Mark G. Lathrop

This study shows that USP15 deletion in astrocytes and microglia reduces neuroinflammation and slows synucleinopathy progression in mice, with human data linking USP15 expression to Parkinson's disease risk.

The paper evaluates genotype imputation accuracy in multi-ancestry reference panels and finds that the Rsq metric overestimates dosage r2 due to systematic bias in imputation quality.

The paper identifies two molecular subtypes of Lung Carcinoids using integrative omic analysis and describes their distinct genetic and epigenetic features.

The paper investigates the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 and finds no significant association.

The paper reports a detailed genetic and genomic map of multiple sclerosis, identifying susceptibility genes in peripheral immune cells and brain-resident microglia.

This paper identifies novel pleiotropic risk loci for melanoma and nevus density, implicating multiple biological pathways and gene expression under MITF regulation.

The paper identifies low-frequency coding variants contributing to multiple sclerosis risk using a large case-control study.

The paper identifies NOTCH1 variants as a major genetic contributor to non-syndromic Tetralogy of Fallot, with 6% of patients carrying deleterious variants.