Boxun Zhao

The paper identifies inverted Alu pairs that promote exon skipping through RNA stem-loop structures and shows their evolutionary significance in hominoid genomes.

The paper develops a framework to detect and trace somatic retrotransposition events in human tissues, identifying rare L1 insertions and improving detection accuracy.

This study investigates RFX3's role in human neurons, showing that monoallelic loss disrupts synaptic gene expression and activity-dependent responses by impairing CREB binding.

The paper develops a cell type-aware framework to identify non-coding variants in Mendelian disorders by integrating single-cell multi-omic data and applying it to congenital cranial dysinnervation disorders.

The paper identifies somatic driver mutations in microglia of Alzheimer's disease brains, showing increased clonal expansion and inflammatory signatures.

The paper identifies rare somatic mutations in sporadic ALS and FTD cases, suggesting they contribute to disease and widespread neurodegeneration.

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

The paper reanalyzes data from a study claiming somatic APP gene copy number gains in AD neurons, finding evidence of contamination by recombinant vectors instead of true somatic retrotransposition.

The paper profiles somatic L1Hs insertions in Rett patients and healthy controls, finding increased insertions in the brain and altered genomic patterns linked to MECP2 dysfunction.