders. We generated multi-omics profiles …