Richard I. Kelley
Boston Children's Hospital(US)
Publications by Year
Research Areas
Cholesterol and Lipid Metabolism, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Peroxisome Proliferator-Activated Receptors, Cancer, Lipids, and Metabolism
Most-Cited Works
- → Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies(2014)830 cited
- → Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies(2002)793 cited
- → Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease(1988)571 cited
- → The Smith-Lemli-Opitz syndrome(2000)476 cited
- → A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis(2003)397 cited
- → Barth syndrome(2013)363 cited
- → Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis