Sze Chern Lim

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 · 474 citations

Life Sciences, Genetics, Molecular Genetics +15

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

Lisa G. Riley, Sandra T. Cooper, Peter F. Hickey et al. · The American Journal of Human Genetics · 2010 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Sze Chern Lim, Martin Friemel, Justine E. Marum et al. · Human Molecular Genetics · 2013 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R. Smith, David A. Stroud et al. · The American Journal of Human Genetics · 2014 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

Sze Chern Lim, Makiko Tajika, Masaru Shimura et al. · Scientific Reports · 2018 · 69 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17