University of Iowa Health Care Medical Center Medical Genetics and Genomics

Topics

• Muscle Physiology and Disorders 100
• Genetic and Kidney Cyst Diseases 86
• Glaucoma and retinal disorders 46
• Retinal Development and Disorders 45
• Genetic Neurodegenerative Diseases 34
• Genomic variations and chromosomal abnormalities 27
• Genomics and Rare Diseases 20
• Hearing, Cochlea, Tinnitus, Genetics 18
• Inflammasome and immune disorders 16
• Autism Spectrum Disorder Research 13
• Neurofibromatosis and Schwannoma Cases 12
• Congenital heart defects research 10

Most cited

1. Mitochondrial dysfunction in neurodegenerative disorders.

   Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024 · 292 citations · Bharatendu Chandra

2. 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

3. Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

   The Lancet. Neurology · 2024 · 113 citations · Katherine Mathews

4. Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).

   Annals of neurology · 2021 · 248 citations · Katherine Mathews

5. Efficacy of Omaveloxolone in Friedreich's Ataxia: Delayed-Start Analysis of the MOXIe Extension.

   Movement disorders : official journal of the Movement Disorder Society · 2023 · 95 citations · Katherine Mathews

6. 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 ·