Carol Van Ryzin

机构：National Human Genome Research Institute, Metabolic Solutions

发表论文 46 篇 · 总被引 1481 次 · h-index 18

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)
• Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis (2023 · Nature Genetics · 被引 38)
• The Platform Vector Gene Therapies Project: Increasing the Efficiency of Adeno-Associated Virus Gene Therapy Clinical Trial Startup (2020 · Human Gene Therapy · 被引 34)
• TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy (2021 · Human Genetics · 被引 29)
• Severity modeling of propionic acidemia using clinical and laboratory biomarkers (2021 · Genetics in Medicine · 被引 23)
• 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA) (2021 · Genetics in Medicine · 被引 17)