Hope Northrup

机构：Memorial Hermann, The University of Texas Health Science Center, The University of Texas Health Science Center at Houston · ORCID：0000-0002-2892-0840

发表论文 287 篇 · 总被引 19500 次 · h-index 51

代表论文

• Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program (2024 · Molecular Genetics and Metabolism Reports · 被引 20)
• Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results (2024 · Annals of the Child Neurology Society · 被引 18)
• ARMC5 controls the degradation of most Pol II subunits, and ARMC5 mutation increases neural tube defect risks in mice and humans (2024 · Genome biology · 被引 18)
• The contribution of de novo coding mutations to meningomyelocele (2025 · Nature · 被引 15)
• Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial (2024 · Pediatric Neurology · 被引 12)
• Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex (2024 · Epilepsia · 被引 11)