Xiaoxia Cui

High-order enhancer hubs buffer allelic regulatory variation through kinetic compensation

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

Efficient Multi-Kilobase Knockins in Mice and Cell Lines using CRISPR/Cas9 and rAAV Donors with Unbiased Whole-Genome characterization by LOCK-seq

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.

Fully T2T pedigree assemblies reveal genetic stability and epigenetic plasticity of human centromeres across inheritance and cell-fate transitions

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.

Intellectual disability risk gene RFX4 regulates cortical neurogenesis by restraining neuronal differentiation

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

Lrp1 facilitates infection of neurons by Jamestown Canyon virus

This study identifies Lrp1 as a host factor required for Jamestown Canyon virus infection of neurons and shows it is shared by other bunyaviruses.

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

Adipose Tissue Overexpression of Nicotinamide Phosphoribosyltransferase Prevents Metabolic Dysfunction in Obese Mice

This study shows that overexpressing NAMPT in adipocytes protects against metabolic dysfunction in male obese mice but not females, via improved interorgan communication and extracellular vesicle effects.

A new NHGRI Sample Repository for Human Genetic Research collection of induced pluripotent stem cell lines.

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.

Single-cell RNA-seq Reveals Early Transcriptional Programs of the Maternal to Zygote Transition in Mice and Rats

This study uses single-cell RNA-seq to analyze transcriptomic changes during the maternal to zygote transition in mice and rats, revealing similar but distinct transcriptional programs in both species.

One-step RNA extraction for RT-qPCR detection of 2019-nCoV

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.