Monica F. Sentmanat

The paper develops Nanopore-HiChIP to map enhancer hubs and shows they buffer allelic regulatory variation through kinetic compensation, preserving balanced transcriptional output.

The paper develops a method for efficient multi-kilobase knock-ins in mice and cell lines using CRISPR/Cas9 and rAAV donors, and introduces LOCK-seq for comprehensive characterization of the edited genome.

The paper uses fully phased telomere-to-telomere assemblies and long-read epigenomes to study centromere genetic and epigenetic dynamics across inheritance and cell-fate transitions, finding positional stability of CDRs and dynamic epigenetic changes.

This study identifies RFX4's role in cortical development by showing it restrains neurogenesis and regulates synaptic gene expression, with distinct effects from haploinsufficiency.

The paper describes a new NHGRI Sample Repository containing seven iPSC lines generated from PBMCs, with genomic data for studying genetic variation and its functional implications.

This study identifies MiDAC as a regulator of neurodevelopmental gene expression by modulating histone acetylation and neurite outgrowth.

The paper demonstrates that direct lysis of respiratory samples can replace RNA extraction kits for RT-qPCR detection of 2019-nCoV, offering higher throughput, lower cost, faster turnaround, and potentially higher sensitivity and improved safety.