University of California (San Francisco) School of Medicine Medical Genetics and Genomics/Pediatrics

Topics

• Congenital Diaphragmatic Hernia Studies 39
• Neonatal Respiratory Health Research 29
• Genomics and Rare Diseases 21
• Pulmonary Hypertension Research and Treatments 16
• Genomic variations and chromosomal abnormalities 12
• Congenital Heart Disease Studies 11
• Prenatal Screening and Diagnostics 11
• Lysosomal Storage Disorders Research 10
• Metabolism and Genetic Disorders 10
• Genetics and Neurodevelopmental Disorders 8
• Congenital heart defects research 7
• Connective tissue disorders research 7

Most cited

1. Transfer learning enables predictions in network biology.

   Nature · 2023 · 696 citations · Christina Theodoris

2. How to build the virtual cell with artificial intelligence: Priorities and opportunities.

   Cell · 2024 · 219 citations · Christina Theodoris

3. Targeted long-read sequencing identifies missing disease-causing variation.

   American journal of human genetics · 2021 · 181 citations · Irene Chang

4. Characterisation of paediatric pulmonary hypertensive vascular disease from the PPHNet Registry.

   The European respiratory journal · 2022 · 95 citations · Roberta Keller

5. AI-guided precision parenteral nutrition for neonatal intensive care units.

   Nature medicine · 2025 · 25 citations · Roberta Keller

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

   American journal of human genetics · 2021 · 100 citations · Joseph Shieh

7. Melanoma classification and management in the era of molecular medicine.

   Dermatologic clinics · 2023 · 52 citations ·