Sharon J. Diskin

MOSAIC: Learning Graph Node Embeddings from Spectrally Isolated Dominant Subspaces of Accumulated Diffusion Operators

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

Alternative splicing in pediatric central nervous system tumors highlights oncofetal candidate CLK1 exon 4

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.

A genome-wide association study in Chinese children identifies and functionally validates 5q31.1 as a neuroblastoma susceptibility locus

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

Identification of DLK1, a Notch ligand, as an immunotherapeutic target and regulator of tumor cell plasticity and chemoresistance in adrenocortical carcinoma

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 - Integrative prioritization of cell surface targets for cancer immunotherapy

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

The Open Pediatric Cancer Project

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.

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification

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

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma

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

OpenPBTA: An Open Pediatric Brain Tumor Atlas

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.

Germline pathogenic variants in 786 neuroblastoma patients

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.

Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma

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

Epigenomic profiling of neuroblastoma cell lines

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.

Genomic profiling of childhood tumor patient-derived xenograft models to enable rational clinical trial design

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