Zalman Vaksman

This study characterizes the molecular differences in high-grade endometrial cancer across an ancestrally diverse cohort, identifying ancestry-associated mutations and immune microenvironment differences.

AutoGVP classifies germline variants using ClinVar and modified InterVar criteria, enabling large-scale variant pathogenicity assessment in research.

This study identifies BARD1 germline variants associated with reduced BARD1 expression and DNA repair defects in neuroblastoma, showing haploinsufficiency and increased genomic instability.

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.

This study identifies 13.9% of neuroblastoma patients with pathogenic germline variants in cancer predisposition genes, associated with worse survival and enriched in DNA repair genes like BARD1.

This study identifies somatic structural variations in neuroblastoma, showing their enrichment in neurodevelopmental genes and the tumor suppressor role of SHANK2.

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