Nicole Lesko

Methylation of 12S rRNA Is Necessary for In Vivo Stability of the Small Subunit of the Mammalian Mitochondrial Ribosome

Metodi D. Metodiev, Nicole Lesko, Chan Bae Park et al. · Cell Metabolism · 2009 · 315 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson et al. · Genome Medicine · 2021 · 271 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

Tommy Stödberg, Amy McTague, Arnaud Ruiz et al. · Nature Communications · 2015 · 181 citations · Full text

Life Sciences, Neurology, Neuroscience +17

Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function

Magnus Bjursell, Henk J. Blom, Jordi Asin Cayuela et al. · The American Journal of Human Genetics · 2011 · 135 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Rescue of primary ubiquinone deficiency due to a novel <i>COQ7</i> defect using 2,4–dihydroxybensoic acid

Christoph Freyer, Henrik Stranneheim, K Naess et al. · Journal of Medical Genetics · 2015 · 112 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +17