Publications

(* denotes equal contribution) 


First Author Publications



A telomere-to-telomere map of somatic mutation burden and functional impact in cancer. 


bioRxiv (2025). https://doi.org/10.1101/2025.10.10.681725



Integrating Single-Molecule Sequencing and Deep Learning to Predict Haplotype-Specific 3D Chromatin Organization in a Mendelian Condition. 


bioRxiv (2025). https://doi.org/10.1101/2025.02.26.640261



Conservation of dichromatin organization along regional centromeres.


Cell Genomics (2025). https://doi.org/10.1101/2023.04.20.537689

 


Single-molecule architecture and heterogeneity of human telomeric DNA and chromatin. 


bioRxiv (2022).  https://doi.org/10.1101/2022.05.09.491186


Second Author Publications



DNA methylation influences human centromere positioning and function. 


Nature Genetics (2025). https://doi.org/10.1038/s41588-025-02324-w



Heterochromatin boundaries maintain centromere position, size, and number. 


Nature Structural & Molecular Biology (2025). https://doi.org/10.1101/2025.02.03.635667



Human Satellite 3 DNA encodes megabase-scale transcription factor binding platforms. 


bioRxiv (2024). https://doi.org/10.1101/2024.10.22.616524


Additional Publications



Genetic diversity and regulatory features of human-specific NOTCH2NL duplications. 


Cell Genomics (2026). https://doi.org/10.1016/j.xgen.2026.101194



Haplotype-resolved centromeric chromatin organization from a complete diploid human genome. 


bioRxiv (2026). https://doi.org/10.64898/2026.03.27.714900



Protamine lacunae preserve the paternal chromatin landscape in sperm. 


bioRxiv (2025). https://doi.org/10.1101/2025.10.10.667890



Principles and functional consequences of plasmid chromatinization in mammalian cells. 


bioRxiv (2025). https://doi.org/10.1101/2025.05.27.656122



Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon. 


Cell Genomics (2025). https://doi.org/10.1101/2024.08.29.610280



Mapping enhancer-gene regulatory interactions from single-cell data. 


bioRxiv (2024). https://doi.org/10.1101/2024.11.23.624931



Single-molecule states link transcription factor binding to gene expression. 


Nature (2024). https://doi.org/10.1038/s41586-024-08219-w



RNA polymerases reshape chromatin architecture and couple transcription on individual fibers. 


Molecular Cell  (2024). https://doi.org/10.1016/j.molcel.2024.08.013



DNA-m6A calling and integrated long-read epigenetic and genetic analysis with fibertools. 


Genome Research (2024). https://doi.org/10.1101/2023.04.20.537673



Single-nucleoid architecture reveals heterogeneous packaging of mitochondrial DNA. 


Nature Structural & Molecular Biology (2024). https://doi.org/10.1038/s41594-024-01225-6



Identifying and quantifying isoforms from accurate full-length transcriptome sequencing reads with Mandalorion. 


Genome Biology (2023). https://doi.org/10.1186/s13059-023-02999-6



Evidence of disrupted rhombic lip development in the pathogenesis of Dandy-Walker malformation. 


Acta Neuropathol (2021). 10.1007/s00401-021-02355-7