Children's Hospital of Philadelphia Medical Biochemical Genetics

Topics

• Metabolism and Genetic Disorders 85
• Lysosomal Storage Disorders Research 69
• Mitochondrial Function and Pathology 40
• Genomics and Rare Diseases 34
• Glycosylation and Glycoproteins Research 28
• Folate and B Vitamins Research 18
• Craniofacial Disorders and Treatments 10
• Genetics and Neurodevelopmental Disorders 10
• CRISPR and Genetic Engineering 9
• Cardiomyopathy and Myosin Studies 8
• Genomic variations and chromosomal abnormalities 8
• Biochemical Acid Research Studies 6

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, Rebecca Ahrens-Nicklas

2. Health Supervision for Children and Adolescents With Down Syndrome.

   Pediatrics · 2022 · 229 citations · Samantha Vergano

3. Current clinical applications of AAV-mediated gene therapy.

   Molecular therapy : the journal of the American Society of Gene Therapy · 2025 · 87 citations · Rebecca Ahrens-Nicklas

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

   American journal of human genetics · 2021 · 181 citations · Tara Wenger

5. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

   HGG advances · 2022 · 145 citations · Samantha Vergano

6. Perspectives of Rare Disease Experts on Newborn Genome Sequencing.

   JAMA network open · 2023 · 43 citations · Rebecca Ganetzky