University of Alabama Hospital (Birmingham) Medical Genetics and Genomics/Pediatrics

Topics

• Neurofibromatosis and Schwannoma Cases 105
• Genomics and Rare Diseases 60
• BRCA gene mutations in cancer 51
• Genomic variations and chromosomal abnormalities 30
• Genetics and Neurodevelopmental Disorders 25
• Prenatal Screening and Diagnostics 23
• Maternal and Perinatal Health Interventions 19
• Congenital heart defects research 17
• Craniofacial Disorders and Treatments 17
• Hearing, Cochlea, Tinnitus, Genetics 14
• Metabolism and Genetic Disorders 14
• Cleft Lip and Palate Research 13

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 · Bruce Korf

2. The All of Us Research Program: Data quality, utility, and diversity.

   Patterns (New York, N.Y.) · 2022 · 314 citations · Bruce Korf

3. 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 · Bruce Korf

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 · Bruce Korf

5. Attitudes Toward COVID-19 Illness and COVID-19 Vaccination among Pregnant Women: A Cross-Sectional Multicenter Study during August-December 2020.

   American journal of perinatology · 2022 · 98 citations · Akila Subramaniam

6. Genetic regulation of OAS1 nonsense-mediated decay underlies association with COVID-19 hospitalization in patients of European and African ancestries.

   Nature genetics · 2022 · 125 citations ·