Manish J. Butte

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

This study identifies genetic and transcriptomic factors associated with severe coccidioidomycosis, finding a founder variant in NLRX1 linked to African ancestry and increased disease risk.

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 paper demonstrates that providing T cells with cellobiose as an exclusive fuel source restores their anti-tumor functions and improves tumor growth suppression in mice.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

The paper explores the relationship between genomic ancestry and health outcomes using a biobank linked to electronic health records, finding disease stratification across ancestry clusters.

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.