UPMC Medical Education Neurodevelopmental Disabilities

Topics

• Epilepsy research and treatment 42
• Multiple Sclerosis Research Studies 17
• Congenital Heart Disease Studies 14
• Pharmacological Effects and Toxicity Studies 14
• Lysosomal Storage Disorders Research 13
• Muscle Physiology and Disorders 13
• Genetics and Neurodevelopmental Disorders 11
• Neonatal and fetal brain pathology 9
• Neurological disorders and treatments 9
• Down syndrome and intellectual disability research 7
• Genomics and Rare Diseases 7
• Metabolism and Genetic Disorders 7

Most cited

1. ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma.

   Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025 · 90 citations · Sarah Chagnon

2. Influenza-Associated Acute Necrotizing Encephalopathy in US Children.

   JAMA · 2025 · 28 citations · Kavita Thakkar

3. Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

   JAMA neurology · 2022 · 74 citations · Sarah Chagnon, Yoshimi Sogawa

4. An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.

   The New England journal of medicine · 2026 · 8 citations · Deepa Rajan

5. Assessment and Diagnosis of Down Syndrome Regression Disorder: International Expert Consensus.

   Frontiers in neurology · 2022 · 57 citations · Robyn Filipink

6. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 86 citations ·