James J. Dowling

机构：Children's Hospital of Philadelphia · ORCID：0000-0002-3984-4169

发表论文 384 篇 · 总被引 14775 次 · h-index 65

代表论文

• AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient (2024 · Nature Medicine · 被引 39)
• Delandistrogene Moxeparvovec Gene Therapy in Individuals With Duchenne Muscular Dystrophy: Evidence in Focus (2025 · Neurology · 被引 32)
• Exploring Integrin α5β1 as a Potential Therapeutic Target for Pulmonary Arterial Hypertension: Insights From Comprehensive Multicenter Preclinical Studies (2025 · Circulation · 被引 28)
• Standardization of zebrafish drug testing parameters for muscle diseases (2024 · Disease Models & Mechanisms · 被引 24)
• Loss of Mtm1 causes cholestatic liver disease in a model of X-linked myotubular myopathy (2023 · Journal of Clinical Investigation · 被引 21)
• A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods (2024 · Human Genetics and Genomics Advances · 被引 17)