McGaw Medical Center of Northwestern University Medical Genetics and Genomics

Topics

• Lysosomal Storage Disorders Research 75
• Neurofibromatosis and Schwannoma Cases 41
• Metabolism and Genetic Disorders 33
• Genomics and Rare Diseases 21
• Connective tissue disorders research 12
• Protein Tyrosine Phosphatases 12
• Congenital heart defects research 10
• BRCA gene mutations in cancer 9
• Genetics and Neurodevelopmental Disorders 8
• Genomic variations and chromosomal abnormalities 8
• Mitochondrial Function and Pathology 7
• Adrenal and Paraganglionic Tumors 6

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 · Joel Charrow

2. Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID.

   Pediatrics · 2024 · 28 citations · Angelique Mercier

3. 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 · Carlos Prada

4. 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 · Carlos Prada

5. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?

   Molecular genetics and metabolism · 2022 · 52 citations · Carlos Prada

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

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 82 citations ·