Lauren Fitzpatrick

The paper introduces a single-cell DNA methylation sequencing method that improves resolution and accuracy compared to existing techniques.

The paper investigates how TBK1 missense variants affect TDP-43 mislocalization and OPTN binding in FTD and ALS, finding that loss of OPTN binding is more critical than kinase activity.

This study develops a programmable nanopore sequencing assay for diagnosing all known pathogenic STRs in a single test, accurately diagnosing 27 patients with neurogenetic disorders.

This paper develops an automated method to quantify TDP-43 and FUS mislocalization in human cell lines to assess the pathogenicity of FTD and ALS gene variants.