University of California Davis Health Medical Genetics and Genomics

Topics

• Protein Tyrosine Phosphatases 68
• Genomic variations and chromosomal abnormalities 29
• Lysosomal Storage Disorders Research 26
• Genomics and Rare Diseases 24
• Genetics and Neurodevelopmental Disorders 15
• Metabolism and Genetic Disorders 14
• Genetic Syndromes and Imprinting 11
• Melanoma and MAPK Pathways 9
• Neurofibromatosis and Schwannoma Cases 9
• Mitochondrial Function and Pathology 8
• Cancer Genomics and Diagnostics 7
• Virus-based gene therapy research 7

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 · Katherine Rauen

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 · Katherine Rauen

3. Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.

   American journal of human genetics · 2021 · 214 citations · Madelena Martin, Katherine Rauen, Suma Shankar

4. MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.

   Neuro-oncology · 2022 · 89 citations · Katherine Rauen

5. Defining RASopathy.

   Disease models & mechanisms · 2022 · 58 citations · Katherine Rauen