Emory University School of Medicine Medical Biochemical Genetics

Topics

• Lysosomal Storage Disorders Research 56
• Connective tissue disorders research 48
• Tuberous Sclerosis Complex Research 19
• Fibroblast Growth Factor Research 17
• Metabolism and Genetic Disorders 17
• Genomics and Rare Diseases 13
• Genomic variations and chromosomal abnormalities 13
• Congenital heart defects research 10
• Osteoarthritis Treatment and Mechanisms 7
• Glycogen Storage Diseases and Myoclonus 6
• Bone Metabolism and Diseases 5
• Craniofacial Disorders and Treatments 5

Most cited

1. Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.

   The Lancet. Child & adolescent health · 2024 · 64 citations · William Wilcox

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 · William Wilcox

3. The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2023 · 74 citations · Mari Mori

4. Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life.

   Genetics in medicine : official journal of the American College of Medical Genetics · 2024 · 20 citations · William Wilcox

5. Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study.

   Med (New York, N.Y.) · 2025 · 20 citations · William Wilcox

6. Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.