Akiko Shimamura

Direct and indirect regulation of fetal globin transcript by RNA-binding protein IGF2BP1

This study identifies IGF2BP1 as a direct and indirect regulator of fetal globin transcripts through m6A modification and interaction with HIC2 and BCL11A.

Analyzing long-read CRISPR experiments with CRISPRLungo

CRISPRLungo is a computational pipeline for analyzing long-read CRISPR experiments, improving accuracy in detecting structural variants and small indels through UMI-based error correction and benchmarking.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

DPP9 deficiency: an inflammasomopathy which can be rescued by lowering NLRP1/IL-1 signaling

This study identifies DPP9 deficiency as a Mendelian disorder causing inflammasome hyperactivity, which can be rescued by reducing NLRP1/IL-1 signaling in mice.