Yadav Sapkota

This study identifies OPA1's role in fatty acid release from lipid droplets and links its function to human metabolism.

This paper uses patient-derived hiPSC-CMs to identify cyproheptadine as a therapeutic for LMNA-related DCM by revealing shared and variant-specific disease mechanisms.

This study shows that disrupting non-canonical autophagy (LANDO) impairs endothelial and cardiac function by disrupting VEGFR2 recycling and Hb- expression.

The paper identifies SMARCAL1 as a novel predisposition gene for osteosarcoma by analyzing germline variants in DNA damage repair genes across childhood cancer cases.

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.

This study identifies 13 rare haplotypes associated with increased breast cancer risk using genome-wide haplotype-BCa association analysis in UK Biobank data, with partial generalizability in an independent cohort.

The paper identifies rare risk haplotypes associated with breast cancer that may misrepresent risk through common alleles, challenging the polygenic model.

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.

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