University of Utah Health Medical Genetics and Genomics

Topics

• Metabolism and Genetic Disorders 137
• Neurofibromatosis and Schwannoma Cases 115
• Genomic variations and chromosomal abnormalities 58
• Folate and B Vitamins Research 45
• Genomics and Rare Diseases 45
• Congenital Heart Disease Studies 40
• Prenatal Screening and Diagnostics 37
• Congenital Anomalies and Fetal Surgery 32
• Cerebrovascular and Carotid Artery Diseases 31
• Lysosomal Storage Disorders Research 23
• Congenital heart defects research 21
• Craniofacial Disorders and Treatments 19

Most cited

1. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.

   Autophagy · 2021 · 2,291 citations · Conan Kinsey

2. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 627 citations · David Viskochil

3. Phenylketonuria.

   Nature reviews. Disease primers · 2021 · 388 citations · Nicola Longo

4. 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 · David Viskochil

5. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2022 · 234 citations · David Viskochil

6. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

   Nature · 2024 · 113 citations · David Viskochil