Jennifer Orthmann‐Murphy

机构：University of Pennsylvania · ORCID：0000-0002-2909-1722

发表论文 48 篇 · 总被引 1900 次 · h-index 16

代表论文

• Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource (2023 · Molecular Genetics and Metabolism · 被引 46)
• Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States (2024 · Cytotherapy · 被引 26)
• Disparities in Genetic Testing for Neurologic Disorders (2024 · Neurology · 被引 26)
• Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts (2023 · Journal of Neurology · 被引 21)
• Mutations in the human CSF1R gene impact microglia’s maintenance of brain white matter integrity (2025 · Nature Immunology · 被引 18)
• Beyond relapses: How BTK inhibitors are shaping the future of progressive MS treatment (2025 · Neurotherapeutics · 被引 11)