Author

Sheila Clever

Institution: Children's Hospital of Philadelphia

Observed institutions: Broad Institute, Children's Hospital of Philadelphia, Howard Hughes Medical Institute, Massachusetts General Hospital, University of Pennsylvania

OpenAlex ID: A5000338024

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation

2022 · Rebecca D. Ganetzky, Andrew L. Markhard, et al. · New England Journal of Medicine · 43

A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype

2024 · Thomas Christian, Sunita Maharjan, et al. · Journal of Biological Chemistry · 3

Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretation

2026 · Robert Wang, Feng Wang, et al. · Science Advances · 2

Development of a stable isotope flux assay to diagnose primary TCA cycle disorders

2026 · Emma Bethon, Robin Kemperman, et al. · Molecular Genetics and Metabolism

The impact of glucose restriction on mitochondrial energy metabolism in trans-mitochondrial cybrids harboring pathogenic MT-ATP6 missense mutations

2026 · Rebecca Ganetzky, Sheila Clever, et al. · Molecular Genetics and Metabolism

Diverse Biochemical Underpinnings of Recurrent Pathologic Variants in

2022 · Sheila Clever, Alan Cahill, et al. · Molecular Genetics and Metabolism

Works count: 6

Citation count: 48

H-index: 2

I10-index: 1