Peter E. Newburger

This study identifies specific mutational sequences in congenital neutropenia patients that predict leukemic transformation.

This paper develops a mouse model of severe congenital neutropenia caused by VPS45 mutations, showing similar neutropenia and functional defects as in humans.

This study identifies genetic mutations in 78% of Diamond-Blackfan anemia patients using whole exome sequencing, finds new RP genes, and reports genotype-phenotype associations.