Ammar S. Naqvi

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.

NRCAM variant defined by microexon skipping is a targetable cell surface proteoform in high-grade gliomas

The paper identifies a NRCAM proteoform with skipped microexons as a targetable surface antigen in pHGG and demonstrates its utility in immunotherapy.

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.

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.

The role of SRSF3 splicing factor in generating circular RNAs

The paper investigates the role of SRSF3 in circRNA biogenesis and identifies its impact on circRNA production and potential involvement in hematologic malignancies.