Khushbu Patel

The paper introduces GAVURD, a system to identify putative pathogenic non-coding variants in unresolved rare disease patients using trio whole genome sequencing and TAD data, and identifies six potentially causal variants in ten probands.

This study shows BPTF works with MYCN and MYC to control cell cycle and epigenetic states in neuroblastoma, linking it to poor prognosis and therapeutic potential.

The paper provides ChIP-Seq and ATAC-Seq data for MYCN, MYC, and histone marks in neuroblastoma cell lines to study gene regulation and enhancer dynamics.

This paper genomically characterizes 261 pediatric cancer patient-derived xenograft models to guide rational clinical trial design and drug development.