James F. Gusella

Broad Institute — United States

Neuroscience · Life Sciences

132h-index73.5kcitations726works8.42yr avg
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Research Topics

Genetic Neurodegenerative Diseases(242), Mitochondrial Function and Pathology(143), Genomic variations and chromosomal abnormalities(89), Neurological disorders and treatments(85), Neurofibromatosis and Schwannoma Cases(83)

Publications720 total

CRISPR-engineered deletion of <i>POGZ</i> alters transcription factor binding at promoters of genes involved in synaptic signaling
2025· 1 citedOpen Access
Genetic dissection of Huntington’s disease modification by variation at <i>RRM2B</i>
Human Molecular Genetics·2025
Aberrant recursive splicing in a human disease locus
2025Open Access
Huntington’s disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion
2025Open Access
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease highlight shared and tissue-specific effects
Nature Genetics·2025· 26 citedOpen Access
Presenilin 1 hemizygosity has no overt deleterious phenotypic outcomes in sheep: Potential implications for therapeutic targets in Alzheimer's disease
Neurobiology of Aging·2025· 1 citedOpen Access
In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s disease
Nature Genetics·2025· 38 citedOpen Access
Significant underascertainment in Huntington’s disease
Brain Communications·2025· 1 citedOpen Access
Unlocking Brigatinib’s Potential: A Remarkable Case of Drug Repurposing in NF2-SWN
Pharmaceutical science.·2024· 1 citedOpen Access
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
The American Journal of Human Genetics·2024· 15 citedOpen Access
C014 The influence of rs3512 on miR-124–3p mediated regulation of FAN1 expression
2024Open Access
C005 Identification of genetic modifiers of HTT CAG repeat somatic expansion in blood: a genome-wide association study in a large cohort of Huntington disease expansion-carriers
2024
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effects
2024· 19 citedOpen Access
Identification of genetic modifiers of Huntington’s disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing
2024· 13 citedOpen Access
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
Human Molecular Genetics·2024· 7 citedOpen Access
Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat
Nature Communications·2024· 33 citedOpen Access
Posttranscriptional regulation of <i>FAN1</i> by miR-124-3p at rs3512 underlies onset-delaying genetic modification in Huntington’s disease
Proceedings of the National Academy of Sciences·2024· 10 citedOpen Access
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
The American Journal of Human Genetics·2024· 1 citedOpen Access
Huntington's disease genetics: Implications for pathogenesis
Elsevier eBooks·2024
Contributors
Elsevier eBooks·2024
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Frequent Co-authors

Rudolph E. Tanzi(10), Richard H. Myers(8), Marcy E. MacDonald(8), Jonathan L. Haines(7), Peter St George‐Hyslop(6), Yiping Shen(6), Diane Lucente(6), Ira Shoulson(5), Wendy Hobbs(5), Bernd R. Seizinger(5), Guy A. Rouleau(5), Allen D. Roses(4), P. Michael Conneally(4), Lauren A. Weiss(4), Douglas M. Ruderfer(4), Laurie J. Ozelius(4), Michael E. Talkowski(4), Hyung‐Goo Kim(4), Susan A. Slaugenhaupt(3), Nancy S. Wexler(3)