Children's Hospital of Philadelphia Medical Genetics and Genomics

Topics

• Congenital heart defects research 290
• Heterotopic Ossification and Related Conditions 193
• Genomic variations and chromosomal abnormalities 180
• Genomics and Rare Diseases 176
• Lipoproteins and Cardiovascular Health 170
• Genetic Associations and Epidemiology 167
• Mitochondrial Function and Pathology 146
• BRCA gene mutations in cancer 140
• Metabolism and Genetic Disorders 127
• Genetic Syndromes and Imprinting 118
• Cancer, Hypoxia, and Metabolism 115
• Diabetes, Cardiovascular Risks, and Lipoproteins 108

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 · Christina Wright, 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. Nuclear GTPSCS functions as a lactyl-CoA synthetase to promote histone lactylation and gliomagenesis.

   Cell metabolism · 2025 · 180 citations · Ralph DeBerardinis

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