Unusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthood

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy

(2011) Louise Galmiche et al.   HUMAN MUTATION

Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure

(2011) Vanessa Vedrenne et al.   JOURNAL OF HEPATOLOGY

Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome

(2010) Lisa G. Riley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The 6-min walk distance in healthy subjects: reference standards from seven countries

(2010) C. Casanova et al.   EUROPEAN RESPIRATORY JOURNAL

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols