Tadashi Kaname

This study identifies two CREBBP variants causing Menke-Hennekam syndrome that increase HAT activity but disrupt phase separation differently, with HAT inhibition restoring condensate dynamics in one variant.

This study identifies biallelic LARS1 variants as a cause of infantile liver failure by showing they induce steatosis via enhanced autophagy in zebrafish.

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.

This study uses whole-genome sequencing of 9,850 Japanese samples to analyze genetic diversity, revealing population declines and natural selection linked to agriculture and food production.

The paper benchmarks difficult-to-sequence regions in the human exome using machine learning and real-world NGS data from gnomAD to improve clinical sequencing accuracy.

This study identifies plexin-B3+ oligodendrocyte precursor cells as potential amyloid beta-secreting cells in Alzheimer's disease.