Publications by authors named "James Gusella"

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Genetic dissection of Huntington's disease modification by variation at RRM2B.
Kiuk Lee, Baehyun Shin, Mingyu Kim, Seong Won Lee, Young Mi Oh, James F Gusella

Hum Mol Genet· November 2025

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CRISPR-engineered deletion of alters transcription factor binding at promoters of genes involved in synaptic signaling.
Mariana Moyses-Oliveira, Yating Liu, Serkan Erdin, Dadi Gao, Riya Bhavsar, James F Gusella

bioRxiv· October 2025

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Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease.
Natasha E Mckean, Jun Liu, Skye R Rudiger, Jennifer M Kelly, Clive McLaughlan, James F Gusella

Neurobiol Aging· August 2025

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Aberrant recursive splicing in a human disease locus.
Philip M Boone, Ricardo Harripaul, Rachita Yadav, Michael Grzybowski, Mahmoud K Hanafy, James F Gusella

bioRxiv· August 2025

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Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.
Eunhye Lee, Wonju Kim, David H Beier, Yejin Lee, Marina Kovalenko, James F Gusella

bioRxiv· July 2025

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Significant underascertainment in Huntington's disease.
Sujin Lee, Ben Weisburd, Jiwoo Lee, Kevin Correia, Sophia Zeng, James F Gusella

Brain Commun· May 2025

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In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease.
Ricardo Mouro Pinto, Ryan Murtha, António Azevedo, Cameron Douglas, Marina Kovalenko, James F Gusella

Nat Genet· February 2025

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Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Yulia Mostovoy, Philip M Boone, Yongqing Huang, Kiran V Garimella, Kar-Tong Tan, James Gusella

Am J Hum Genet· December 2024

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Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model.
Andrew Jiang, Linya You, Renee R Handley, Victoria Hawkins, Suzanne J Reid, James F Gusella

Hum Mol Genet· August 2024

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Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.
Ricardo Mouro Pinto, Ryan Murtha, António Azevedo, Cameron Douglas, Marina Kovalenko, James F Gusella

bioRxiv· June 2024

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Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease reveal shared and tissue-specific effects.

bioRxiv· June 2024

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Posttranscriptional regulation of by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington's disease.
Kyung-Hee Kim, Eun Pyo Hong, Yukyeong Lee, Zachariah L McLean, Emanuela Elezi, James F Gusella

Proc Natl Acad Sci U S A· April 2024

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Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
Zachariah L McLean, Dadi Gao, Kevin Correia, Jennie C L Roy, Shota Shibata, James F Gusella

Nat Commun· April 2024

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Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Derek J C Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, James F Gusella

Am J Hum Genet· March 2024

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Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.
Xander Nuttle, Nicholas D Burt, Benjamin Currall, Mariana Moysés-Oliveira, Kiana Mohajeri, James F Gusella

Cell Rep Methods· January 2024

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Modification of Huntington's disease by short tandem repeats.
Eun Pyo Hong, Eliana Marisa Ramos, N Ahmad Aziz, Thomas H Massey, Branduff McAllister, James F Gusella

Brain Commun· January 2024

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Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment.
Fang Liu, Chen Liang, Zhengchang Li, Sen Zhao, Haiming Yuan, James F Gusella

Brain· August 2023

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as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.
Zachariah L McLean, Dadi Gao, Kevin Correia, Jennie C L Roy, Shota Shibata, James F Gusella

bioRxiv· July 2023

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A Cdk5-derived peptide inhibits Cdk5/p25 activity and improves neurodegenerative phenotypes.
Ping-Chieh Pao, Jinsoo Seo, Audrey Lee, Oleg Kritskiy, Debasis Patnaik, James F Gusella

Proc Natl Acad Sci U S A· April 2023

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CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.
Emanuela Kerschbamer, Michele Arnoldi, Takshashila Tripathi, Miguel Pellegrini, Samuele Maturi, James F Gusella

Nucleic Acids Res· December 2022

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Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Kiana Mohajeri, Rachita Yadav, Eva D'haene, Philip M Boone, Serkan Erdin, James F Gusella

Am J Hum Genet· November 2022

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Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Derek J C Tai, Parisa Razaz, Serkan Erdin, Dadi Gao, Jennifer Wang, James F Gusella

Am J Hum Genet· October 2022

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Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
Sergey V Lobanov, Branduff McAllister, Mia McDade-Kumar, G Bernhard Landwehrmeyer, Michael Orth, James F Gusella

NPJ Genom Med· September 2022

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A cross-disorder dosage sensitivity map of the human genome.
Ryan L Collins, Joseph T Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, James F Gusella

Cell· August 2022

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Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration.
Jong-Min Lee, Marcy E MacDonald, James F Gusella

Am J Hum Genet· July 2022

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