John Hopkins University Medical Genetics and Genomics/Pediatrics

Topics

• Connective tissue disorders research 237
• Cystic Fibrosis Research Advances 183
• Genomics and Rare Diseases 77
• Metabolism and Genetic Disorders 71
• Genetic and Kidney Cyst Diseases 48
• Peroxisome Proliferator-Activated Receptors 47
• Neonatal and fetal brain pathology 46
• BRCA gene mutations in cancer 45
• Prenatal Screening and Diagnostics 43
• Mitochondrial Function and Pathology 41
• Genetics and Neurodevelopmental Disorders 39
• Genomic variations and chromosomal abnormalities 39

Most cited

1. The Human Phenotype Ontology in 2024: phenotypes around the world.

   Nucleic acids research · 2024 · 320 citations · Ada Hamosh

2. Prevalence of Hearing Loss and Hearing Aid Use Among US Medicare Beneficiaries Aged 71 Years and Older.

   JAMA network open · 2023 · 115 citations · Julie Hoover-Fong

3. Precision Education: The Future of Lifelong Learning in Medicine.

   Academic medicine : journal of the Association of American Medical Colleges · 2024 · 62 citations · Sanjay Desai

4. Assisted reproductive technology: Short- and long-term outcomes.

   Developmental medicine and child neurology · 2023 · 133 citations · Ernie Graham

5. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

   Nature reviews. Endocrinology · 2022 · 130 citations · Julie Hoover-Fong

6. Cardiolipin, Mitochondria, and Neurological Disease.

   Trends in endocrinology and metabolism: TEM · 2021 · 227 citations · Hilary Vernon

7. In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis.