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Selected Publications


Single-cell DNA methylation and 3D genome architecture in the human brain.

Journal Article Science (New York, N.Y.) · October 2023 Delineating the gene-regulatory programs underlying complex cell types is fundamental for understanding brain function in health and disease. Here, we comprehensively examined human brain cell epigenomes by probing DNA methylation and chromatin conformatio ... Full text Cite

Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.

Journal Article Hum Mol Genet · May 4, 2022 Rahman syndrome (RMNS) is a rare genetic disorder characterized by mild to severe intellectual disability, hypotonia, anxiety, autism spectrum disorder, vision problems, bone abnormalities and dysmorphic facies. RMNS is caused by de novo heterozygous mutat ... Full text Link to item Cite

A transcriptomic and epigenomic cell atlas of the mouse primary motor cortex.

Journal Article Nature · October 2021 Single-cell transcriptomics can provide quantitative molecular signatures for large, unbiased samples of the diverse cell types in the brain1-3. With the proliferation of multi-omics datasets, a major challenge is to validate and integrate results into a b ... Full text Link to item Cite

DNA methylation atlas of the mouse brain at single-cell resolution.

Journal Article Nature · October 2021 Mammalian brain cells show remarkable diversity in gene expression, anatomy and function, yet the regulatory DNA landscape underlying this extensive heterogeneity is poorly understood. Here we carry out a comprehensive assessment of the epigenomes of mouse ... Full text Cite

Comparative cellular analysis of motor cortex in human, marmoset and mouse.

Journal Article Nature · October 2021 The primary motor cortex (M1) is essential for voluntary fine-motor control and is functionally conserved across mammals1. Here, using high-throughput transcriptomic and epigenomic profiling of more than 450,000 single nuclei in humans, marmoset ... Full text Cite

Epigenomic diversity of cortical projection neurons in the mouse brain.

Journal Article Nature · October 2021 Neuronal cell types are classically defined by their molecular properties, anatomy and functions. Although recent advances in single-cell genomics have led to high-resolution molecular characterization of cell type diversity in the brain1, neuro ... Full text Cite

Single nucleus multi-omics regulatory landscape of the murine pituitary.

Journal Article Nature communications · May 2021 To provide a multi-omics resource and investigate transcriptional regulatory mechanisms, we profile the transcriptome, chromatin accessibility, and methylation status of over 70,000 single nuclei (sn) from adult mouse pituitaries. Paired snRNAseq and snATA ... Full text Cite

A multimodal cell census and atlas of the mammalian primary motor cortex

Journal Article · 2020 ABSTRACT We report the generation of a multimodal cell census and atlas of the mammalian primary motor cortex (MOp or M1) as the initial product of the BRAIN Initiative Cell Census Network (BICCN). This was achieved by coordinated large-scale anal ... Full text Cite