University Hospitals Cleveland Medical Center Medical Genetics and Genomics

Topics

• Mitochondrial Function and Pathology 109
• Metabolism and Genetic Disorders 50
• Genomics and Rare Diseases 43
• Genomic variations and chromosomal abnormalities 43
• Genetics and Neurodevelopmental Disorders 20
• Connective tissue disorders research 14
• Genetic Syndromes and Imprinting 12
• RNA modifications and cancer 9
• Genetics, Aging, and Longevity in Model Organisms 8
• Lysosomal Storage Disorders Research 8
• Genetic Mapping and Diversity in Plants and Animals 7
• RNA Research and Splicing 7

Most cited

1. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

   Nature · 2024 · 113 citations · Lindsay Burrage

2. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.

   The Journal of experimental medicine · 2023 · 101 citations · Kosuke Izumi

3. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.

   Neurology · 2023 · 66 citations · Marni Falk

4. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

   The Journal of clinical investigation · 2021 · 150 citations · Lindsay Burrage

5. Long-Term POTS Outcomes Survey: Diagnosis, Therapy, and Clinical Outcomes.

   Journal of the American Heart Association · 2024 · 25 citations · Marni Falk

6. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

   The Journal of clinical investigation · 2024 · 43 citations · Marni Falk

7. Zebrafishology, study design guidelines for rigorous and reproducible data using zebrafish.