Jamie L. Fraser

机构：Children's National · ORCID：0000-0002-7794-8903

发表论文 75 篇 · 总被引 2893 次 · h-index 23

代表论文

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome (2024 · Nature · 被引 128)
• Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States (2024 · Cytotherapy · 被引 26)
• Mondo: integrating disease terminology across communities (2025 · Genetics · 被引 23)
• Genome-wide profiling of highly similar paralogous genes using HiFi sequencing (2025 · Nature Communications · 被引 13)
• Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency (2024 · Neurology · 被引 13)
• Advance Care Planning for Children With Rare Diseases: A Pilot RCT (2024 · PEDIATRICS · 被引 11)