Smita Bhatia

Trans-ancestral genetic study of diabetes mellitus risk in survivors of childhood cancer: a report from the St. Jude Lifetime Cohort and the Childhood Cancer Survivor Study

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.

Genome-wide association studies reveal novel locus with sex-/therapy-specific fracture risk effects in childhood cancer survivors

The paper identifies a novel genetic locus associated with fracture risk in childhood cancer survivors, with effects specific to sex and therapy, using genome-wide association studies.

Effects of NT5C2 germline variants on 6-mecaptopurine metabolism in children with acute lymphoblastic leukemia

This study identifies NT5C2 germline variants affecting 6-MP metabolism in ALL patients, showing two independent variants influence TGN levels.

Generalizability of "GWAS hits" in clinical populations: Lessons from childhood cancer survivors

The paper evaluates the generalizability of GWAS findings in childhood cancer survivors and finds limited replication of meta-GWAS hits in these populations.

Massive parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity

The paper identifies 1,103 deleterious NUDT15 variants using functional assays, improving pharmacogenetics-guided thiopurine treatment by accurately predicting toxicity risk alleles.

Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing

This paper introduces VAMP-seq, a method to assess the abundance of protein variants, and identifies pathogenic variants in PTEN and TPMT.