Harvard Medical School Medical Genetics and Genomics

Topics

• Metabolism and Genetic Disorders 485
• Genomics and Rare Diseases 301
• BRCA gene mutations in cancer 260
• Glioma Diagnosis and Treatment 151
• Tuberous Sclerosis Complex Research 151
• Lysosomal Storage Disorders Research 143
• Connective tissue disorders research 142
• Prenatal Screening and Diagnostics 114
• Renal cell carcinoma treatment 114
• Genomic variations and chromosomal abnormalities 102
• Mitochondrial Function and Pathology 87
• Genetics and Neurodevelopmental Disorders 76

Most cited

1. A genomic mutational constraint map using variation in 76,156 human genomes.

   Nature · 2024 · 1,364 citations · Anne O’Donnell

2. 2025 American Thyroid Association Management Guidelines for Adult Patients with Differentiated Thyroid Cancer.

   Thyroid : official journal of the American Thyroid Association · 2025 · 499 citations · Gregory Brent

3. Adjuvant Olaparib for Patients with BRCA1- or BRCA2-Mutated Breast Cancer.

   The New England journal of medicine · 2021 · 1,347 citations · Judy Garber

4. Transfer learning enables predictions in network biology.

   Nature · 2023 · 696 citations · Christina Theodoris

5. Gasdermin D permeabilization of mitochondrial inner and outer membranes accelerates and enhances pyroptosis.

   Immunity · 2023 · 471 citations · Thomas Michel

6. Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

   Nature genetics · 2022 · 614 citations · Deepak Atri

7. A pathology foundation model for cancer diagnosis and prognosis prediction.