Phillip B. Storm

A longitudinal single-cell and spatial multiomic atlas of pediatric high-grade glioma

This study creates a longitudinal multiomic atlas of pediatric high-grade glioma, revealing distinct tumor cell states and therapeutic targets not seen in adult glioblastoma.

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.

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.

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.

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.

annoFuse: an R Package to annotate, prioritize, and interactively explore putative oncogenic RNA fusions

annoFuse filters and prioritizes oncogenic gene fusions from RNA-Seq data, improving identification of clinically relevant fusions in cancer datasets.