Brigham and Women's Hospital Medical Genetics and Genomics/Maternal-Fetal Medicine

Topics

• Metabolism and Genetic Disorders 424
• BRCA gene mutations in cancer 246
• Genomics and Rare Diseases 240
• Prenatal Screening and Diagnostics 177
• Pregnancy and preeclampsia studies 114
• COVID-19 Impact on Reproduction 101
• Gestational Diabetes Research and Management 101
• Lysosomal Storage Disorders Research 98
• Congenital Heart Disease Studies 87
• Genomic variations and chromosomal abnormalities 83
• Genetics and Neurodevelopmental Disorders 66
• Down syndrome and intellectual disability research 63

Most cited

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

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

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

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

3. Variant interpretation using population databases: Lessons from gnomAD.

   Human mutation · 2022 · 551 citations · Anne O’Donnell

4. Clinical Considerations for Competitive Sports Participation for Athletes With Cardiovascular Abnormalities: A Scientific Statement From the American Heart Association and American College of Cardiology.

   Journal of the American College of Cardiology · 2025 · 112 citations · Katherine Economy

5. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

   American journal of human genetics · 2022 · 476 citations · Anne O’Donnell

6. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 526 citations ·