Johns Hopkins University Medical Biochemical Genetics

Topics

• Connective tissue disorders research 232
• Cystic Fibrosis Research Advances 182
• Peroxisome Proliferator-Activated Receptors 121
• Genomics and Rare Diseases 96
• Hemoglobinopathies and Related Disorders 84
• Metabolism and Genetic Disorders 82
• Genetic and Kidney Cyst Diseases 48
• Telomeres, Telomerase, and Senescence 45
• Mitochondrial Function and Pathology 42
• Genetics and Neurodevelopmental Disorders 40
• Hearing, Cochlea, Tinnitus, Genetics 40
• Genomic variations and chromosomal abnormalities 34

Most cited

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

   Nucleic acids research · 2024 · 320 citations · Ada Hamosh

2. An update on COVID-19 and pregnancy.

   American journal of obstetrics and gynecology · 2022 · 299 citations · Sonja Rasmussen

3. 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

4. Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome.

   JAMA network open · 2022 · 174 citations · Sonja Rasmussen

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.