Adam J. de Smith

This paper introduces CT-FM and CT-FM-SNP methods to identify causal cell types and variants for diseases, finding most SNPs affect traits via a single cell type set.

The paper uses single-cell multiomic analysis to identify genetic variants and regulatory disruptions linked to childhood B-cell acute lymphoblastic leukemia.

The paper uses CRISPR and single-cell transcriptomics to study how inherited variants in B-cell development contribute to childhood leukemia.

The paper identifies RAG-mediated structural variants as a risk factor for relapse in pediatric B-ALL and T-ALL, independent of MRD status.

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.

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 evaluates polygenic risk scores for childhood ALL in Latinos, finding similar performance between non-Latino white and Latino samples but lower accuracy than a conventional model using known ALL-associated loci.

This study identifies 136 genes/eRNA/proteins associated with ischemic stroke risk using integrative transcriptome-wide association analysis across multiple tissues and finds potential therapeutic candidates.

The paper introduces SCAVENGE, a method mapping causal variants to cellular contexts at single-cell resolution, identifying disease-relevant cell types and mechanisms.

This study identifies five novel genetic loci associated with childhood acute lymphoblastic leukemia through a trans-ethnic meta-analysis across four ethnic groups.

This study identifies genetic variants influencing blood cell traits linked to increased susceptibility to childhood acute lymphoblastic leukemia.