Stephen R. Spellman

Autoreactomes in Healthy Individuals Vary According to HLA Class II Genotype

This study identifies distinct autoreactomes in healthy individuals based on HLA-DRB1 genotype using PhIP-Seq, showing genotype-specific autoantibody profiles and potential pathogenic autoantibodies before disease onset.

Donor whole blood DNA methylation is not a strong predictor of acute graft versus host disease in unrelated donor allogeneic haematopoietic cell transplantation

This study investigates whether donor DNA methylation can predict acute graft-versus-host disease (aGVHD) in HCT, finding that a classifier developed from methylation data failed to validate in an independent cohort.

Associations of Minor Histocompatibility Antigens with Clinical Outcomes Following Allogeneic Hematopoietic Cell Transplantation

This study investigates the association between predicted minor histocompatibility antigens (mHAs) and clinical outcomes in allogeneic hematopoietic cell transplantation using multivariate survival models.

Genome-wide association analyses identify variants in IRF4 associated with acute myeloid leukemia and myelodysplastic syndrome susceptibility

This study identifies IRF4 variants associated with increased risk of de novo AML and MDS through GWAS and TWAS analyses using the DISCOVeRY-BMT cohorts.

The clinical and functional effects of TERT variants in myelodysplastic syndrome

The paper identifies TERT rare variants in MDS patients, showing shorter telomeres, younger age at diagnosis, and worse survival, suggesting their role in MDS pathogenesis and transplant outcomes.

A Detailed View of KIR Haplotype Structures and Gene Families as Provided by a New Motif-based Multiple Sequence Alignment

The paper generates and aligns KIR haplotypes at high resolution, defines them as 14 loci with 9 genes, and applies the alignments in software tools for haplotype annotation and genotyping.

Revealing Complete Complex KIR Haplotypes Phased By Long-Read Sequencing Technology

The paper uses long-read sequencing to phase and sequence sixteen KIR haplotypes from eight individuals, revealing novel structures and variants.