Baylor College of Medicine Medical Biochemical Genetics

Topics

• Metabolism and Genetic Disorders 147
• Connective tissue disorders research 108
• Mitochondrial Function and Pathology 77
• Genomics and Rare Diseases 57
• Genomic variations and chromosomal abnormalities 40
• Virus-based gene therapy research 27
• Genetics and Neurodevelopmental Disorders 24
• Osteoarthritis Treatment and Mechanisms 19
• Lysosomal Storage Disorders Research 17
• Bone Metabolism and Diseases 14
• Wnt/β-catenin signaling in development and cancer 14
• Sexual Differentiation and Disorders 13

Most cited

1. Nosology of genetic skeletal disorders: 2023 revision.

   American journal of medical genetics. Part A · 2023 · 303 citations · Reid Sutton

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

   Nature · 2024 · 113 citations · Lindsay Burrage

3. Leukocyte-Rich Platelet-Rich Plasma Is Predominantly Anti-inflammatory Compared With Leukocyte-Poor Platelet-Rich Plasma in Patients With Mild-Moderate Knee Osteoarthritis: A Prospective, Descriptive Laboratory Study.

   The American journal of sports medicine · 2023 · 57 citations · Brendan Lee

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

   Neurology · 2023 · 66 citations · Fernando Scaglia

5. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

   The Journal of clinical investigation · 2021 · 150 citations · Lindsay Burrage, Brendan Lee

6. Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

   Nature genetics · 2025 · 36 citations ·