National Institutes of Health Clinical Center Medical Genetics and Genomics

Topics

• Lysosomal Storage Disorders Research 281
• Muscle Physiology and Disorders 128
• Metabolism and Genetic Disorders 122
• RNA regulation and disease 107
• Lung Cancer Treatments and Mutations 103
• Lung Cancer Research Studies 97
• Epigenetics and DNA Methylation 85
• Genomics and Rare Diseases 80
• RNA modifications and cancer 55
• Genomic variations and chromosomal abnormalities 51
• Cardiomyopathy and Myosin Studies 50
• interferon and immune responses 50

Most cited

1. Patterns of transcription factor programs and immune pathway activation define four major subtypes of SCLC with distinct therapeutic vulnerabilities.

   Cancer cell · 2021 · 843 citations · John Minna

2. Neoadjuvant nivolumab or nivolumab plus ipilimumab in operable non-small cell lung cancer: the phase 2 randomized NEOSTAR trial.

   Nature medicine · 2021 · 558 citations · Jonathan Kurie

3. Genome Sequencing for Diagnosing Rare Diseases.

   The New England journal of medicine · 2024 · 161 citations · Carsten Bonnemann

4. Current clinical applications of AAV-mediated gene therapy.

   Molecular therapy : the journal of the American Society of Gene Therapy · 2025 · 87 citations · Carsten Bonnemann

5. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.

   Nature genetics · 2021 · 361 citations · Ellen Sidransky

6. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.

   JAMA · 2023 · 204 citations · David Beck