Boston Children’s Hospital Medical Genetics and Genomics/Pediatrics

Topics

• Metabolism and Genetic Disorders 424
• Genomics and Rare Diseases 249
• BRCA gene mutations in cancer 241
• Lysosomal Storage Disorders Research 98
• Prenatal Screening and Diagnostics 86
• Genomic variations and chromosomal abnormalities 84
• Genetics and Neurodevelopmental Disorders 66
• Down syndrome and intellectual disability research 63
• Protein Tyrosine Phosphatases 62
• Genetic Syndromes and Imprinting 55
• Congenital Heart Disease Studies 52
• Folate and B Vitamins Research 52

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. 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

5. 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 · Lauren Massingham

6. Health Supervision for Children and Adolescents With Down Syndrome.

   Pediatrics · 2022 · 229 citations · Ingrid Holm