UPMC Medical Education Medical Biochemical Genetics

Topics

• Metabolism and Genetic Disorders 298
• Mitochondrial Function and Pathology 50
• Genomics and Rare Diseases 27
• Genetics and Neurodevelopmental Disorders 17
• Genomic variations and chromosomal abnormalities 17
• Lysosomal Storage Disorders Research 15
• Alkaline Phosphatase Research Studies 9
• BRCA gene mutations in cancer 8
• Congenital heart defects research 8
• Hippo pathway signaling and YAP/TAZ 7
• Amino Acid Enzymes and Metabolism 6
• Connective tissue disorders research 6

Most cited

1. Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2025 · 46 citations · Jerry Vockley

2. Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.

   Journal of medical genetics · 2024 · 42 citations · Damara Ortiz

3. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

   Neurology · 2023 · 66 citations · Jerry Vockley

4. Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.

   JAMA · 2023 · 68 citations · Jerry Vockley

5. Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.

   Molecular genetics and metabolism reports · 2024 · 30 citations · Jerry Vockley

6. Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study.

   Nature metabolism · 2021 · 128 citations ·