Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang et al. · Cell · 2008 · 2K citations · Full text

Mitochondrial Function, Medicine, Natural Sciences +6

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Sarah E. Calvo, Alison G. Compton, Steven G. Hershman et al. · Science Translational Medicine · 2012 · 471 citations

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

Santhi K. Ganesh, Neil A. Zakai, Frank J.A. van Rooij et al. · Nature Genetics · 2009 · 366 citations · Full text

Genome-wide Association Study, Immunohematology, Allelic Variant +5

Analysis of RAS gene mutations in acute myeloid leukemia by polymerase chain reaction and oligonucleotide probes.

Christine J. Farr, Randall K. Saiki, Frank McCormick et al. · Proceedings of the National Academy of Sciences · 1988 · 364 citations · Full text

Mixed-phenotype Acute Leukemia, Genetics, Pathology +17

Cytochrome <i>c</i> oxidase deficiency in leigh syndrome

Salvatore DiMauro, Serenella Servidei, Massimo Zeviani et al. · Annals of Neurology · 1987 · 363 citations