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
Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and DystoniaSimon Edvardson, Orly Elpeleg, Itai Berger et al.|The American Journal of Human Genetics|2008Cited by 216
C6ORF66 Is an Assembly Factor of Mitochondrial Complex IAnn Saada, Orly Elpeleg, Simon Edvardson et al.|The American Journal of Human Genetics|2008Cited by 159
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth Bhoj, Håkon Håkonarson, Dong Li et al.|The American Journal of Human Genetics|2016Cited by 74
Mutation‐specific effects on thin filament length in thin filament myopathyJosine M. de Winter, Coen A. C. Ottenheijm, Barbara Joureau et al.|Annals of Neurology|2016Cited by 72