Xinming Zhuo

CNVision is a computational framework that automates the interpretation of intragenic copy number variants by standardizing input parsing, transcript mapping, and reading-frame classification.

This study shows that reducing Ube3a-ATS with antisense oligonucleotides rescues EEG rhythms and sleep in Angelman syndrome mouse models, suggesting a broader therapeutic window than previously believed.

saks-nf simplifies Nextflow pipeline creation using JSON, enabling non-programmers to build and manage complex workflows without coding.

This study examines the effects of Ube3a gene dosage on circadian rhythms and sleep in Angelman syndrome mouse models, finding altered locomotor activity and sleep patterns.

This paper describes a method using amplicon-based sequencing to identify fetal cells and detect monogenic mutations in single circulating trophoblast cells for non-invasive prenatal testing.