Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathyAnn Saada, Orly Elpeleg, Avraham Shaag et al.|Nature Genetics|2001Cited by 618
Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar HypoplasiaSimon Edvardson, Orly Elpeleg, Avraham Shaag et al.|The American Journal of Human Genetics|2007Cited by 331
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutationChaya Miller, Orly Elpeleg, Ann Saada et al.|Annals of Neurology|2004Cited by 233
Acute Infantile Liver Failure Due to Mutations in the TRMU GeneAvraham Zeharia, Orly Elpeleg, Ann Saada et al.|The American Journal of Human Genetics|2009Cited by 227
Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in ChildhoodAvraham Zeharia, Orly Elpeleg, Avraham Shaag et al.|The American Journal of Human Genetics|2008Cited by 218