Irini Manoli

机构：National Institutes of Health, National Human Genome Research Institute, Metabolic Solutions · ORCID：0000-0003-1543-2941

发表论文 120 篇 · 总被引 3746 次 · h-index 34

代表论文

• Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology (2024 · Molecular Psychiatry · 被引 12)
• 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)
• Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation (2024 · JCI Insight · 被引 6)
• Severe heart failure in a unique case of cobalamin-C-deficiency resolved with LVAD implantation and subsequent heart transplantation (2024 · Molecular Genetics and Metabolism Reports · 被引 4)
• Disparate language and model effects on AI-based translation and recognition of genetic conditions (2026 · Journal of the American Medical Informatics Association · 被引 2)
• Breath biopsy in inborn errors of metabolism: A proof-of-principle study in propionic acidemia (2024 · Molecular Genetics and Metabolism · 被引 2)