Baylor College of Medicine Medical Genetics and Genomics

Topics

• Genomics and Rare Diseases 377
• Metabolism and Genetic Disorders 286
• Genetics and Neurodevelopmental Disorders 275
• Genomic variations and chromosomal abnormalities 239
• Mitochondrial Function and Pathology 194
• Connective tissue disorders research 169
• Genetic Neurodegenerative Diseases 160
• Cardiac electrophysiology and arrhythmias 142
• Lysosomal Storage Disorders Research 142
• Prenatal Screening and Diagnostics 110
• Muscle Physiology and Disorders 109
• Pancreatic and Hepatic Oncology Research 109

Most cited

1. Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease.

   The New England journal of medicine · 2025 · 275 citations · Petros Giannikopoulos

2. Emerging issues in probiotic safety: 2023 perspectives.

   Gut microbes · 2023 · 318 citations · Geoffrey Preidis

3. Nosology of genetic skeletal disorders: 2023 revision.

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

4. A DNA methylation atlas of normal human cell types.

   Nature · 2023 · 488 citations · Markus Grompe

5. Phase II Randomized Trial of Transoral Surgery and Low-Dose Intensity Modulated Radiation Therapy in Resectable p16+ Locally Advanced Oropharynx Cancer: An ECOG-ACRIN Cancer Research Group Trial (E3311).

   Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022 · 418 citations · Bert O'Malley

6. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

   Pediatric neurology · 2021 · 553 citations · Hope Northrup