Stanford Health Care-Sponsored Stanford University Medical Biochemical Genetics

Topics

• Metabolism and Genetic Disorders 81
• Neurofibromatosis and Schwannoma Cases 59
• Genomics and Rare Diseases 56
• Mitochondrial Function and Pathology 46
• Prenatal Substance Exposure Effects 42
• Genomic variations and chromosomal abnormalities 33
• Protein Tyrosine Phosphatases 24
• Lysosomal Storage Disorders Research 23
• Connective tissue disorders research 22
• Genetic Syndromes and Imprinting 19
• Congenital heart defects research 13
• Vascular Malformations and Hemangiomas 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 · 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. Biomni: A General-Purpose Biomedical AI Agent.

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

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

   Nature · 2024 · 113 citations · Jonathan Bernstein

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

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

6. High-efficiency transgene integration by homology-directed repair in human primary cells using DNA-PKcs inhibition.

   Nature biotechnology · 2024 · 74 citations · Natalia Gomez-Ospina