University of Utah Health Molecular Genetic Pathology (Multidisciplinary)

Topics

• Genomics and Rare Diseases 60
• Acute Myeloid Leukemia Research 31
• BRCA gene mutations in cancer 30
• Genetic factors in colorectal cancer 26
• Lymphoma Diagnosis and Treatment 24
• Cancer Genomics and Diagnostics 21
• Immunodeficiency and Autoimmune Disorders 20
• Hemoglobinopathies and Related Disorders 19
• Genomic variations and chromosomal abnormalities 17
• Erythrocyte Function and Pathophysiology 16
• HER2/EGFR in Cancer Research 15
• Neuroscience and Music Perception 15

Most cited

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

   Nature communications · 2021 · 390 citations · Rong Mao

2. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.

   American journal of human genetics · 2024 · 86 citations · Brian Shirts

3. DNA Methylation Profiling: An Emerging Paradigm for Cancer Diagnosis.

   Annual review of pathology · 2022 · 228 citations · Antonios Papanicolau-Sengos

4. Returning integrated genomic risk and clinical recommendations: The eMERGE study.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2023 · 123 citations · Brian Shirts

5. Evaluation of 3,606 renal cell tumors for TFE3 rearrangements and TFEB alterations via fluorescence in situ hybridization, next generation sequencing, and GPNMB immunohistochemistry.

   Human pathology · 2025 · 22 citations · Katherine Geiersbach

6. Impact of the methylation classifier and ancillary methods on CNS tumor diagnostics.

   Neuro-oncology · 2022 · 84 citations · Antonios Papanicolau-Sengos