Emory University School of Medicine Medical Genetics and Genomics

Topics

• Metabolism and Genetic Disorders 145
• Lysosomal Storage Disorders Research 64
• Connective tissue disorders research 50
• Genomic variations and chromosomal abnormalities 21
• Genomics and Rare Diseases 20
• Tuberous Sclerosis Complex Research 19
• Fibroblast Growth Factor Research 18
• Mitochondrial Function and Pathology 16
• Muscle metabolism and nutrition 13
• Congenital heart defects research 11
• Folate and B Vitamins Research 8
• Genetics and Neurodevelopmental Disorders 8

Most cited

1. Phenylketonuria.

   Nature reviews. Disease primers · 2021 · 388 citations · Nicola Longo

2. 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

3. 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, Nicola Longo

4. Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial.

   Lancet (London, England) · 2024 · 41 citations · Nicola Longo

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

   Neurology · 2023 · 66 citations · Nicola Longo

6. Phenylketonuria and the brain.

   Molecular genetics and metabolism · 2023 · 55 citations ·