Hongbo Michael Xie

The paper analyzes a large DNM1 cohort to identify mutational hotspots and genotype-phenotype correlations in DNM1-related disorder.

This study uses multiomic analysis to identify WNT pathway enrichment and transition cells in BWS hepatoblastoma, revealing unique tumor heterogeneity and potential targets for intervention.

The paper identifies DNA methylation differences associated with normalized fetal/placental weight ratios and links them to neurodevelopmental outcomes in neonates with congenital heart disease.

This study uses single-nucleus multiomic analysis to reveal PPARA signaling enrichment and metabolic dysfunction in BWS liver.

OpenPBTA provides a collaborative platform to genomically characterize 1,074 pediatric brain tumors and 22 cell lines, offering analysis modules and somatic datasets for research and clinical applications.

The paper identifies a recurrent de novo splice site variant in DNM1 exon 10a causing severe DEE through a dominant-negative mechanism, highlighting the importance of considering alternative isoforms in disease causation.