Duke University Hospital Medical Biochemical Genetics

Topics

• Lysosomal Storage Disorders Research 278
• Glycogen Storage Diseases and Myoclonus 97
• Congenital heart defects research 46
• Genomics and Rare Diseases 44
• Metabolism and Genetic Disorders 40
• Down syndrome and intellectual disability research 30
• Alkaline Phosphatase Research Studies 24
• Genetics and Neurodevelopmental Disorders 24
• Genomic variations and chromosomal abnormalities 17
• Virus-based gene therapy research 15
• Mitochondrial Function and Pathology 14
• Prenatal Screening and Diagnostics 9

Most cited

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

   Nature · 2024 · 102 citations · Dwight Koeberl

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

   Bone · 2024 · 56 citations · Priya Kishnani

3. 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

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

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

5. In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

   The New England journal of medicine · 2022 · 96 citations · Jennifer Cohen, Priya Kishnani

6. Glycogen storage diseases.

   Nature reviews. Disease primers · 2023 · 72 citations · Priya Kishnani