Ichizo Nishino

This study compares CRISPR/Cas9-targeted nanopore sequencing approaches for characterizing repeat expansions in DM1 and OPDM, showing the impact of basecalling strategies and identifying somatic mosaicism and hypermethylation.

The paper investigates how genetic and epigenetic variations in CGG repeats affect OPDM patient phenotypes, finding complex relationships between repeat size, sequence context, and methylation.

The paper identifies SNUPN variants causing spinocerebellar atrophy by disrupting splicing in Purkinje cells through impaired U1 snRNP nuclear transport.

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

The paper identifies a DNAJB4 variant causing chaperonopathy in skeletal muscle, leading to muscle weakness and specific pathological features in type 1 fibers.

This study uses Nanopore CRISPR/Cas9-targeted resequencing to diagnose FSHD by detecting D4Z4 repeat length and methylation status, finding significant hypomethylation in contracted repeats and its correlation with disease phenotype.

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.