Children's National Hospital Medical Genetics and Genomics

Topics

• Metabolism and Genetic Disorders 100
• Mitochondrial Function and Pathology 42
• Genomics and Rare Diseases 38
• Genetics and Neurodevelopmental Disorders 27
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 26
• Genomic variations and chromosomal abnormalities 26
• Lysosomal Storage Disorders Research 21
• Sleep and Wakefulness Research 20
• Hedgehog Signaling Pathway Studies 15
• Craniofacial Disorders and Treatments 11
• Connective tissue disorders research 10
• Prenatal Screening and Diagnostics 9

Most cited

1. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

   Nature · 2024 · 113 citations · Seth Berger, Jamie Fraser, Christina Grant

2. Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.

   American journal of human genetics · 2025 · 42 citations · Seth Berger

3. Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

   American journal of human genetics · 2023 · 113 citations · Seth Berger

4. Newer Pharmacologic Treatments in Adults With Type 2 Diabetes: A Systematic Review and Network Meta-analysis for the American College of Physicians.

   Annals of internal medicine · 2024 · 52 citations · Charles Billington

5. Opportunities, barriers, and recommendations in down syndrome research.

   Translational science of rare diseases · 2021 · 90 citations · Amy Lewanda

6. Mondo: integrating disease terminology across communities.

   Genetics · 2026 · 23 citations ·