Darren G. Monckton

The paper develops URSA, a method to quantify DNA repair activity at the CAG repeat tract in HD, showing it correlates with somatic instability and can be measured rapidly in blood cells.

The paper investigates allele-specific expression of ATXN3 in blood samples of Machado-Joseph disease carriers, finding lineage-dependent allelic imbalance and its potential impact on age at onset.

The paper introduces a new assay called TRX to monitor CAG*CTG triplet repeat expansions more rapidly and sensitively than existing methods.

The paper identifies genetic modifiers of somatic CAG expansion and clinical phenotypes in Huntington's disease, revealing shared and tissue-specific effects on disease timing and pathogenic processes.

The paper quantifies age-related somatic expansion of the ATXN3 CAG repeat in blood and buccal cells of SCA3 patients, revealing strong age associations and genetic polymorphism effects.

This study identifies non-kidney disease associations with APOL1 G1/G2 compound heterozygosity and reveals distinct effects of G1 and G2 homozygosity on kidney-related outcomes.

Repeat Detector accurately measures expanded tandem repeats and identifies interrupted alleles in targeted DNA sequencing data from Huntington's disease patients.

The paper identifies FAN1 nuclease activity as a modifier of CAG expansion and age at onset in Huntington's disease through exome sequencing and functional validation.

The paper develops a statistical framework to evaluate mRNA biomarkers for DM1 treatment efficacy using machine learning and microarray data.

The paper investigates genetic risk factors for psychiatric and cognitive symptoms in Huntington’s Disease using polygenic risk scores and finds associations between specific psychiatric risk scores and corresponding symptoms.

This study shows that the length of uninterrupted CAG repeats, not the encoded polyglutamine segment, determines Huntington's disease onset, and DNA maintenance genes modify this process.