Thomas H. Massey

Targeted sequencing of expanded tandem repeats: Identifying interruptions and errors

The paper develops CHARLIE, a method to identify interruptions and errors in expanded tandem repeats using targeted sequencing, validated on Huntington's disease and myotonic dystrophy type 1 samples.

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects

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.

Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencing

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

Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1

The paper identifies a tandem hexamer repeat in TCERG1 that modifies age at motor onset in Huntington's disease, explaining the effect of a previously associated SNP.

FAN1 nuclease activity affects CAG expansion and age at onset of Huntington's disease

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 timing and impact of psychiatric, cognitive and motor abnormalities in Huntington's disease

This study examines the prevalence, timing, and functional impact of psychiatric, cognitive, and motor symptoms in Huntington's disease gene carriers using clinical data from a large cohort.

Genetic risk underlying psychiatric and cognitive symptoms in Huntington’s Disease

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.

Huntington's disease onset is determined by length of uninterrupted CAG, not encoded polyglutamine, and is modified by DNA maintenance mechanisms

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.