Mihoko Shimada

The paper uses polygenic risk scores and Mendelian randomization to show circadian genetic factors contribute to idiopathic hypersomnia.

The paper investigates hypomethylation patterns in immune-mediated diseases, finding that solo-WCGW hypomethylation correlates with immune cell proliferation and disease-specific immune dynamics.

The paper identifies global hypomethylation in T cells of narcolepsy type 1 patients, linked to solo-WCGW motifs and T cell proliferation.

This study uses long-read sequencing to identify isoform-specific eQTLs in B cells, revealing new regulatory mechanisms and functional variants not detected by gene-level analysis.

The paper identifies region-specific gene isoforms in the human brain using long-read transcriptome sequencing and links them to DNA methylation patterns.

This study identifies a new susceptibility locus, PLA2G4C, for Multiple System Atrophy through a genome-wide association study and functional analysis of a risk variant.

This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.