Children's Hospital of Philadelphia Medical Genetics and Genomics/Pediatrics

Topics

• Congenital heart defects research 276
• Lipoproteins and Cardiovascular Health 169
• Genetic Associations and Epidemiology 156
• Genomics and Rare Diseases 153
• Genomic variations and chromosomal abnormalities 150
• Mitochondrial Function and Pathology 116
• Diabetes, Cardiovascular Risks, and Lipoproteins 108
• Genetic Syndromes and Imprinting 97
• Metabolism and Genetic Disorders 94
• Asthma and respiratory diseases 64
• Cholesterol and Lipid Metabolism 64
• Genetics and Neurodevelopmental Disorders 61

Most cited

1. Mapping genomic loci implicates genes and synaptic biology in schizophrenia.

   Nature · 2022 · 2,203 citations · Hakon Hakonarson

2. Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease.

   The New England journal of medicine · 2025 · 275 citations · Kim Ng, Rebecca Ahrens-Nicklas

3. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.

   Nature · 2024 · 489 citations · Daniel J. Rader

4. A saturated map of common genetic variants associated with human height.

   Nature · 2022 · 662 citations · Hakon Hakonarson, Daniel J. Rader

5. The power of genetic diversity in genome-wide association studies of lipids.

   Nature · 2021 · 795 citations · Hakon Hakonarson, Daniel J. Rader

6. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).