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Science Translational Medicine|February 12, 2025
Antisense oligonucleotide-mediated MSH3 suppression reduces somatic CAG repeat expansion in Huntington's disease iPSC-derived striatal neuronsEmma L Bunting, Jasmine Donaldson, Sarah A Cumming, et al.Proceedings of the National Academy of Sciences of the United States of America|April 12, 2024
Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's diseaseKyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, et al.Brain Communications|March 7, 2024
Modification of Huntington's disease by short tandem repeatsEun Pyo Hong, Eliana Marisa Ramos, N Ahmad Aziz, et al.JAMA Ophthalmology|March 13, 2025
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and SeveritySiyin Liu, Amanda N Sadan, Nihar Bhattacharyya, et al.NAR Genomics and Bioinformatics|December 8, 2022
Repeat Detector: versatile sizing of expanded tandem repeats and identification of interrupted alleles from targeted DNA sequencingAlysha S Taylor, Dinis Barros, Nastassia Gobet, et al.Human Mutation|October 15, 2019
A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotypeAlfonsina Ballester-Lopez, Emma Koehorst, Miriam Almendrote, et al.American Journal of Human Genetics|March 24, 2022
Genetic modifiers of Huntington disease differentially influence motor and cognitive domainsJong-Min Lee, Yuan Huang, Michael Orth, et al.Nature Medicine|January 17, 2025
Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosisRachael I Scahill, Mena Farag, Michael J Murphy, et al.Nature Neuroscience|April 5, 2022
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onsetBranduff McAllister, Jasmine Donaldson, Caroline S Binda, et al.Biological Psychiatry|February 24, 2020
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington's DiseaseNatalie Ellis, Amelia Tee, Branduff McAllister, et al.Pageof 10