Karen Usdin

The paper shows that PMS2 has similar effects in two different repeat expansion disease models, supporting a common expansion mechanism across Repeat Expansion Diseases.

This paper investigates the role of MSH2 in DNA methylation and repeat contraction at the FMR1 locus in fragile X syndrome and finds that MSH2 is not required for DNA methylation maintenance but is associated with MSH2-independent repeat contractions.

This study investigates the role of double-strand break repair proteins in repeat expansion in Fragile X disease models and finds that loss of Pol θ, Rad52, Rad54l, or Rad54b does not significantly affect expansion.

This study examines somatic instability of the FGF14 GAA·TTC repeat in SCA27B, finding a cerebellar-specific expansion bias and increased instability in cerebellar regions compared to other brain areas.

The paper identifies a common flanking variant linked to increased meiotic stability at the FGF14-SCA27B repeat locus.

The paper identifies dynamic DNA secondary structures in vivo that contribute to genome instability by analyzing ssDNA converted to DSBs using S1-END-seq.