University of Wisconsin Hospitals and Clinics Medical Genetics and Genomics

Topics

• Metabolism and Genetic Disorders 120
• Cholesterol and Lipid Metabolism 56
• Connective tissue disorders research 50
• Genomics and Rare Diseases 44
• Lysosomal Storage Disorders Research 34
• BRCA gene mutations in cancer 22
• Genomic variations and chromosomal abnormalities 22
• DNA Repair Mechanisms 21
• Vascular Malformations and Hemangiomas 21
• Mitochondrial Function and Pathology 19
• Prenatal Screening and Diagnostics 13
• Microtubule and mitosis dynamics 10

Most cited

1. LGBTQ+ health education for medical students in the United States: a narrative literature review.

   Medical education online · 2024 · 38 citations · Elizabeth Petty

2. The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

   Nature cancer · 2023 · 99 citations · Stephen Meyn

3. A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.

   Orphanet journal of rare diseases · 2021 · 136 citations · Kim Keppler-Noreuil

4. Once-Weekly Navepegritide in Children With Achondroplasia: The APPROACH Randomized Clinical Trial.

   JAMA pediatrics · 2026 · 10 citations · Janet Legare

5. Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.

   The Journal of pediatrics · 2024 · 18 citations · Kim Keppler-Noreuil

6. Mitochondrial dysfunction in nonalcoholic fatty liver disease and alcohol related liver disease.

   Translational gastroenterology and hepatology · 2021 · 103 citations · Pankaj Prasun

7. Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

   Med (New York, N.Y.) · 2025 · 20 citations · Janet Legare

8. A dyadic approach to the delineation of diagnostic entities in clinical genomics.

   American journal of human genetics · 2021 · 100 citations · Kim Keppler-Noreuil