Sharon J. Diskin

MOSAIC learns graph node embeddings by analyzing dominant spectral components of diffusion operators, outperforming existing methods in biomedical graph tasks.

The paper analyzes splicing in 729 pediatric brain tumors, identifies splicing-defined subgroups, and highlights CLK1 exon 4 as an oncofetal event linked to tumor prognosis.

This paper identifies and validates 5q31.1 as a neuroblastoma susceptibility locus in Chinese children through GWAS and functional studies.

This paper identifies DLK1 as a novel immunotherapeutic target in adrenocortical carcinoma, showing it regulates tumor cell plasticity and chemoresistance, and demonstrates the efficacy of a DLK1-targeting antibody-drug conjugate.

IMMUNOTAR prioritizes and identifies immunotherapeutic targets by integrating RNA-sequencing and proteomics data with public databases to evaluate surface proteins across diverse criteria.

The paper introduces OpenPedCan, a harmonized multi-omic dataset of pediatric cancer patients, providing integrated genomic, transcriptomic, and proteomic data for research and clinical applications.

This study identifies DLK1 as a potential immunotherapeutic target in neuroblastoma through integrative proteomic, transcriptomic, and epigenomic analysis.

This paper describes a collaborative model between young investigators and cancer advocates to enhance pediatric cancer research through improved communication and team science.

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.

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.