University of Iowa Health Care Medical Center Medical Genetics and Genomics/Pediatrics

Topics

• Genetic and Kidney Cyst Diseases 86
• Glaucoma and retinal disorders 46
• Retinal Development and Disorders 44
• Genomic variations and chromosomal abnormalities 27
• Genomics and Rare Diseases 20
• Hearing, Cochlea, Tinnitus, Genetics 17
• Inflammasome and immune disorders 16
• Autism Spectrum Disorder Research 13
• Lysosomal Storage Disorders Research 13
• Neurofibromatosis and Schwannoma Cases 12
• Congenital heart defects research 10
• Metabolism and Genetic Disorders 9

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 · Alpa Sidhu

2. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.

   Journal of medical genetics · 2024 · 42 citations · John Bernat

3. Gene therapy and gene correction: targets, progress, and challenges for treating human diseases.

   Gene therapy · 2022 · 105 citations · Val Sheffield

4. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

   Molecular genetics and metabolism · 2022 · 52 citations · John Bernat

5. A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies.

   Journal of inherited metabolic disease · 2025 · 15 citations · John Bernat

6. Consensus Recommendation for Mouse Models of Ocular Hypertension to Study Aqueous Humor Outflow and Its Mechanisms.

   Investigative ophthalmology & visual science · 2022 · 47 citations ·