Richard H Roxburgh

Quantification of X-chromosome inactivation in fibroblast and iPSC models of UBQLN2 ALS/FTD using allele-selective qPCR

The paper develops an allele-selective qPCR assay to quantify X-chromosome inactivation in iPSC models of UBQLN2 ALS/FTD and identifies clones retaining XCI for further study.

Loss of interruption in the HTT CAG repeat is associated with increased somatic expansion and loss of medium spiny neurons in HD

The paper shows that loss of interruption in HTT CAG repeats increases somatic expansion and MSN loss in HD, with greater effects in patients with CAG-CCG LOI.

STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci

STRling detects short tandem repeat expansions at known and novel loci using k-mer counting, achieving high sensitivity and base pair accuracy.