Joseph G. Gleeson

机构：Rush University Medical Center, Children’s Institute, UC San Diego Health System, University of California San Diego, Rady Children's Hospital-San Diego, Universidad Católica Santo Domingo, Rady Children's Institute for Genomic Medicine · ORCID：0000-0002-0889-9220

发表论文 479 篇 · 总被引 34470 次 · h-index 100

代表论文

• A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases (2024 · Nature Communications · 被引 31)
• The contribution of de novo coding mutations to meningomyelocele (2025 · Nature · 被引 15)
• Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders (2025 · medRxiv · 被引 13)
• A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders (2025 · Cell stem cell · 被引 11)
• Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder (2025 · The American Journal of Human Genetics · 被引 10)
• Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies (2025 · medRxiv · 被引 9)