Joshua D. Milner

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

This study identifies independent associations between IPF risk and rare variants, the MUC5B SNP, and polygenic scores, showing that telomere-associated common variants improve disease prediction and explain genetic heterogeneity in IPF.

This study identifies Th9 cells and IL-9R/STAT3 signaling as drivers of atherosclerosis in inflammatory conditions like psoriasis.

This study uses base editing to screen for variants affecting T cell anti-tumor functions, identifying mutations that enhance tumor elimination with minimal off-target effects.

This study determines individualized tryptase reference ranges by modeling BST levels based on TPSAB1 copy number, showing that elevated levels can indicate clonal myeloid neoplasms or be normal in HT carriers.

This study finds that children with critical illness and non-diagnostic whole exome sequencing may still carry risk variants in genes not previously associated with disease.