Kosuke Izumi

Expanding clinical and variant spectrum of CBX1-related syndrome: Report of three novel cases

This paper reports three novel de novo CBX1 variants in patients with developmental delay and describes genotype-phenotype correlations.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

Human Germline Heterozygous Gain-of-Function STAT6 Variants Cause Severe Allergic Disease

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder

This study identifies de novo CBX1 variants in three individuals with neurodevelopmental features and shows they cause dominant-negative effects by disrupting HP1β chromatin binding.

Dissecting the functions of NIPBL using genome editing: The importance of the N-terminus of NIPBL in transcriptional regulation

This study uses CRISPR/Cas9 to generate NIPBL mutants and shows that the N-terminus of NIPBL is critical for transcriptional regulation by interacting with MAU2.