Jennifer L. Sloan

机构：National Human Genome Research Institute · ORCID：0000-0003-4520-0949

发表论文 117 篇 · 总被引 2977 次 · h-index 33

代表论文

• Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia (2023 · Journal of Inherited Metabolic Disease · 被引 42)
• Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology (2024 · Molecular Psychiatry · 被引 12)
• Systemic gene therapy using an AAV44.9 vector rescues a neonatal lethal mouse model of propionic acidemia (2023 · Molecular Therapy — Methods & Clinical Development · 被引 10)
• Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant (2023 · Differentiation · 被引 8)
• Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: A novel SMS gene variant (2023 · Rare · 被引 7)
• Adeno-Associated Virus Gene Therapy Development: Early Planning and Regulatory Considerations to Advance the Platform Vector Gene Therapy Program (2025 · Human Gene Therapy · 被引 6)