Icahn School of Medicine at Mount Sinai Internal Medicine/Medical Genetics and Genomics

Topics

• Craniofacial Disorders and Treatments 85
• Lysosomal Storage Disorders Research 72
• Metabolism and Genetic Disorders 63
• Porphyrin Metabolism and Disorders 57
• Genomics and Rare Diseases 43
• Genetics and Neurodevelopmental Disorders 40
• Cleft Lip and Palate Research 30
• Mitochondrial Function and Pathology 28
• BRCA gene mutations in cancer 15
• Congenital heart defects research 14
• Genomic variations and chromosomal abnormalities 13
• Chromosomal and Genetic Variations 11

Most cited

1. Genetic testing for the epilepsies: A systematic review.

   Epilepsia · 2022 · 134 citations · Louise Bier

2. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

   Cells · 2023 · 62 citations · Reymundo Lozano

3. Update on the Porphyrias.

   Annual review of medicine · 2024 · 36 citations · Manisha Balwani

4. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.

   Gastroenterology · 2023 · 60 citations · Manisha Balwani

5. Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.

   Journal of the American Academy of Dermatology · 2023 · 35 citations · Manisha Balwani

6. Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

   Science (New York, N.Y.) · 2024 · 42 citations · Ethylin Jabs

7. Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial.