Topics

• Tuberous Sclerosis Complex Research 83
• Folate and B Vitamins Research 19
• Metabolism and Genetic Disorders 16
• BRCA gene mutations in cancer 15
• Spinal Dysraphism and Malformations 12
• Genomic variations and chromosomal abnormalities 11
• Prenatal Screening and Diagnostics 11
• Genetics and Neurodevelopmental Disorders 9
• Glycogen Storage Diseases and Myoclonus 6
• Genetic Syndromes and Imprinting 5
• Genomics and Rare Diseases 5
• Fetal and Pediatric Neurological Disorders 4

Most cited

1. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

   Pediatric neurology · 2021 · 553 citations · Hope Northrup

2. Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.

   Annals of neurology · 2023 · 72 citations · Hope Northrup

3. Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.

   Molecular genetics and metabolism reports · 2024 · 30 citations · Hope Northrup

4. An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript.

   Science translational medicine · 2023 · 77 citations · Paul Hillman

5. Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

   Journal of inherited metabolic disease · 2025 · 22 citations · Heather Saavedra

6. Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.

   Nature metabolism · 2023 · 61 citations · Hope Northrup