Robert A. Kesterson

The paper presents and characterizes human cell lines with NF1 gene variants for studying neurofibromin function, phenotypes, and drug development.

This paper evaluates AAV serotypes for delivering U7-SnRNA to induce NF1 exon 17 skipping in mice, finding AAV-F is most effective in brain and AAV-B1 in sciatic nerve.

This paper shows that Cys1 gene mutations cause ARPKD by altering Myc expression, using mouse models and a human patient case.

This study identifies a non-coding variant in SCN1A that causes aberrant inclusion of a poison exon, leading to reduced Nav1.1 expression and Dravet syndrome in a mouse model.

This study shows that systemic loss of neurofibromin in adult mice causes metabolic dysfunction and death, indicating roles beyond tumor suppression.