Philip J. Lupo

The paper uses DNA methylation profiling to identify distinct subsets within rhabdomyosarcoma subtypes, revealing clinical and genetic differences among them.

This study identifies 14 susceptibility loci for Ewing sarcoma through a genome-wide association meta-analysis, revealing genetic interactions with somatic EWSR1::FLI1 fusions.

The paper maps human DNA replication origins using whole-genome sequencing data, identifying a 16 bp motif and periodicity, and links replication activity to gene expression and genetic variation.

This study investigates the impact of Indigenous American-like ancestry on acute lymphoblastic leukemia risk in Hispanic/Latino children, finding no global association but significant local haplotype effects.

The paper identifies trans-heterozygous digenic variants in laterality defect genes using exome/genome sequencing data from CHD cohorts, finding significant enrichment in laterality cases compared to controls.

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

This study performs genome-wide association analyses of congenital heart defects in Down syndrome, identifying suggestive loci associated with specific heart defect subtypes.

The paper identifies sex-specific DNA methylation differences in newborns with Down syndrome and major congenital heart defects compared to those without defects.

This study identifies novel diabetes risk loci in childhood cancer survivors using whole-genome sequencing and shows higher risk for African ancestry survivors with risk alleles.