Stanford Health Care-Sponsored Stanford University Medical Genetics and Genomics

Topics

• Metabolism and Genetic Disorders 153
• Genomics and Rare Diseases 72
• Neurofibromatosis and Schwannoma Cases 61
• Acute Myeloid Leukemia Research 51
• Mitochondrial Function and Pathology 51
• Lysosomal Storage Disorders Research 48
• Parathyroid Disorders and Treatments 46
• Prenatal Substance Exposure Effects 42
• Genomic variations and chromosomal abnormalities 40
• Bone health and osteoporosis research 27
• Protein Tyrosine Phosphatases 24
• Genetic Syndromes and Imprinting 23

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 · David Stevenson

2. 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 · David Stevenson

3. The Human Disease Ontology 2022 update.

   Nucleic acids research · 2022 · 222 citations · Carol Greene

4. Biomni: A General-Purpose Biomedical AI Agent.

   bioRxiv : the preprint server for biology · 2025 · 65 citations · Jonathan Bernstein

5. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

   Nature · 2024 · 113 citations · Jonathan Bernstein

6. Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.

   The New England journal of medicine · 2022 · 164 citations · Jonathan Bernstein