Tomoki T. Nomakuchi

The paper identifies a higher prevalence of NF1 pathogenic variants using a genotype-first approach, finding many cases with somatic mosaicism and increased cancer risk.

NeuroTri2-VISDOT provides a web-based tool to explore second trimester human single-cell RNA sequencing data for Mendelian neurodevelopmental disorders, aiding in model system selection.

The paper shows that combining an ASO with HDAC inhibitors enhances SMN2 exon 7 inclusion in SMA mice, improving SMN expression and function.

This study develops a cocktail of ASOs to specifically increase CFTR W1282X mRNA and protein levels by inhibiting NMD, improving chloride current in human bronchial epithelial cells.