Author
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Priya Prakash, Kerry C. Limberg, Weimin Zhang…·Shane Antony Liddelow
This study introduces a humanized mouse model of XDP with SVA_F insertion in TAF1, revealing myelin loss and oligodendrocyte dysfunction as key pathogenic features.
Alan Mejia Maza, Madison Hincher, Kevin Correia…·Vanessa Chantal Wheeler
This study identifies MSH3 as a genetic modifier of CCCTCT repeat instability in XDP, showing its impact on both expansion and contraction in blood and brain tissues.
Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav…·Vanessa Chantal Wheeler
The paper analyzes somatic instability of the CCCTCT repeat in XDP and finds repeat length-dependent expansion in brain regions, with regional patterns and similarities to HTT CAG repeat instability.