Richard I. Kelley

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

Gang Wang, Megan L. McCain, Luhan Yang et al. · Nature Medicine · 2014 · 841 citations · Full text

Life Sciences, Bioengineering, Cardiology +16

Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

Daniel E. Michele, Rita Barresi, Motoi Kanagawa et al. · Nature · 2002 · 798 citations

Life Sciences, Biochemistry, Molecular Biology +14

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

Douglas C. Wallace, Xianxian Zheng, Marie T. Lott et al. · Cell · 1988 · 575 citations

Life Sciences, Genetics, Neurology +16

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Michael K. Cooper, Christopher A. Wassif, Patrycja A. Krakowiak et al. · Nature Genetics · 2003 · 398 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Hans R. Waterham, Janet Koster, G. J. Romeijn et al. · The American Journal of Human Genetics · 2001 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16