ArticleNature genetics2025
In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease.
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Article in Nature genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34citing papers in PubMed
–field-weighted citation impact
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Who cites it
34 citing papers in PubMed.
- TRACE: Open-source software for quantifying somatic variation of tandem repeats by capillary electrophoresis.Journal of Huntington's disease · 2026Article
- Towards AI-driven prediction ofJournal of Huntington's disease · 2026Article
- Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanism.PNAS nexus · 2026Article
- Double strand breaks drive toxicity in a Huntington's disease mouse model with or without somatic expansion.Nature communications · 2026Article
- Molecular features of a Huntington's disease knock-in minipig.Disease models & mechanisms · 2026Article
- Mechanism of MutLβ-dependent DNA expansions.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Self-inactivating AAV-CRISPR at different ages enables sustained amelioration of Huntington's disease deficits in BAC226Q mice.Science advances · 2026Article
- Expanding repeats, expanding impact: Somatic instability in myotonic dystrophy type 1.Journal of neuromuscular diseases · 2026Review
- Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- USP7 deubiquitinase stabilizes FAN1 to support DNA crosslink repair and suppress CAG repeat expansion.Nature communications · 2026Article
- CrisprPr: a hybrid-driven framework for CRISPR/Cas9 off-target prediction with analysis of prior-information updates.Briefings in bioinformatics · 2026Article
- Article
- TRACE: Open-Source Software for Quantifying Somatic Variation of Tandem Repeats by Capillary Electrophoresis.bioRxiv : the preprint server for biology · 2026Article
- MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.American journal of human genetics · 2026Article
- The Application and Challenges of Stem Cell-Derived Extracellular Vesicles in Inhalation Lung Injury.International journal of nanomedicine · 2026Review
- Empirical optimization of dual-sgRNA design for in vivo CRISPR/Cas9-mediated exon deletion in mice.Computational and structural biotechnology journal · 2026Article
- Huntington disease: somatic expansion, pathobiology and therapeutics.Nature reviews. Neurology · 2026Review
- Clinical Trials and Translational Advances in Metabolic Targeting.Cancer treatment and research · 2026Review
- A shared DNA-repeat toxicity threshold, reached somatically at cell-type-specific rates, unites cortical and striatal neurodegeneration in Huntington's disease.bioRxiv : the preprint server for biology · 2025Article
- Base excision repair within structure-forming repeat sequences and its impact on cancer and other diseases.NAR cancer · 2025Review
Corrections and comments
- Update of
Authors and funding
22 authors.
Ricardo Mouro PintoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. rmouropinto@mgh.harvard.edu.ORCID 0000-0001-6744-2805
Ryan MurthaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
António AzevedoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Cameron DouglasCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0003-2334-1652
Marina KovalenkoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Jessica UlloaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Steven CrescentiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Zoe BurchCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Esaria OliverCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Maheswaran KesavanCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Shota ShibataCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-9131-5408
Antonia VitaloCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Eduarda Mota-SilvaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Marion J RiggsCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-7310-1107
Kevin CorreiaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Emanuela EleziCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Brigitte DemeloCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Jeffrey B CarrollDepartment of Neurology, University of Washington, Seattle, WA, USA.
Tammy GillisCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
James F GusellaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0003-0681-9263
Marcy E MacDonaldCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Vanessa C WheelerCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. vwheeler@mgh.harvard.edu.ORCID 0009-0004-8259-5796
Funding
VectorP30CA006516 · NCI · DANA-FARBER CANCER INSTITUTE · PI Irene M. Ghobrial · 1985 to 2026
$330.6MHuntington's Disease Repeat Instability and PathogenesisR01NS049206 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI VANESSA C WHEELER · 2005 to 2026
$10.0MDisease-Modifying Genes in Huntington's DiseaseR01NS091161 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI JAMES F GUSELLA · 2015 to 2026
$7.2MSomatic Repeat Expansions as a Therapeutic Target for Trinucleotide Repeat DisordersR01NS126420 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI Ricardo Mouro Pinto · 2022 to 2026
$2.0MHuntington's disease gene chromatin structure and modifiersR21NS111066 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI WHEELER, VANESSA C · 2019 to 2019
$476kNCI NIH HHS P30 CA006516NINDS NIH HHS R01 NS049206NINDS NIH HHS R01 NS091161NINDS NIH HHS R01 NS126420NINDS NIH HHS R21 NS111066U.S. Department of Health & Human Services | National Institutes of Health (NIH) NS049206U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health (OER) NS049206U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health (OER) NS091161U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health (OER) NS111066U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health (OER) NS126420
Abstract
Huntington's disease, one of more than 50 inherited repeat expansion disorders
Indexed as
CRISPR-Cas SystemsGene EditingGenes, ModifierHuntington DiseaseTrinucleotide Repeat ExpansionAnimalsDisease Models, AnimalGene Knock-In TechniquesGenomic InstabilityHumansHuntingtin ProteinMiceMice, TransgenicHuntingtin Protein
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.