Duke University Hospital Medical Genetics and Genomics

Topics

• Lysosomal Storage Disorders Research 282
• Glycogen Storage Diseases and Myoclonus 97
• Metabolism and Genetic Disorders 62
• Congenital heart defects research 53
• Genomics and Rare Diseases 44
• Transplantation: Methods and Outcomes 32
• Mechanical Circulatory Support Devices 31
• Down syndrome and intellectual disability research 30
• Genetics and Neurodevelopmental Disorders 30
• Alkaline Phosphatase Research Studies 25
• Genomic variations and chromosomal abnormalities 17
• Virus-based gene therapy research 15

Most cited

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

   The New England journal of medicine · 2025 · 275 citations · Kim Ng

2. 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 · Wendy Smith

3. Interim analyses of a first-in-human phase 1/2 mRNA trial for propionic acidaemia.

   Nature · 2024 · 102 citations · Dwight Koeberl

4. The Global ALPL gene variant classification project: Dedicated to deciphering variants.

   Bone · 2024 · 56 citations · Priya Kishnani

5. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.

   The Lancet. Neurology · 2021 · 153 citations · Priya Kishnani

6. Targeted long-read sequencing identifies missing disease-causing variation.

   American journal of human genetics · 2021 · 181 citations · Priya Kishnani