Nucleic Acids Research, March 2021

Somatic CAG expansion in Huntington’s disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection

Roy JCL*, Vitalo A*, Andrew MA, Mota-Silva E, Kovalenko M, Burch Z, Nhu AM, Cohen PE, Grabczyk E, Wheeler VC, Mouro Pinto R.

Journal of Huntington’s Disease, December 2021

Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington’s Disease

Zhao X, Kumari D, Miller CJ, Kim, GY, Hayward B, Vitalo AG, Mouro Pinto R, Usdin K.

Human Molecular Genetics, November 2020

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out

Loupe JM, Mouro Pinto R, Kim KH, Gillis T, Mysore JS, Andrew MA, Kovalenko M, Murtha R, Seong I, Gusella JF, Kwak S, Howland D, Lee R, Lee JM, Wheeler VC, MacDonald ME.

Human Molecular Genetics, August 2020

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1

Mouro Pinto R*, Arning L*, Giordano JV*, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, von Hein SM, Clark HB, Nguyen HP, Förster E, Beller A, Haydaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC.

Scientific Reports, December 2019

Assessing average somatic CAG repeat instability at the protein level

Aviolat H, Mouro Pinto R, Godschall E, Murtha R, Richey HE, Sapp E, Vodicka P, Wheeler VC, Kegel-Gleason K, DiFiglia M.

Cell, August 2019

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium.

Genetics, February 2017

Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington’s Disease Knock-In Mice

Neto JL, Lee JM, Afridi A, Gillis T, Guide JR, Dempsey S, Lager B, Alonso I, Wheeler VC, Mouro Pinto R

Cell, July 2015

Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease

Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium

PLOS Genetics, October 2013

Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington’s Disease Mice: Genome-Wide and Candidate Approaches

Mouro Pinto R, Dragileva E, Kirby A, Lloret A, Lopez E, St. Claire J, Panigrahi GB, Hou C, Holloway K, Gillis T, Guide JR, Cohen PE, Li GM, Pearson CE, Daly MJ, Wheeler VC.