Icahn School of Medicine at Mount Sinai Medical Genetics and Genomics

Topics

• Lysosomal Storage Disorders Research 131
• Metabolism and Genetic Disorders 96
• Craniofacial Disorders and Treatments 87
• Porphyrin Metabolism and Disorders 58
• BRCA gene mutations in cancer 56
• Genetics and Neurodevelopmental Disorders 45
• Kruppel-like factors research 43
• Mitochondrial Function and Pathology 42
• Genomics and Rare Diseases 41
• Cleft Lip and Palate Research 31
• Hypothalamic control of reproductive hormones 28
• Congenital heart defects research 16

Most cited

1. Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline.

   Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2024 · 101 citations · Huma Rana

2. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann-Pick disease types A, B and A/B).

   Orphanet journal of rare diseases · 2023 · 74 citations · Margaret McGovern

3. Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor.

   Antioxidants (Basel, Switzerland) · 2023 · 73 citations · Jose Abdenur

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

   Cells · 2023 · 62 citations · Reymundo Lozano

5. Update on the Porphyrias.

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

6. Uptake of Cancer Genetic Services for Chatbot vs Standard-of-Care Delivery Models: The BRIDGE Randomized Clinical Trial.

   JAMA network open · 2024 · 42 citations · Meenakshi Sigireddi