Douglas R. Stewart

The paper identifies non-coding variants in CDKN2B that disrupt CTCF binding, reduce CDKN2A expression, and increase melanoma risk in families.

This study evaluates cancer risk and mortality in individuals with PALB2 pathogenic variants using genomic data from two cohorts, finding increased cancer odds and mortality.

The paper develops and characterizes semi-immortalized Schwann cell lines from NF1-associated cutaneous neurofibromas to aid in studying and developing therapies for NF1.

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

This paper reviews literature and analyzes case data to estimate cancer risk in Cardiofaciocutaneous Syndrome (CFC) patients, finding elevated but limited cancer risk in early childhood.

The paper identifies rare germline copy-number variants associated with retinoblastoma risk outside the RB1 gene using whole-genome sequencing and statistical analysis.

This study quantifies cancer risk and prevalence in adults with germline pathogenic variants in RASopathy genes using genomic data from three biobanks.

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

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 uses genomic ascertainment to determine the prevalence and clinical features of pathogenic UBA1 variants in a population-based cohort, finding higher prevalence and expressivity than previously reported.

The paper identifies a novel NRAS variant in a melanoma-prone family and shows it impairs MAPK/AKT signaling while enhancing PI3K signaling.