University of Utah Health Medical Biochemical Genetics

Topics

• Metabolism and Genetic Disorders 152
• Neurofibromatosis and Schwannoma Cases 107
• Genomics and Rare Diseases 62
• Genomic variations and chromosomal abnormalities 53
• Folate and B Vitamins Research 45
• Prenatal Screening and Diagnostics 45
• Williams Syndrome Research 42
• Congenital Heart Disease Studies 35
• Cerebrovascular and Carotid Artery Diseases 31
• Lysosomal Storage Disorders Research 31
• Congenital Anomalies and Fetal Surgery 27
• Vector-borne infectious diseases 18

Most cited

1. 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

2. Phenylketonuria.

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

3. 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

4. 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

5. New-onset IgG autoantibodies in hospitalized patients with COVID-19.

   Nature communications · 2021 · 390 citations · Rong Mao

6. Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.

   Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2024 · 73 citations ·