University of California (San Francisco) Medical Genetics and Genomics

Topics

• Genomic variations and chromosomal abnormalities 105
• Prenatal Screening and Diagnostics 105
• Genetic and Kidney Cyst Diseases 97
• Metabolism and Genetic Disorders 94
• Genomics and Rare Diseases 83
• Protein Tyrosine Phosphatases 75
• dental development and anomalies 61
• Congenital Diaphragmatic Hernia Studies 56
• Mitochondrial Function and Pathology 56
• Neurofibromatosis and Schwannoma Cases 51
• Retinal Development and Disorders 51
• Lysosomal Storage Disorders Research 47

Most cited

1. Transfer learning enables predictions in network biology.

   Nature · 2023 · 696 citations · Christina Theodoris

2. 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 · Katherine Rauen

3. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 344 citations · Teresa Sparks

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

   Cell · 2024 · 219 citations · Christina Theodoris

5. 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 · Katherine Rauen

6. Assisted reproductive technology: Short- and long-term outcomes.

   Developmental medicine and child neurology · 2023 · 133 citations ·